Non-syndromic retinitis pigmentosa

Safety and Efficacy of Gene Transfer for Leber's Congenital Amaurosis

Maguire, A. M., Simonelli, F., Pierce, E. A., Pugh, E. N., Mingozzi, F., Bennicelli, J., Banfi, S., Marshall, K. A., Testa, F., Surace, E. M., et al. (2008) · New England Journal of Medicine · doi:10.1056/nejmoa0802315 · Cited by 2,145 · see citing works

Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65 -mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial

Russell, S., Bennett, J., Wellman, J. A., Chung, D. C., Yu, Z.-F., Tillman, A., Wittes, J., Pappas, J., Elci, O., McCague, S., et al. (2017) · The Lancet · doi:10.1016/s0140-6736(17)31868-8 · Cited by 1,952 · see citing works

Effect of gene therapy on visual function in Leber’s congenital amaurosis

Bainbridge, J. W. B., Smith, A. J., Barker, S. S., Robbie, S., Henderson, R., Balaggan, K., Viswanathan, A., Holder, G. E., Stockman, A., Tyler, N., et al. (2008) · New England Journal of Medicine · doi:10.1056/nejmoa0802268 · Cited by 1,924 · see citing works

Genes and molecular pathways underpinning ciliopathies

Reiter, J. F., & Leroux, M. R. (2017) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm.2017.60 · Cited by 1,588 · see citing works

Intraflagellar transport

Rosenbaum, J. L., & Witman, G. B. (2002) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm952 · Cited by 1,423 · see citing works

A Core Complex of BBS Proteins Cooperates with the GTPase Rab8 to Promote Ciliary Membrane Biogenesis

Nachury, M. V., Loktev, A. V., Zhang, Q., Westlake, C. J., Peränen, J., Merdes, A., Slusarski, D. C., Scheller, R. H., Bazan, J. F., Sheffield, V. C., et al. (2007) · Cell · doi:10.1016/j.cell.2007.03.053 · Cited by 1,384 · see citing works

Ciliopathies

Hildebrandt, F., Benzing, T., & Katsanis, N. (2011) · New England Journal of Medicine · doi:10.1056/nejmra1010172 · Cited by 1,331 · see citing works

ISCEV Standard for full-field clinical electroretinography (2015 update)

McCulloch, D. L., Marmor, M. F., Brigell, M., Hamilton, R., Holder, G. E., Tzekov, R. T., & Bach, M. (2014) · Documenta Ophthalmologica · doi:10.1007/s10633-014-9473-7 · Cited by 1,316 · see citing works

The renewal of photoreceptor cell outer segments

Young, R. W. (1967) · The Journal of Cell Biology · doi:10.1083/jcb.33.1.61 · Cited by 1,184 · cited 2× · see citing works

The Primary Cilium as the Cell's Antenna: Signaling at a Sensory Organelle

Singla, V., & Reiter, J. F. (2006) · Science · doi:10.1126/science.1124534 · Cited by 1,179 · see citing works

Cyclic GMP Cascade of Vision

Stryer, L. (1986) · Annual Review of Neuroscience · doi:10.1146/annurev.ne.09.030186.000511 · Cited by 1,172 · see citing works

A point mutation of the rhodopsin gene in one form of retinitis pigmentosa

Dryja, T. P., McGee, T. L., Reichel, E., Hahn, L. B., Cowley, G. S., Yandell, D. W., Sandberg, M. A., & Berson, E. L. (1990) · Nature · doi:10.1038/343364a0 · Cited by 1,072 · see citing works

A motility in the eukaryotic flagellum unrelated to flagellar beating.

Kozminski, K. G., Johnson, K. A., Forscher, P., & Rosenbaum, J. L. (1993) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.90.12.5519 · Cited by 1,007 · see citing works

Optical coherence tomography angiography: A comprehensive review of current methods and clinical applications

Kashani, A. H., Chen, C., Gahm, J. K., et al. (2017) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2017.07.002 · Cited by 1,007 · see citing works

Retinitis pigmentosa

Hamel, C. (2006) · Orphanet Journal of Rare Diseases · doi:10.1186/1750-1172-1-40 · Cited by 962 · see citing works

Treatment of Leber Congenital Amaurosis Due to <i>RPE65</i> Mutations by Ocular Subretinal Injection of Adeno-Associated Virus Gene Vector: Short-Term Results of a Phase I Trial

Hauswirth, W. W., Aleman, T. S., Kaushal, S., Cideciyan, A. V., Schwartz, S. B., Wang, L., Conlon, T. J., Boye, S. L., Flotte, T. R., Byrne, B. J., et al. (2008) · Human Gene Therapy · doi:10.1089/hum.2008.107 · Cited by 954 · see citing works

In vivo fluorescence of the ocular fundus exhibits retinal pigment epithelium lipofuscin characteristics.

Delori, F. C., Dorey, C. K., Staurenghi, G., Arend, O., Goger, D. G., & Weiter, J. J. (1995) · PubMed · Cited by 938 · see citing works

Neural remodeling in retinal degeneration

Marc, R. E., Jones, B. W., Watt, C. B., & Strettoi, E. (2003) · Progress in Retinal and Eye Research · doi:10.1016/s1350-9462(03)00039-9 · Cited by 871 · see citing works

The Molecular Basis of Visual Excitation

WALD, G. (1968) · Nature · doi:10.1038/219800a0 · Cited by 824 · see citing works

Subretinal electronic chips allow blind patients to read letters and combine them to words

Zrenner, E., Bartz-Schmidt, K. U., Benav, H., Besch, D., Bruckmann, A., Gabel, V.-P., Gekeler, F., Greppmaier, U., Harscher, A., Kibbel, S., et al. (2011) · Proceedings of the Royal Society B: Biological Sciences · doi:10.1098/rspb.2010.1747 · Cited by 819 · see citing works

Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial

MacLaren, R. E., Groppe, M., Barnard, A. R., Cottriall, C. L., Tolmachova, T., Seymour, L., Clark, K. R., During, M. J., Cremers, F. P. M., Black, G. C. M., et al. (2014) · The Lancet · doi:10.1016/s0140-6736(13)62117-0 · Cited by 796 · see citing works

Photoreceptor degeneration in inherited retinal dystrophy delayed by basic fibroblast growth factor

Faktorovich, E. G., Steinberg, R. H., Yasumura, D., Matthes, M. T., & LaVail, M. M. (1990) · Nature · doi:10.1038/347083a0 · Cited by 710 · see citing works

Highly cooperative feedback control of retinal rod guanylate cyclase by calcium ions

Koch, K., & Stryer, L. (1988) · Nature · doi:10.1038/334064a0 · Cited by 644 · see citing works

Retinitis pigmentosa. The Friedenwald Lecture.

Berson, E. L. (1993) · PubMed · Cited by 634 · see citing works

A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition

García-Gonzalo, F. R., Corbit, K. C., Sirerol-Piquer, M. S., Ramaswami, G., Otto, E. A., Noriega, T. R., Seol, A. D., Robinson, J. F., Bennett, C., Josifova, D. J., et al. (2011) · Nature Genetics · doi:10.1038/ng.891 · Cited by 627 · see citing works

The Primary Cilium as a Complex Signaling Center

Berbari, N. F., O'Connor, A. K., Haycraft, C. J., & Yoder, B. K. (2009) · Current Biology · doi:10.1016/j.cub.2009.05.025 · Cited by 621 · see citing works

Mapping the NPHP-JBTS-MKS Protein Network Reveals Ciliopathy Disease Genes and Pathways

Sang, L., Miller, J. J., Corbit, K. C., Giles, R. H., Brauer, M. J., Otto, E. A., Baye, L. M., Wen, X., Scales, S. J., Kwong, M., et al. (2011) · Cell · doi:10.1016/j.cell.2011.04.019 · Cited by 606 · see citing works

The Conserved Bardet-Biedl Syndrome Proteins Assemble a Coat that Traffics Membrane Proteins to Cilia

Jin, H., White, S. R., Shida, T., Schulz, S., Aguiar, M., Gygi, S. P., Bazán, J. F., & Nachury, M. V. (2010) · Cell · doi:10.1016/j.cell.2010.05.015 · Cited by 594 · see citing works

Discussion

Unknown (1998) · Progress in Retinal and Eye Research · doi:10.1016/s1350-9462(97)00012-8 · Cited by 570 · see citing works

Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR

Cremers, F. P. M. (1998) · Human Molecular Genetics · doi:10.1093/hmg/7.3.355 · Cited by 547 · see citing works

RPE65 is the isomerohydrolase in the retinoid visual cycle

Moiseyev, G., Chen, Y., Takahashi, Y., Wu, B. X., & Ma, J.-X. (2005) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0503460102 · Cited by 536 · see citing works

Oscillatory potentials in the retina: what do they reveal

Wachtmeister, L. (1998) · Progress in Retinal and Eye Research · doi:10.1016/s1350-9462(98)00006-8 · Cited by 531 · see citing works

Assessing retinal function with the multifocal technique

Hood, D. C. (2000) · Progress in Retinal and Eye Research · doi:10.1016/s1350-9462(00)00013-6 · Cited by 484 · see citing works

Morphometric Analysis of Macular Photoreceptors and Ganglion Cells in Retinas With Retinitis Pigmentosa

Stone, J. L. (1992) · Archives of Ophthalmology · doi:10.1001/archopht.1992.01080230134038 · Cited by 471 · see citing works

A Randomized Trial of Vitamin A and Vitamin E Supplementation for Retinitis Pigmentosa

Berson, E. L. (1993) · Archives of Ophthalmology · doi:10.1001/archopht.1993.01090060049022 · Cited by 465 · see citing works

A Randomized Trial of Vitamin A and Vitamin E Supplementation for Retinitis Pigmentosa

Marmor, M. F. (1993) · Archives of Ophthalmology · doi:10.1001/archopht.1993.01090110018004 · Cited by 460 · see citing works

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

Carss, K., Arno, G., Erwood, M., Stephens, J. C., Sanchis‐Juan, A., Hull, S., Mégy, K., Grozeva, D., Dewhurst, E. F., Malka, S., et al. (2016) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2016.12.003 · Cited by 460 · see citing works

Microglial phagocytosis of living photoreceptors contributes to inherited retinal degeneration

Zhao, L., Zabel, M. K., Wang, X., Ma, W., Shah, P., Fariss, R. N., Qian, H., Parkhurst, C. N., Gan, W., & Wong, W. T. (2015) · EMBO Molecular Medicine · doi:10.15252/emmm.201505298 · Cited by 451 · see citing works

Prevalence of Retinitis Pigmentosa in Maine

Bunker, C. H., Berson, E. L., Bromley, W. C., Hayes, R. P., & Roderick, T. H. (1984) · American Journal of Ophthalmology · doi:10.1016/0002-9394(84)90636-6 · Cited by 449 · see citing works

Cone rod dystrophies

Hamel, C. (2007) · Orphanet Journal of Rare Diseases · doi:10.1186/1750-1172-2-7 · Cited by 448 · see citing works

Trafficking to the Ciliary Membrane: How to Get Across the Periciliary Diffusion Barrier?

Nachury, M. V., Seeley, E. S., & Jin, H. (2010) · Annual Review of Cell and Developmental Biology · doi:10.1146/annurev.cellbio.042308.113337 · Cited by 423 · see citing works

Near-Infrared Autofluorescence Imaging of the Fundus: Visualization of Ocular Melanin

Keilhauer, C. N., & Delori, F. ̧. C. (2006) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.06-0122 · Cited by 398 · see citing works

Usher syndrome: Definition and estimate of prevalence from two high-risk populations

Boughman, J. A., Vernon, M., & Shaver, K. A. (1983) · Journal of Chronic Diseases · doi:10.1016/0021-9681(83)90147-9 · Cited by 389 · see citing works

Isomerization and Oxidation of Vitamin A in Cone-Dominant Retinas

Mata, N. L., Radu, R. A., Clemmons, R. S., & Travis, G. H. (2002) · Neuron · doi:10.1016/s0896-6273(02)00912-1 · Cited by 382 · see citing works

Intraflagellar Transport

Scholey, J. M. (2003) · Annual Review of Cell and Developmental Biology · doi:10.1146/annurev.cellbio.19.111401.091318 · Cited by 378 · see citing works

Congenital stationary night blindness: An analysis and update of genotype–phenotype correlations and pathogenic mechanisms

Zeitz, C., Robson, A. G., & Audo, I. S. (2014) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2014.09.001 · Cited by 377 · see citing works

Retinal degeneration and local oxygen metabolism

Yu, D., & Cringle, S. J. (2005) · Experimental Eye Research · doi:10.1016/j.exer.2005.01.018 · Cited by 367 · see citing works

Leber Congenital Amaurosis and Retinitis Pigmentosa with Coats-like Exudative Vasculopathy Are Associated with Mutations in the Crumbs Homologue 1 (CRB1) Gene

den Hollander, A. I., Heckenlively, J. R., van den Born, L. I., de Kok, Y. J. M., van der Velde-Visser, S. D., Kellner, U., Jurklies, B., van Schooneveld, M. J., Blankenagel, A., Rohrschneider, K., et al. (2001) · The American Journal of Human Genetics · doi:10.1086/321263 · Cited by 366 · see citing works

An Actin Network Dispatches Ciliary GPCRs into Extracellular Vesicles to Modulate Signaling

Nager, A. R., Goldstein, J. S., Herranz-Pérez, V., Portran, D., Ye, F., Garcia-Verdugo, J. M., & Nachury, M. V. (2017) · Cell · doi:10.1016/j.cell.2016.11.036 · Cited by 366 · see citing works

A ciliopathy complex at the transition zone protects the cilia as a privileged membrane domain

Chih, B., Liu, P. J., Chinn, Y., Chalouni, C. M., Kömüves, L. G., Hass, P. E., Sandoval, W. N., & Peterson, A. S. (2011) · Nature Cell Biology · doi:10.1038/ncb2410 · Cited by 360 · see citing works

The ultrastructure of the outer segments of rods and cones of the eye as revealed by the electron microscope

Sjöstrand, F. S. (1953) · Journal of Cellular and Comparative Physiology · doi:10.1002/jcp.1030420103 · Cited by 359 · see citing works

Five-year safety and performance results from the argus II retinal prosthesis system clinical trial.

da Cruz, L., Dorn, J. D., Humayun, M. S., Dagnelie, G., Handa, J., Barale, P.-O., Sahel, J.-A., Stanga, P. E., Hafezi, F., Safran, A. B., et al. (2016) · Ophthalmology · doi:10.1016/j.ophtha.2016.06.049 · Cited by 359 · see citing works

The susceptibility of the retina to photochemical damage from visible light

Hunter, J. J., Morgan, J. I. W., Merigan, W. H., Sliney, D. H., Sparrow, J. R., & Williams, D. R. (2011) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2011.11.001 · Cited by 355 · see citing works

Congenital and Acquired Color Vision Defects

Alvin, E., & Enoch, J. M. (1980) · American Journal of Ophthalmology · doi:10.1016/s0002-9394(14)74880-9 · Cited by 352 · see citing works

Massive Light-Driven Translocation of Transducin between the Two Major Compartments of Rod Cells

Sokolov, M., Lyubarsky, A., Strissel, K. J., Savchenko, A. B., Govardovskii, V. I., Pugh, E. N., & Arshavsky, V. Y. (2002) · Neuron · doi:10.1016/s0896-6273(02)00636-0 · Cited by 347 · see citing works

Leber congenital amaurosis/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic interventions

Kumaran, N., Moore, A. T., Weleber, R. G., & Michaelides, M. (2017) · British Journal of Ophthalmology · doi:10.1136/bjophthalmol-2016-309975 · Cited by 334 · see citing works

Congenital and acquired color vision defects

Pokorny, J. (1979) · Grune & Stratton eBooks · Cited by 325 · see citing works

Natural Course of Retinitis Pigmentosa Over a Three-Year Interval

Berson, E. L., Sandberg, M. A., ROSNER, B. A., Birch, D. G., & Hanson, A. H. (1985) · American Journal of Ophthalmology · doi:10.1016/0002-9394(85)90351-4 · Cited by 323 · see citing works

Molecular Basis of Tubulin Transport Within the Cilium by IFT74 and IFT81

Bhogaraju, S., Cajanek, L., Fort, C., Blisnick, T., Weber, K., Taschner, M., Mizuno, N., Lamla, S., Bastin, P., Nigg, E. A., et al. (2013) · Science · doi:10.1126/science.1240985 · Cited by 317 · see citing works

RGS Expression Rate-Limits Recovery of Rod Photoresponses

Krispel, C. M., Chen, D., Melling, N. A., Chen, Y.-J., Martemyanov, K. A., Quillinan, N., Arshavsky, V. Y., Wensel, T. G., Chen, C.-K., & Burns, M. E. (2006) · Neuron · doi:10.1016/j.neuron.2006.07.010 · Cited by 287 · see citing works

Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes.

Abu-Safieh, L., Alrashed, M., Anazi, S., Alkuraya, H., Khan, A. O., Al-Owain, M., Al-Zahrani, J., Al-Abdi, L., Hashem, M., Al-Tarimi, S., et al. (2013) · Genome Research · doi:10.1101/gr.144105.112 · Cited by 276 · see citing works

Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice

Yang, Z., Chen, Y., Lillo, C., CHIEN, J. R., Yu, Z., Michaelides, M., Klein, M., Howes, K. A., Li, Y., Kaminoh, Y., et al. (2008) · Journal of Clinical Investigation · doi:10.1172/jci35891 · Cited by 268 · see citing works

Clinical evidence of sustained chronic inflammatory reaction in retinitis pigmentosa

Yoshida, N., Ikeda, Y., Notomi, S., Ishikawa, K., Murakami, Y., Hisatomi, T., Enaida, H., & Ishibashi, T. (2013) · Ophthalmology · doi:10.1016/j.ophtha.2012.07.006 · Cited by 262 · see citing works

Retinitis pigmentosa

Pagon, R. A. (1988) · Survey of Ophthalmology · doi:10.1016/0039-6257(88)90085-9 · Cited by 262 · see citing works

Sensory Cilia and Integration of Signal Transduction in Human Health and Disease

Christensen, S. T., Pedersen, L. B., Schneider, L. H., & Satir, P. (2006) · Traffic · doi:10.1111/j.1600-0854.2006.00516.x · Cited by 256 · see citing works

Suppression of Microglial Activation Is Neuroprotective in a Mouse Model of Human Retinitis Pigmentosa

Peng, B., Xiao, J., Wang, K., So, K., Tipoe, G. L., & Lin, B. (2014) · Journal of Neuroscience · doi:10.1523/jneurosci.5200-13.2014 · Cited by 255 · see citing works

The biosynthesis of A2E, a fluorophore of aging retina, involves the formation of the precursor, A2-PE, in the photoreceptor outer segment membrane

Liu, J., Itagaki, Y., Ben-Shabat, S., Nakanishi, K., & Sparrow, J. R. (2000) · Journal of Biological Chemistry · doi:10.1074/jbc.m910191199 · Cited by 255 · see citing works

Visual Cycle Impairment in Cellular Retinaldehyde Binding Protein (CRALBP) Knockout Mice Results in Delayed Dark Adaptation

Saari, J. C., Nawrot, M., Kennedy, B. N., Garwin, G. G., Hurley, J. B., Huang, J., Possin, D. E., & Crabb, J. W. (2001) · Neuron · doi:10.1016/s0896-6273(01)00248-3 · Cited by 250 · see citing works

Treatment of retinitis pigmentosa due to MERTK mutations by ocular subretinal injection of adeno-associated virus gene vector: results of a phase I trial

Ghazi, N. G., Abboud, E. B., Nowilaty, S. R., Alkuraya, H., Alhommadi, A., Cai, H., Hou, R., Deng, W.-T., Boye, S. L., Almaghamsi, A., et al. (2016) · Human Genetics · doi:10.1007/s00439-016-1637-y · Cited by 243 · see citing works

Optogenetic therapy for retinitis pigmentosa

Busskamp, V., Picaud, S. A., Sahel, J., & Roska, B. (2011) · Gene Therapy · doi:10.1038/gt.2011.155 · Cited by 237 · see citing works

The extracellular matrix and blood vessel formation: not just a scaffold

Rhodes, J., & Simons, M. (2007) · Journal of Cellular and Molecular Medicine · doi:10.1111/j.1582-4934.2007.00031.x · Cited by 232 · see citing works

Retinitis Pigmentosa

Heckenlively, J. R. (1987) · Cited by 229 · see citing works

Turnover of rod photoreceptor outer segments. II. Membrane addition and loss in relationship to light

Besharse, J. C., Hollyfield, J. G., & Rayborn, M. E. (1977) · The Journal of Cell Biology · doi:10.1083/jcb.75.2.507 · Cited by 224 · see citing works

Autosomal Dominant Sectoral Retinitis Pigmentosa

Heckenlively, J. R. (1991) · Archives of Ophthalmology · doi:10.1001/archopht.1991.01080010086038 · Cited by 221 · see citing works

Long-Term Protection of Retinal Structure but Not Function Using RAAV.CNTF in Animal Models of Retinitis Pigmentosa

Liang, F.-Q., Alemán, T. S., Dejneka, N. S., Dudus, L., Fisher, K. J., Maguire, A. M., Jacobson, S. G., & Bennett, J. (2001) · Molecular Therapy · doi:10.1006/mthe.2001.0473 · Cited by 221 · see citing works

Histopathology of Bone Spicule Pigmentation in Retinitis Pigmentosa

Li, Z.-Y., Possin, D. E., & Milam, A. H. (1995) · Ophthalmology · doi:10.1016/s0161-6420(95)30953-0 · Cited by 221 · see citing works

Emerging therapies for inherited retinal degeneration

Scholl, H. P. N., Strauss, R. W., Singh, M. S., Dalkara, D., Roska, B., Picaud, S., & Sahel, J.-A. (2016) · Science Translational Medicine · doi:10.1126/scitranslmed.aaf2838 · Cited by 219 · see citing works

The Association between Visual Acuity and Central Retinal Thickness in Retinitis Pigmentosa

Sandberg, M. A., Brockhurst, R. J., Gaudio, A. R., et al. (2005) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.04-1383 · Cited by 211 · see citing works

Identification and Characterization of All-trans-retinol Dehydrogenase from Photoreceptor Outer Segments, the Visual Cycle Enzyme That Reduces All-trans-retinal to All-trans-retinol

Rattner, A., Smallwood, P. M., & Nathans, J. (2000) · Journal of Biological Chemistry · doi:10.1074/jbc.275.15.11034 · Cited by 207 · see citing works

A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens

Kajiwara, K., Sandberg, M. A., Berson, E. L., et al. (1993) · Nature Genetics · doi:10.1038/ng0393-208 · Cited by 206 · see citing works

EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa

El-Aziz, M. M. A., Barragán, I., O'Driscoll, C., Goodstadt, L., Prigmore, E., Borrego, S., Mena, M. D., Pieras, J. I., EL-Ashry, M. F., Abu‐Safieh, L., et al. (2008) · Nature Genetics · doi:10.1038/ng.241 · Cited by 206 · see citing works

Structure and function of mammalian cilia

Satir, P., & Christensen, S. T. (2008) · Histochemistry and Cell Biology · doi:10.1007/s00418-008-0416-9 · Cited by 200 · see citing works

Interim results of a multicenter trial with the new electronic subretinal implant Alpha AMS in 15 Patients blind from inherited retinal degenerations.

Stingl, K., Schippert, R., Bartz-Schmidt, K. U., Besch, D., Cottriall, C. L., Edwards, T. L., Gekeler, F., Greppmaier, U., Kiel, K., Koitschev, A., et al. (2017) · Frontiers in Neuroscience · doi:10.3389/fnins.2017.00445 · Cited by 198 · see citing works

Retinitis pigmentosa-associated cystoid macular oedema: pathogenesis and avenues of intervention

Strong, S. A., Liew, G., & Michaelides, M. (2016) · British Journal of Ophthalmology · doi:10.1136/bjophthalmol-2016-309376 · Cited by 197 · see citing works

Fighting Blindness with Microelectronics

Zrenner, E. (2013) · Science Translational Medicine · doi:10.1126/scitranslmed.3007399 · Cited by 192 · see citing works

The Ciliary Transition Zone: Finding the Pieces and Assembling the Gate

Gonçalves, J., & Pelletier, L. (2017) · Molecules and Cells · doi:10.14348/molcells.2017.0054 · Cited by 191 · see citing works

Architecture and function of IFT complex proteins in ciliogenesis

Taschner, M. J., Bhogaraju, S., & Lorentzen, E. (2011) · Differentiation · doi:10.1016/j.diff.2011.11.001 · Cited by 190 · see citing works

Intraflagellar transport delivers tubulin isotypes to sensory cilium middle and distal segments

Hao, L., Thein, M. C., Brust‐Mascher, I., Civelekoglu‐Scholey, G., Lu, Y., Açar, Ş., Prevo, B., Shaham, S., & Scholey, J. M. (2011) · Nature Cell Biology · doi:10.1038/ncb2268 · Cited by 188 · see citing works

Missense Mutations in a Retinal Pigment Epithelium Protein, Bestrophin-1, Cause Retinitis Pigmentosa

Davidson, A. E., Millar, I. D., Urquhart, J. E., Burgess, R., Shweikh, Y., Parry, N. R. A., O’Sullivan, J., Maher, G. J., McKibbin, M., Downes, S. M., et al. (2009) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2009.09.015 · Cited by 185 · see citing works

Molecular Characterization of a Novel Short-chain Dehydrogenase/Reductase That Reduces All-trans-retinal

Haeseleer, F., Huang, J., Lebioda, L., Saari, J. C., & Palczewski, K. (1998) · Journal of Biological Chemistry · doi:10.1074/jbc.273.34.21790 · Cited by 184 · see citing works

Viral-mediated RdCVF and RdCVFL expression protects cone and rod photoreceptors in retinal degeneration

Byrne, L. C., Dalkara, D., Luna, G., Fisher, S. K., Clérin, E., Sahel, J., Léveillard, T., & Flannery, J. G. (2014) · Journal of Clinical Investigation · doi:10.1172/jci65654 · Cited by 182 · see citing works

The Agrin/Perlecan-Related Protein Eyes Shut Is Essential for Epithelial Lumen Formation in the Drosophila Retina

Husain, N., Pellikka, M., Hong, H., Klimentova, T., Choe, K., Clandinin, T. R., & Tepaß, U. (2006) · Developmental Cell · doi:10.1016/j.devcel.2006.08.012 · Cited by 180 · see citing works

Molecular basis for photoreceptor outer segment architecture

Goldberg, A. F. X., Moritz, O. L., & Williams, D. S. (2016) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2016.05.003 · Cited by 180 · see citing works

Retinitis pigmentosa: clinical observations and correlations.

Pruett, R. C. (1983) · PubMed · Cited by 179 · see citing works

Lecithin:Retinol Acyltransferase in Retinal Pigment Epithelial Microsomes

Saari, J. C., & Bredberg, D. L. (1989) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)81839-7 · Cited by 179 · see citing works

Lack of fundus autofluorescence to 488 nanometers from childhood on in patients with early-onset severe retinal dystrophy associated with mutations in RPE65

Lorenz, B., Wabbels, B., Wegscheider, E., Hamel, C. P., Drexler, W., & Preising, M. N. (2004) · Ophthalmology · doi:10.1016/j.ophtha.2004.01.033 · Cited by 172 · see citing works

Clinical Findings and Common Symptoms in Retinitis Pigmentosa

Heckenlively, J. R., Yoser, S. L., Friedman, L. H., & Oversier, J. J. (1988) · American Journal of Ophthalmology · doi:10.1016/0002-9394(88)90242-5 · Cited by 172 · see citing works

Transforming the architecture of compound eyes

Zelhof, A. C., Hardy, R. W., Becker, A., et al. (2006) · Nature · doi:10.1038/nature05128 · Cited by 168 · see citing works

Identification of a 2 Mb Human Ortholog of Drosophila eyes shut/spacemaker that Is Mutated in Patients with Retinitis Pigmentosa

Collin, R. W. J., Littink, K. W., Klevering, B. J., van den Born, L. I., Koenekoop, R. K., Zonneveld, M. N., Blokland, E. A. W., Strom, T. M., Hoyng, C. B., den Hollander, A. I., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.10.014 · Cited by 166 · see citing works

Correlation between visual function and photoreceptor inner/outer segment junction in patients with retinitis pigmentosa

Aizawa, S., Mitamura, Y., Baba, T., Hagiwara, A., Ogata, K., & Yamamoto, S. (2008) · Eye · doi:10.1038/sj.eye.6703076 · Cited by 165 · see citing works

A Differential Cargo-Loading Model of Ciliary Length Regulation by IFT

Wren, K. N., Weghe, J. C. V. D., Tritschler, D., Schauer, A., Patel, D. K., Smith, E. F., Porter, M. E., Kner, P., & Lechtreck, K. F. (2013) · Current Biology · doi:10.1016/j.cub.2013.10.044 · Cited by 164 · see citing works

Disease Course of Patients with X-linked Retinitis Pigmentosa due to RPGR Gene Mutations

Sandberg, M. A., ROSNER, B. A., Weigel-DiFranco, C., Dryja, T. P., & Berson, E. L. (2007) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.06-0971 · Cited by 163 · see citing works

Membranes as the Energy Source in the Endergonic Transformation of Vitamin A to 11- cis -Retinol

Deigner, P. S., Law, W. C., Cañada, F. J., & Rando, R. R. (1989) · Science · doi:10.1126/science.2727688 · Cited by 162 · see citing works

Retinal dystrophy in Bardet–Biedl syndrome and related syndromic ciliopathies

Mockel, A., Perdomo-Trujillo, Y., Stutzmann, F., Letsch, J., Marion, V., & Dollfus, H. (2011) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2011.03.001 · Cited by 162 · see citing works

Ultra-high Resolution Optical Coherence Tomography Assessment of Photoreceptors in Retinitis Pigmentosa and Related Diseases

Witkin, A. J., Ko, T. H., Fujimoto, J. G., Chan, A. Y., Drexler, W., Schuman, J. S., Reichel, E., & Duker, J. S. (2006) · American Journal of Ophthalmology · doi:10.1016/j.ajo.2006.07.024 · Cited by 161 · see citing works

The Transition Zone between Healthy and Diseased Retina in Patients with Retinitis Pigmentosa

Hood, D. C., Lazow, M., Locke, K. G., Greenstein, V. C., & Birch, D. G. (2010) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.10-5799 · Cited by 160 · see citing works

The prevalence of cystoid macular oedema in retinitis pigmentosa patients determined by optical coherence tomography

Hajali, M., Fishman, G. A., & Anderson, R. J. (2008) · British Journal of Ophthalmology · doi:10.1136/bjo.2008.138560 · Cited by 158 · see citing works

Transcorneal Electrical Stimulation for Patients with Retinitis Pigmentosa: A Prospective, Randomized, Sham-Controlled Exploratory Study

Schatz, A., Röck, T., Naycheva, L., Willmann, G., Wilhelm, B., Peters, T. M., Bartz‐Schmidt, K. U., Zrenner, E., Messias, A. M. V., & Gekeler, F. (2011) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.10-6932 · Cited by 157 · see citing works

The Retinitis Pigmentosa 1 Protein Is a Photoreceptor Microtubule-Associated Protein

Liu, Q., Zuo, J., & Pierce, E. A. (2004) · Journal of Neuroscience · doi:10.1523/jneurosci.1335-04.2004 · Cited by 153 · see citing works

Cell replacement and visual restoration by retinal sheet transplants

Seiler, M. J., & Aramant, R. B. (2012) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2012.06.003 · Cited by 152 · see citing works

Anterior capsule contraction and intraocular lens dislocation after implant surgery in eyes with retinitis pigmentosa11The authors have no proprietary interest in any of the materials described in this article.

Hayashi, K., Hayashi, H., Matsuo, K., et al. (1998) · Ophthalmology · doi:10.1016/s0161-6420(98)97028-2 · Cited by 151 · see citing works

Structure and function of the interphotoreceptor matrix surrounding retinal photoreceptor cells

Ishikawa, M., Sawada, Y., & Yoshitomi, T. (2015) · Experimental Eye Research · doi:10.1016/j.exer.2015.02.017 · Cited by 150 · see citing works

Wide-field Imaging of the Retina

Witmer, M. T., & Kiss, S. (2013) · Survey of Ophthalmology · doi:10.1016/j.survophthal.2012.07.003 · Cited by 150 · see citing works

Recessive mutations in the RLBP1 gene encoding cellular retinaldehyde-binding protein in a form of retinitis punctata albescens.

Morimura, H., Berson, E. L., & Dryja, T. P. (1999) · PubMed · Cited by 147 · see citing works

Disease progression in patients with dominant retinitis pigmentosa and rhodopsin mutations.

Berson, E. L., ROSNER, B. A., Weigel-DiFranco, C., Dryja, T. P., & Sandberg, M. A. (2002) · PubMed · Cited by 146 · see citing works

Arrestin Translocation Is Induced at a Critical Threshold of Visual Signaling and Is Superstoichiometric to Bleached Rhodopsin

Strissel, K. J., Sokolov, M., Trieu, L. H., & Arshavsky, V. Y. (2006) · Journal of Neuroscience · doi:10.1523/jneurosci.4289-05.2006 · Cited by 146 · see citing works

Retinal Hemodynamics in Retinitis Pigmentosa

Grunwald, J. E., Maguire, A. M., & DuPont, J. C. (1996) · American Journal of Ophthalmology · doi:10.1016/s0002-9394(14)72109-9 · Cited by 144 · see citing works

RPGR: Its role in photoreceptor physiology, human disease, and future therapies

Megaw, R. D., Soares, D. C., & Wright, A. F. (2015) · Experimental Eye Research · doi:10.1016/j.exer.2015.06.007 · Cited by 141 · see citing works

Patterns of visual field progression in patients with retinitis pigmentosa

Grover, S. (1998) · Ophthalmology · doi:10.1016/s0161-6420(98)96009-2 · Cited by 140 · see citing works

Single molecule imaging reveals a major role for diffusion in the exploration of ciliary space by signaling receptors

Ye, F., Breslow, D. K., Koslover, E. F., Spakowitz, A. J., Nelson, W. J., & Nachury, M. V. (2013) · eLife · doi:10.7554/elife.00654 · Cited by 138 · see citing works

Molecular Characterization of a Third Member of the Guanylyl Cyclase-activating Protein Subfamily

Haeseleer, F., Sokal, I., Li, N., Pettenati, M. J., Rao, N. P., Bronson, D., Wechter, R., Baehr, W., & Palczewski, K. (1999) · Journal of Biological Chemistry · doi:10.1074/jbc.274.10.6526 · Cited by 135 · see citing works

Preferential Release of 11-cis-retinol from Retinal Pigment Epithelial Cells in the Presence of Cellular Retinaldehyde-binding Protein

Stecher, H., Gelb, M. H., Saari, J. C., & Palczewski, K. (1999) · Journal of Biological Chemistry · doi:10.1074/jbc.274.13.8577 · Cited by 134 · see citing works

Increased Expression of Brain-Derived Neurotrophic Factor Preserves Retinal Function and Slows Cell Death from Rhodopsin Mutation or Oxidative Damage

Okoye, G., Zimmer, J., Sung, J., Gehlbach, P. L., Deering, T. G., Nambu, H., Hackett, S. F., Melia, M., Esumi, N., Zack, D. J., et al. (2003) · Journal of Neuroscience · doi:10.1523/jneurosci.23-10-04164.2003 · Cited by 133 · see citing works

Diagnostic exome sequencing in 266 Dutch patients with visual impairment

Haer‐Wigman, L., van Zelst–Stams, W. A. G., Pfundt, R., van den Born, L. I., Klaver, C. C. W., Verheij, J. B., Hoyng, C. B., Breuning, M. H., Boon, C. J. F., Kievit, A. J. A., et al. (2017) · European Journal of Human Genetics · doi:10.1038/ejhg.2017.9 · Cited by 133 · see citing works

Electronic retinal implants and artificial vision: journey and present

Mills, J. O., Jalil, A., & Stanga, P. E. (2017) · Eye · doi:10.1038/eye.2017.65 · Cited by 133 · see citing works

Transcorneal Electrical Stimulation Promotes the Survival of Photoreceptors and Preserves Retinal Function in Royal College of Surgeons Rats

Morimoto, T., Fujikado, T., Choi, J., Kanda, H., Miyoshi, T., Fukuda, Y., & Tano, Y. (2007) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.06-1404 · Cited by 132 · see citing works

Discs of mammalian rod photoreceptors form through the membrane evagination mechanism

Ding, J., Salinas, R. Y., & Arshavsky, V. Y. (2015) · The Journal of Cell Biology · doi:10.1083/jcb.201508093 · Cited by 132 · see citing works

Inner Retinal Abnormalities in X-linked Retinitis Pigmentosa with RPGR Mutations

Alemán, T. S., Cideciyan, A. V., Sumaroka, A., Schwartz, S., Román, A. J., Windsor, E. A. M., Steinberg, J. D., Branham, K. E. H., Othman, M., Swaroop, A., et al. (2007) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.07-0453 · Cited by 131 · see citing works

Recurrent Mutation in the First Zinc Finger of the Orphan Nuclear Receptor NR2E3 Causes Autosomal Dominant Retinitis Pigmentosa

Coppieters, F., Leroy, B. P., Beysen, D., Hellemans, J., Bosscher, K. D., Haegeman, G., Robberecht, K., Wuyts, W. A., Coucke, P. J., & Baere, E. B. W. D. (2007) · The American Journal of Human Genetics · doi:10.1086/518426 · Cited by 129 · see citing works

RP1 Is Required for the Correct Stacking of Outer Segment Discs

Liu, Q., Lyubarsky, A., Skalet, J. H., Pugh, E. N., & Pierce, E. A. (2003) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.03-0410 · Cited by 129 · see citing works

Disulfide-mediated Oligomerization of Peripherin/Rds and Rom-1 in Photoreceptor Disk Membranes

Loewen, C. J. R., & Molday, R. S. (2000) · Journal of Biological Chemistry · doi:10.1074/jbc.275.8.5370 · Cited by 129 · see citing works

Photoreceptor discs form through peripherin-dependent suppression of ciliary ectosome release

Salinas, R. Y., Pearring, J. N., Ding, J., Spencer, W. J., Hao, Y., & Arshavsky, V. Y. (2017) · The Journal of Cell Biology · doi:10.1083/jcb.201608081 · Cited by 129 · see citing works

Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene

Nishiguchi, K. M., Tearle, R. G., Liu, Y. P., Oh, E. C. T., Miyake, N., Benaglio, P., Harper, S., Koskiniemi-Kuendig, H., Venturini, G., Sharon, D., et al. (2013) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1308243110 · Cited by 128 · see citing works

BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition

Deveault, C., Billingsley, G. D., Duncan, J. L., Bin, J. M., Theal, R., Vincent, A., Fieggen, K. J., Gerth‐Kahlert, C., Noordeh, N., Traboulsi, E. I., et al. (2011) · Human Mutation · doi:10.1002/humu.21480 · Cited by 128 · see citing works

Bothnia dystrophy caused by mutations in the cellular retinaldehyde-binding protein gene (RLBP1) on chromosome 15q26.

Burstedt, M. S. I., Sandgren, O., Holmgren, G., & Forsman‐Semb, K. (1999) · PubMed · Cited by 126 · see citing works

Non-syndromic retinal ciliopathies: translating gene discovery into therapy

Estrada‐Cuzcano, A., Roepman, R., Cremers, F. P. M., den Hollander, A. I., & Mans, D. A. (2012) · Human Molecular Genetics · doi:10.1093/hmg/dds298 · Cited by 126 · see citing works

Molecular mechanisms of protein and lipid targeting to ciliary membranes

Emmer, B. T., Maric, D., & Engman, D. M. (2010) · Journal of Cell Science · doi:10.1242/jcs.062968 · Cited by 125 · see citing works

A Splice-Site Mutation in a Retina-Specific Exon of BBS8 Causes Nonsyndromic Retinitis Pigmentosa

Riazuddin, S., Iqbal, M. M., Wang, Y. J., Masuda, T., Chen, Y., Bowne, S. J., Sullivan, L. S., Waseem, N. H., Bhattacharya, S. S., Daiger, S. P., et al. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.04.001 · Cited by 125 · see citing works

BBS1 Mutations in a Wide Spectrum of Phenotypes Ranging From Nonsyndromic Retinitis Pigmentosa to Bardet-Biedl Syndrome

Estrada‐Cuzcano, A., Koenekoop, R. K., Sénéćhal, A., Baere, E. B. W. D., de Ravel, T. J. L., Banfi, S., Kohl, S., Ayuso, C., Sharon, D., Hoyng, C. B., et al. (2012) · Archives of Ophthalmology · doi:10.1001/archophthalmol.2012.2434 · Cited by 125 · see citing works

Distribution of pigment epithelium autofluorescence in retinal disease state recorded in vivo and its change over time

von Rückmann, A., Fitzke, F. W., & Bird, A. C. (1999) · Graefe s Archive for Clinical and Experimental Ophthalmology · doi:10.1007/s004170050186 · Cited by 124 · see citing works

Retinal Vasoproliferative Tumors

Shields, C. L., Kaliki, S., Al-Dahmash, S. A., et al. (2012) · JAMA Ophthalmology · doi:10.1001/2013.jamaophthalmol.524 · Cited by 123 · see citing works

New insights into retinoid metabolism and cycling within the retina

Tang, P. H., Kono, M., Koutalos, Y., Ablonczy, Z., & Crouch, R. K. (2013) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2012.09.002 · Cited by 122 · cited 3× · see citing works

In search of triallelism in Bardet–Biedl syndrome

Abu‐Safieh, L., Al-Anazi, S., AlAbdi, L., Hashem, M., Alkuraya, H., Alamr, M., Sirelkhatim, M. O., Al‐Hassnan, Z. N., Alkuraya, B., Mohamed, J. Y., et al. (2012) · European Journal of Human Genetics · doi:10.1038/ejhg.2011.205 · Cited by 122 · see citing works

Protein Networks and Complexes in Photoreceptor Cilia

Roepman, R., & Wolfrum, U. (2007) · Springer eBooks · doi:10.1007/978-1-4020-5943-8_10 · Cited by 122 · see citing works

Coats'-type retinitis pigmentosa

Khan, J. A., Ide, C. H., & Strickland, M. P. (1988) · Survey of Ophthalmology · doi:10.1016/0039-6257(88)90094-x · Cited by 120 · see citing works

Association Between Abnormal Autofluorescence and Photoreceptor Disorganization in Retinitis Pigmentosa

Murakami, T., Akimoto, M., Ooto, S., Suzuki, T., Ikeda, H. O., Kawagoe, N., Takahashi, M., & Yoshimura, N. (2008) · American Journal of Ophthalmology · doi:10.1016/j.ajo.2007.11.018 · Cited by 120 · see citing works

The fine structure of the extrafoveal receptors of the rhesus monkey

Cohen, A. I. (1961) · Experimental Eye Research · doi:10.1016/s0014-4835(61)80018-3 · Cited by 118 · see citing works

Passage of newly formed protein through the connecting cilium of retinal rods in the frog

Young, R. W. (1968) · Journal of Ultrastructure Research · doi:10.1016/s0022-5320(68)80111-x · Cited by 117 · see citing works

Human CRB1 -Associated Retinal Degeneration: Comparison with the rd8 Crb1 -Mutant Mouse Model

Alemán, T. S., Cideciyan, A. V., Aguirre, G. K., Huang, W., Mullins, C. L., Román, A. J., Sumaroka, A., Olivares, M. B., Tsai, F. F., Schwartz, S., et al. (2011) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.11-7701 · Cited by 116 · see citing works

Macular abnormalities in Italian patients with retinitis pigmentosa

Testa, F., Rossi, S., Colucci, R., et al. (2014) · British Journal of Ophthalmology · doi:10.1136/bjophthalmol-2013-304082 · Cited by 116 · see citing works

OUTER RETINAL TUBULATION IN DEGENERATIVE RETINAL DISORDERS

Goldberg, N. R., Greenberg, J. P., Laud, K., et al. (2013) · Retina · doi:10.1097/iae.0b013e318296b12f · Cited by 116 · see citing works

Low amplification and fast visual pigment phosphorylation as mechanisms characterizing cone photoresponses

Tachibanaki, S., Tsushima, S., & Kawamura, S. (2001) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.241396898 · Cited by 112 · see citing works

STRUCTURAL ASSESSMENT OF HYPERAUTOFLUORESCENT RING IN PATIENTS WITH RETINITIS PIGMENTOSA

de Lima, L. H. S. G., Cella, W., Greenstein, V. C., Wang, N., Busuioc, M., Smith, R. T., Yannuzzi, L. A., & Tsang, S. H. (2009) · Retina · doi:10.1097/iae.0b013e3181ac2418 · Cited by 112 · see citing works

Long-term follow-up of patients with retinitis pigmentosa receiving intraocular ciliary neurotrophic factor implants

Birch, D. G., Bennett, L. D., Duncan, J. L., Weleber, R. G., & Pennesi, M. E. (2016) · American Journal of Ophthalmology · doi:10.1016/j.ajo.2016.07.013 · Cited by 112 · see citing works

Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1

Henderson, R., Mackay, D. S., Li, Z., Moradi, P., Sergouniotis, P. I., Russell‐Eggitt, I., Thompson, D., Robson, A. G., Holder, G. E., Webster, A. R., et al. (2010) · British Journal of Ophthalmology · doi:10.1136/bjo.2010.186882 · Cited by 111 · see citing works

Intraflagellar transport complex structure and cargo interactions

Bhogaraju, S., Engel, B. D., & Lorentzen, E. (2013) · Cilia · doi:10.1186/2046-2530-2-10 · Cited by 111 · see citing works

Relationship Between Foveal Cone Structure and Clinical Measures of Visual Function in Patients With Inherited Retinal Degenerations

Ratnam, K., Carroll, J., Porco, T. C., Duncan, J. L., & Roorda, A. (2013) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.13-12557 · Cited by 111 · see citing works

Macular abnormalities in patients with retinitis pigmentosa: prevalence on OCT examination and outcomes of vitreoretinal surgery

Hagiwara, A., Yamamoto, S., Ogata, K., Sugawara, T., 平松, 彩., Shibata, M., & Mitamura, Y. (2010) · Acta Ophthalmologica · doi:10.1111/j.1755-3768.2010.01866.x · Cited by 110 · see citing works

A Homozygous Missense Mutation in the<i>IRBP</i>Gene (<i>RBP3</i>) Associated with Autosomal Recessive Retinitis Pigmentosa

den Hollander, A. I., McGee, T. L., Ziviello, C., Banfi, S., Dryja, T. P., Gonzalez-Fernandez, F., Ghosh, D., & Berson, E. L. (2009) · Investigative Opthalmology &amp; Visual Science · doi:10.1167/iovs.08-2497 · Cited by 109 · see citing works

AAV Mediated GDNF Secretion From Retinal Glia Slows Down Retinal Degeneration in a Rat Model of Retinitis Pigmentosa

Dalkara, D., Kolstad, K. D., Guerin, K. I., Hoffmann, N., Visel, M., Klimczak, R. R., Schaffer, D. V., & Flannery, J. G. (2011) · Molecular Therapy · doi:10.1038/mt.2011.62 · Cited by 109 · see citing works

The Frequency of Posterior Subcapsular Cataract in the Hereditary Retinal Degenerations

Heckenlively, J. R. (1982) · American Journal of Ophthalmology · doi:10.1016/0002-9394(82)90469-x · Cited by 108 · see citing works

Hyaluronan and the functional organization of the interphotoreceptor matrix.

Hollyfield, J. G. (1999) · PubMed · Cited by 107 · see citing works

Identification of DES1 as a vitamin A isomerase in Müller glial cells of the retina

Kaylor, J. J., Yuan, Q., Cook, J., Sarfare, S., Makshanoff, J., Miu, A., Kim, A., Kim, P., Habib, S., Roybal, C. N., et al. (2013) · Nature Chemical Biology · doi:10.1038/nchembio.1114 · Cited by 107 · see citing works

Assessing Photoreceptor Structure in Retinitis Pigmentosa and Usher Syndrome

Sun, L. W., Johnson, R. D., Langlo, C. S., Cooper, R. F., Razeen, M. M., Russillo, M. C., Dubra, A., Connor, T. B., Han, D. P., Pennesi, M. E., et al. (2016) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.15-18246 · Cited by 107 · see citing works

Disease Course in Patients with Autosomal Recessive Retinitis Pigmentosa due to theUSH2AGene

Sandberg, M. A., ROSNER, B. A., Weigel-DiFranco, C., et al. (2008) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.08-2009 · Cited by 105 · see citing works

Proteoglycans in retina

Inatani, M., & Tanihara, H. (2002) · Progress in Retinal and Eye Research · doi:10.1016/s1350-9462(02)00009-5 · Cited by 105 · see citing works

Mutations in IMPG2, Encoding Interphotoreceptor Matrix Proteoglycan 2, Cause Autosomal-Recessive Retinitis Pigmentosa

Bandah‐Rozenfeld, D., Collin, R. W. J., Banin, E., van den Born, L. I., Coene, K. L. M., Siemiatkowska, A. M., Zelinger, L., Khan, M. I., Lefeber, D. J., Erdinest, I., et al. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.07.004 · Cited by 104 · see citing works

Rates of Change Differ among Measures of Visual Function in Patients with Retinitis Pigmentosa

Holopigian, K., Greenstein, V. C., Seiple, W., et al. (1996) · Ophthalmology · doi:10.1016/s0161-6420(96)30679-9 · Cited by 103 · see citing works

Together, the IFT81 and IFT74 N-termini form the main module for intraflagellar transport of tubulin

Kubo, T., Brown, J., Bellve, K. D., Craige, B., Weghe, J. C. V. D., Fogarty, K. E., Lechtreck, K. F., & Witman, G. B. (2016) · Journal of Cell Science · doi:10.1242/jcs.187120 · Cited by 103 · see citing works

Bardet–Biedl syndrome: Genetics, molecular pathophysiology, and disease management

Priya, S., Nampoothiri, S., Sen, P., & Sripriya, S. (2016) · Indian Journal of Ophthalmology · doi:10.4103/0301-4738.194328 · Cited by 103 · see citing works

Homozygosity Mapping Reveals Null Mutations in FAM161A as a Cause of Autosomal-Recessive Retinitis Pigmentosa

Bandah‐Rozenfeld, D., Mizrahi‐Meissonnier, L., Farhy, C., Obolensky, A., Chowers, I., Pe’er, J., Merin, S. C., Ben‐Yosef, T., Ashery‐Padan, R., Banin, E., et al. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.07.022 · Cited by 101 · see citing works

Newfoundland Rod-Cone Dystrophy, an Early-Onset Retinal Dystrophy, Is Caused by Splice-Junction Mutations in RLBP1

Eichers, E. R., Green, J. S., Stockton, D. W., Jackman, C. S., Whelan, J., McNamara, J. A., Johnson, G. J., Lupski, J. R., & Katsanis, N. (2002) · The American Journal of Human Genetics · doi:10.1086/339688 · Cited by 101 · see citing works

Beiträge zur pathologischen Anatomie des Auges

Donders, F. C. (1855) · Graefe s Archive for Clinical and Experimental Ophthalmology · doi:10.1007/bf02720791 · Cited by 100 · see citing works

Chapter 9 Structure, composition and function of the retinal interphotoreceptor matrix

Hageman, G. S., & Johnson, L. V. (1991) · Progress in Retinal Research · doi:10.1016/0278-4327(91)90014-s · Cited by 99 · see citing works

Outcome of cataract surgery in patients with retinitis pigmentosa

Jackson, H. (2001) · British Journal of Ophthalmology · doi:10.1136/bjo.85.8.936 · Cited by 99 · see citing works

Transcorneal Electrical Stimulation for Patients With Retinitis Pigmentosa: A Prospective, Randomized, Sham-Controlled Follow-up Study Over 1 Year

Schatz, A., Pach, J., Gosheva, M., Naycheva, L., Willmann, G., Wilhelm, B., Peters, T. M., Bartz‐Schmidt, K. U., Zrenner, E., Messias, A. M. V., et al. (2017) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.16-19906 · Cited by 99 · see citing works

A New Codon 15 Rhodopsin Gene Mutation in Autosomal Dominant Retinitis Pigmentosa Is Associated With Sectorial Disease

Sullivan, L. J. (1993) · Archives of Ophthalmology · doi:10.1001/archopht.1993.01090110078029 · Cited by 98 · see citing works

Potential and Limitation of HLA-Based Banking of Human Pluripotent Stem Cells for Cell Therapy

de Rham, C., & Villard, J. (2014) · Journal of Immunology Research · doi:10.1155/2014/518135 · Cited by 98 · see citing works

Development of Refractive Errors—What Can We Learn From Inherited Retinal Dystrophies?

Hendriks, M., Verhoeven, V. J. M., Buitendijk, G. H. S., Polling, J. R., Meester‐Smoor, M. A., Albert Hofman, D., van Huet, R. A. C., Klevering, B. J., Bax, N. M., Lambertus, S., et al. (2017) · American Journal of Ophthalmology · doi:10.1016/j.ajo.2017.07.008 · Cited by 97 · see citing works

SERIAL IMAGING AND STRUCTURE-FUNCTION CORRELATES OF HIGH-DENSITY RINGS OF FUNDUS AUTOFLUORESCENCE IN RETINITIS PIGMENTOSA

Robson, A. G., Tufail, A., Fitzke, F. W., Bird, A. C., Moore, A. T., Holder, G. E., & Webster, A. R. (2011) · Retina · doi:10.1097/iae.0b013e318206d155 · Cited by 96 · see citing works

Some cytological and initial biochemical observations on photoreceptors in retinas of rds mice.

Cohen, A. I. (1983) · PubMed · Cited by 95 · see citing works

Optical Coherence Tomographic Analysis of Retina in Retinitis Pigmentosa Patients

Liu, G., Liu, X., Li, H., Du, Q., & Wang, F. (2016) · Ophthalmic Research · doi:10.1159/000445063 · Cited by 95 · see citing works

Genotypic and Phenotypic Characteristics of CRB1 -Associated Retinal Dystrophies

Talib, M., van Schooneveld, M. J., van Genderen, M. M., Wijnholds, J., Florijn, R. J., ten Brink, J. B., Schalij-Delfos, N. E., Dagnelie, G., Cremers, F. P. M., Wolterbeek, R., et al. (2017) · Ophthalmology · doi:10.1016/j.ophtha.2017.01.047 · Cited by 95 · see citing works

Highly effective phosphorylation by G protein-coupled receptor kinase 7 of light-activated visual pigment in cones

Tachibanaki, S., Arinobu, D., Shimauchi‐Matsukawa, Y., Tsushima, S., & Kawamura, S. (2005) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0501875102 · Cited by 94 · see citing works

Identification of Novel Mutations in Patients with Leber Congenital Amaurosis and Juvenile RP by Genome-wide Homozygosity Mapping with SNP Microarrays

den Hollander, A. I., López, I., Yzer, S., Zonneveld, M. N., Janssen, I. M., Strom, T. M., Hehir‐Kwa, J. Y., Veltman, J. A., Arends, M. L., Meitinger, T., et al. (2007) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.07-0610 · Cited by 94 · see citing works

SPACRCAN, a Novel Human Interphotoreceptor Matrix Hyaluronan-binding Proteoglycan Synthesized by Photoreceptors and Pinealocytes

Acharya, S., Foletta, V. C., Lee, J. W., et al. (2000) · Journal of Biological Chemistry · doi:10.1074/jbc.275.10.6945 · Cited by 93 · see citing works

Wide-Field Fundus Autofluorescence Imaging of Retinitis Pigmentosa

Oishi, A., Ogino, K., Makiyama, Y., et al. (2013) · Ophthalmology · doi:10.1016/j.ophtha.2013.01.050 · Cited by 92 · see citing works

Adaptive optics imaging of inherited retinal diseases

Georgiou, M., Kalitzeos, A. A., Patterson, E. J., Dubra, A., Carroll, J., & Michaelides, M. (2017) · British Journal of Ophthalmology · doi:10.1136/bjophthalmol-2017-311328 · Cited by 92 · see citing works

Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa

Booij, J. C., Florijn, R. J., ten Brink, J. B., Loves, W., Meire, F., van Schooneveld, M. J., de Jong, P. T., & Bergen, A. A. B. (2005) · Journal of Medical Genetics · doi:10.1136/jmg.2005.035121 · Cited by 91 · see citing works

Retinal Oxygenation and Oxygen Metabolism in Abyssinian Cats with a Hereditary Retinal Degeneration

Padnick‐Silver, L., Kang‐Mieler, J. J., Giuliano, E. A., Narfstro¨m, K., & Linsenmeier, R. A. (2006) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.05-1284 · Cited by 90 · see citing works

Comparison of Near-Infrared and Short-Wavelength Autofluorescence in Retinitis Pigmentosa

Duncker, T., Tabacaru, M., Lee, W., Tsang, S. H., Sparrow, J. R., & Greenstein, V. C. (2013) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.12-11176 · Cited by 90 · see citing works

Essential and Synergistic Roles of RP1 and RP1L1 in Rod Photoreceptor Axoneme and Retinitis Pigmentosa

Yamashita, T., Liu, J., Gao, J., LeNoue, S. R., Wang, C., Kaminoh, J., Bowne, S. J., Sullivan, L. S., Daiger, S. P., Zhang, K., et al. (2009) · Journal of Neuroscience · doi:10.1523/jneurosci.5854-08.2009 · Cited by 88 · see citing works

Mutations in the EYS Gene Account for Approximately 5% of Autosomal Recessive Retinitis Pigmentosa and Cause a Fairly Homogeneous Phenotype

Littink, K. W., van den Born, L. I., Koenekoop, R. K., et al. (2010) · Ophthalmology · doi:10.1016/j.ophtha.2010.01.040 · Cited by 87 · see citing works

Structural basis for membrane targeting of the BBSome by ARL6

Mourão, A., Nager, A. R., Nachury, M. V., & Lorentzen, E. (2014) · Nature Structural & Molecular Biology · doi:10.1038/nsmb.2920 · Cited by 86 · see citing works

Structure and functions of arrestins

Palczewski, K. (1994) · Protein Science · doi:10.1002/pro.5560030901 · Cited by 84 · see citing works

The Interphotoreceptor Matrix Mediates Primate Retinal Adhesion

Hageman, G. S. (1995) · Archives of Ophthalmology · doi:10.1001/archopht.1995.01100050123041 · Cited by 83 · see citing works

Effect of exogenous administration of nerve growth factor in the retina of rats with inherited retinitis pigmentosa

Lenzi, L., Coassin, M., Lambìase, A., Bonini, S., Amendola, T., & Aloe, L. (2005) · Vision Research · doi:10.1016/j.visres.2004.12.020 · Cited by 83 · see citing works

The intraflagellar transport machinery in ciliary signaling

Mourão, A., Christensen, S. T., & Lorentzen, E. (2016) · Current Opinion in Structural Biology · doi:10.1016/j.sbi.2016.06.009 · Cited by 83 · see citing works

Correlation of fundus autofluorescence with photoreceptor morphology and functional changes in eyes with retinitis pigmentosa

Wakabayashi, T., Sawa, M., Gomi, F., & Tsujikawa, M. (2010) · Acta Ophthalmologica · doi:10.1111/j.1755-3768.2010.01926.x · Cited by 81 · see citing works

Cataract Extraction Outcomes and the Prevalence of Zonular Insufficiency in Retinitis Pigmentosa

Dikopf, M. S., Chow, C. C., Mieler, W. F., et al. (2013) · American Journal of Ophthalmology · doi:10.1016/j.ajo.2013.02.002 · Cited by 81 · see citing works

Progress in treating inherited retinal diseases: Early subretinal gene therapy clinical trials and candidates for future initiatives

Garafalo, A. V., Cideciyan, A. V., Héon, E., Sheplock, R., Pearson, A., WeiYang Yu, C., Sumaroka, A., Aguirre, G. D., & Jacobson, S. G. (2020) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2019.100827 · Cited by 173 · see citing works

The Role of Vitamin A in Retinal Diseases

Sajovic, J., Meglič, A., Glavač, D., Markelj, Š., Hawlina, M., & Fakin, A. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms23031014 · Cited by 109 · see citing works

Lipid nanoparticles for the posterior eye segment

Bonilla, L., Espina, M., Severino, P., Cano, A., Ettcheto, M., Camins, A., García, M. L., Souto, E. B., & Sánchez-López, E. (2021) · Pharmaceutics · doi:10.3390/pharmaceutics14010090 · Cited by 76 · see citing works

Phase 1/2 AAV5-hRKp.RPGR (botaretigene sparoparvovec) gene therapy: safety and efficacy in RPGR-associated X-linked retinitis pigmentosa

MICHAELIDES, M., BESIRLI, C. G., YANG, Y., DE GUIMARAES, T. A. C., WONG, S. C., HUCKFELDT, R. M., COMANDER, J. I., SAHEL, J.-A., SHAH, S. M., TEE, J. J. L., et al. (2024) · American Journal of Ophthalmology · doi:10.1016/j.ajo.2024.05.034 · Cited by 55 · see citing works

Therapy with voretigene neparvovec. How to measure success?

Stingl, K., Kempf, M., Jung, R., Kortüm, F., Righetti, G., Reith, M., Dimopoulos, S., Ott, S., Kohl, S., & Stingl, K. (2023) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2022.101115 · Cited by 48 · see citing works

Inherited Retinal Diseases Due to RPE65 Variants: From Genetic Diagnostic Management to Therapy

Aoun, M., Passerini, I., Chiurazzi, P., Karali, M., De Rienzo, I., Sartor, G., Murro, V., Filimonova, N., Seri, M., & Banfi, S. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms22137207 · Cited by 47 · see citing works

Non-viral delivery of CRISPR/Cas cargo to the retina using nanoparticles: current possibilities, challenges, and limitations

Salman, A., Kantor, A., McClements, M. E., Marfany, G., Trigueros, S., & MacLaren, R. E. (2022) · Pharmaceutics · doi:10.3390/pharmaceutics14091842 · Cited by 37 · see citing works

The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for vision

Chrystal, P. W., Lambacher, N. J., Doucette, L. P., Bellingham, J., Schiff, E. R., Noel, N. C. L., Li, C., Tsiropoulou, S., Casey, G. A., Zhai, Y., et al. (2022) · Nature Communications · doi:10.1038/s41467-022-33820-w · Cited by 31 · see citing works

Safety of same-eye subretinal sequential readministration of AAV2-hRPE65v2 in non-human primates

Weed, L., Ammar, M. J., Zhou, S., Wei, Z., Serrano, L. W., Sun, J., Lee, V., Maguire, A. M., Bennett, J., & Aleman, T. S. (2019) · Molecular Therapy - Methods &amp; Clinical Development · doi:10.1016/j.omtm.2019.08.011 · Cited by 27 · see citing works

Intravitreal Administration of Retinal Organoids-Derived Exosomes Alleviates Photoreceptor Degeneration in Royal College of Surgeons Rats by Targeting the Mitogen-Activated Protein Kinase Pathway

Han, J., Chang, H., Yang, J., Choi, H., Park, H., Jun, H., Choi, J., Paik, S.-S., Chung, K., Shin, H., et al. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms241512068 · Cited by 20 · see citing works

Importance of autoimmune responses in progression of retinal degeneration initiated by gene mutations

Adamus, G. (2021) · Frontiers in Medicine · doi:10.3389/fmed.2021.672444 · Cited by 16 · see citing works

Clinical and Genetic Spectrum of Stargardt Disease in Argentinean Patients

Mena, M. D., Moresco, A., Vidal, S., Aguilar-Cortes, D. C., Obregón, M. G., Fandiño, A. C., Sendoya, J. M., Llera, A. S., & Podhajcer, O. L. (2021) · Frontiers in Genetics · doi:10.3389/fgene.2021.646058 · Cited by 15 · see citing works

Stargardt Disease Caused by a Rare Combination of Double Homozygous Mutations

Serapinas, D., Obrikytė, V., & Sakalauskas, R. (2013) · Medicina · doi:10.3390/medicina49080060 · Cited by 5 · see citing works

Genotype–Phenotype Association in ABCA4-Associated Retinopathy

Pfau, M., Zein, W. M., Huryn, L. A., Cukras, C. A., Jeffrey, B. G., Hufnagel, R. B., & Brooks, B. P. (2023) · Advances in experimental medicine and biology · doi:10.1007/978-3-031-27681-1_42 · Cited by 7 · see citing works

C20-D3-vitamin A Slows Lipofuscin Accumulation and Electrophysiological Retinal Degeneration in a Mouse Model of Stargardt Disease

Ma, L., Kaufman, Y., Zhang, J., & Washington, I. (2011) · Journal of Biological Chemistry · doi:10.1074/jbc.m110.178657 · Cited by 83 · see citing works

Fundus autofluorescence, spectral‐domain optical coherence tomography, and histology correlations in a Stargardt disease mouse model

Fang, Y., Tschulakow, A., Taubitz, T., Illing, B., Biesemeier, A., Julien, S., Radu, R. A., Jiang, Z., & Schraermeyer, U. (2020) · The FASEB Journal · doi:10.1096/fj.201901784rr · Cited by 22 · see citing works