Retinitis pigmentosa
Open accessAbstract
Retinitis pigmentosa (RP) is an inherited retinal dystrophy caused by the loss of photoreceptors and characterized by retinal pigment deposits visible on fundus examination. Prevalence of non syndromic RP is approximately 1/4,000. The most common form of RP is a rod-cone dystrophy, in which the first symptom is night blindness, followed by the progressive loss in the peripheral visual field in daylight, and eventually leading to blindness after several decades. Some extreme cases may have a rapid evolution over two decades or a slow progression that never leads to blindness. In some cases, the clinical presentation is a cone-rod dystrophy, in which the decrease in visual acuity predominates over the visual field loss. RP is usually non syndromic but there are also many syndromic forms, the most frequent being Usher syndrome. To date, 45 causative genes/loci have been identified in non syndromic RP (for the autosomal dominant, autosomal recessive, X-linked, and digenic forms). Clinical diagnosis is based on the presence of night blindness and peripheral visual field defects, lesions in the fundus, hypovolted electroretinogram traces, and progressive worsening of these signs. Molecular diagnosis can be made for some genes, but is not usually performed due to the tremendous genetic heterogeneity of the disease. Genetic counseling is always advised. Currently, there is no therapy that stops the evolution of the disease or restores the vision, so the visual prognosis is poor. The therapeutic approach is restricted to slowing down the degenerative process by sunlight protection and vitaminotherapy, treating the complications (cataract and macular edema), and helping patients to cope with the social and psychological impact of blindness. However, new therapeutic strategies are emerging from intensive research (gene therapy, neuroprotection, retinal prosthesis).
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RP is a set of rare inherited retinal rod-cone dystrophies causing loss of night vision and constriction of the visual field, later followed by cone dysfunction and eventually total blindness.
“Unlike AMD, RP is a set of rare inherited retinal rod-cone dystrophies, causing loss of night vision and the constriction of the visual field (tunnel vision), later followed by cone dysfunction and eventually total blindness (figure 4(c)) [5,22].”
From Advances in visual prostheses: engineering and biological challenges (2022) · cites this paper as [22]
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Cites
Gene therapy restores vision in a canine model of childhood blindness
Acland, G. M., Aguirre, G. D., Ray, J., Zhang, Q., Aleman, T. S., Cideciyan, A. V., Pearce-Kelling, S. E., Anand, V., Zeng, Y., Maguire, A. M., et al. (2001) · Nature Genetics · doi:10.1038/ng0501-92 · Cited by 1,202 · 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
New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey
Beales, P. L., Elcioglu, N. H., Woolf, A. S., Parker, D., & Flinter, F. A. (1999) · Journal of Medical Genetics · doi:10.1136/jmg.36.6.437 · Cited by 968 · see citing works
Digenic Retinitis Pigmentosa Due to Mutations at the Unlinked Peripherin/ RDS and ROM1 Loci
Kajiwara, K., Berson, E. L., & Dryja, T. P. (1994) · Science · doi:10.1126/science.8202715 · Cited by 774 · see citing works
Gal, A., Li, Y., Thompson, D. A., Weir, J., Orth, U., Jacobson, S. G., Apfelstedt-Sylla, E., & Vollrath, D. (2000) · Nature Genetics · doi:10.1038/81555 · Cited by 679 · see citing works
Triallelic Inheritance in Bardet-Biedl Syndrome, a Mendelian Recessive Disorder
Katsanis, N., Ansley, S. J., Badano, J. L., Eichers, E. R., Lewis, R. A., Hoskins, B. E., Scambler, P. J., Davidson, W. S., Beales, P. L., & Lupski, J. R. (2001) · Science · doi:10.1126/science.1063525 · Cited by 655 · see citing works
Trottier, Y., Lutz, Y., Stévanin, G., Imbert, G., Devys, D., Cancel‐Tassin, G., Saudou, F., Weber, C., David, G., Tora, L., et al. (1995) · Nature · doi:10.1038/378403a0 · Cited by 654 · see citing works
A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis
Town, M. M., Jean, G., Cherqui, S., Attard, M., Forestier, L., Whitmore, S. A., Callen, D. F., Gribouval, O., Broyer, M., Bates, G. P., et al. (1998) · Nature Genetics · doi:10.1038/ng0498-319 · Cited by 622 · see citing works
Acland, G. M., Aguirre, G. K., Bennett, J., Alemán, T. S., Cideciyan, A. V., Bennicelli, J. L., Dejneka, N. S., Pearce-Kelling, S. E., Maguire, A. M., Palczewski, K., et al. (2005) · Molecular Therapy · doi:10.1016/j.ymthe.2005.08.008 · Cited by 478 · 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
Identification and characterization of rod-derived cone viability factor
Léveillard, T., Mohand‐Saïd, S., Lorentz, O., Hicks, D., Fintz, A.-C., Clérin, E., Simonutti, M., Forster, V., Cavusoglu, N., Chalmel, F., et al. (2004) · Nature Genetics · doi:10.1038/ng1386 · Cited by 438 · see citing works
Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome
Ferland, R. J., Eyaid, W., Collura, R. V., Tully, L. D., Hill, R. S., Al-Nouri, D., Al-Rumayyan, A., Topcu, M., Gascon, G., Bodell, A., et al. (2004) · Nature Genetics · doi:10.1038/ng1419 · Cited by 408 · 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
Kolehmainen, J., Black, G. C. M., Saarinen, A., Chandler, K., Clayton‐Smith, J., Träskelin, A., Perveen, R., Kivitie‐Kallio, S., Norio, R., Warburg, M., et al. (2003) · The American Journal of Human Genetics · doi:10.1086/375454 · Cited by 380 · see citing works
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
Li, L., & Turner, J. E. (1988) · Experimental Eye Research · doi:10.1016/0014-4835(88)90073-5 · Cited by 330 · see citing works
Treatment of Chronic Macular Edema With Acetazolamide
Cox, S. N., Hay, E., & Bird, A. C. (1988) · Archives of Ophthalmology · doi:10.1001/archopht.1988.01060140350030 · Cited by 321 · see citing works
Population genetic studies of retinitis pigmentosa.
Boughman, J. A., Conneally, P. M., & Nance, W. E. (1980) · PubMed · Cited by 318 · see citing works
A one-hit model of cell death in inherited neuronal degenerations
Clarke, G. D., Collins, R. A., Leavitt, B. R., Andrews, D. F., Hayden, M. R., Lumsden, C. J., & McInnes, R. R. (2000) · Nature · doi:10.1038/35018098 · Cited by 303 · see citing works
Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns
Rivolta, C. (2002) · Human Molecular Genetics · doi:10.1093/hmg/11.10.1219 · Cited by 296 · see citing works
Mutations in the AHI1 Gene, Encoding Jouberin, Cause Joubert Syndrome with Cortical Polymicrogyria
Dixon‐Salazar, T., Silhavy, J. L., Marsh, S., Louie, C. M., Scott, L. C., Gururaj, A., Al‐Gazali, L., Al-Tawari, A. A., Kayserili, H., Sztriha, L., et al. (2004) · The American Journal of Human Genetics · doi:10.1086/425985 · Cited by 293 · see citing works
Bietti Crystalline Corneoretinal Dystrophy Is Caused by Mutations in the Novel Gene CYP4V2
Li, A., Jiao, X., Munier, F. L., Schorderet, D. F., Yao, W., Iwata, F., Hayakawa, M., Kanai, A., Chen, M. S., Lewis, R. A., et al. (2004) · The American Journal of Human Genetics · doi:10.1086/383228 · Cited by 287 · see citing works
Van Hooser, J. P., Aleman, T. S., He, Y.-G., Cideciyan, A. V., Kuksa, V., Pittler, S. J., Stone, E. M., Jacobson, S. G., & Palczewski, K. (2000) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.150236297 · Cited by 252 · see citing works
Retinitis pigmentosa: rod photoreceptor rescue by a calcium-channel blocker in the rd mouse
Frasson, M., Sahel, J., Fabre, M., Simonutti, M., Dreyfus, H., & Picaud, S. A. (1999) · Nature Medicine · doi:10.1038/13508 · Cited by 230 · see citing works
Bowne, S. J. (2002) · Human Molecular Genetics · doi:10.1093/hmg/11.5.559 · Cited by 227 · see citing works
Radu, R. A., Han, Y., Bui, T. V., Nusinowitz, S., Bok, D., Lichter, J. B., Widder, K., Travis, G. H., & Mata, N. L. (2005) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.05-0820 · Cited by 225 · see citing works
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
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
Mohand‐Saïd, S., Deudon-Combe, A., Hicks, D., Simonutti, M., Forster, V., Fintz, A.-C., Léveillard, T., Dreyfus, H., & Sahel, J. (1998) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.95.14.8357 · Cited by 206 · see citing works
Weber, M., Rabinowitz, J., Provost, N., Conrath, H., Folliot, S., Briot, D., Chérel, Y., Chenuaud, P., Samulski, J., Moullier, P., et al. (2003) · Molecular Therapy · doi:10.1016/s1525-0016(03)00098-4 · Cited by 203 · see citing works
Sanftner, L. H. M., Abel, H., Hauswirth, W. W., & Flannery, J. G. (2001) · Molecular Therapy · doi:10.1006/mthe.2001.0498 · Cited by 187 · see citing works
Berson, E. L., ROSNER, B. A., Sandberg, M. A., Weigel-DiFranco, C., Moser, A., Brockhurst, R. J., Hayes, K. C., Johnson, C. A., Anderson, E. J., Gaudio, A. R., et al. (2004) · PubMed · doi:10.1001/archopht.122.9.1306 · Cited by 182 · see citing works
On the heredity of retinitis pigmentosa.
Jay, M. (1982) · British Journal of Ophthalmology · doi:10.1136/bjo.66.7.405 · Cited by 180 · see citing works
Min, S.-H., Molday, L. L., Seeliger, M. W., Dinculescu, A., Timmers, A. M., Janßen, A., Tonagel, F., Tanimoto, N., Weber, B. H. F., Molday, R. S., et al. (2005) · Molecular Therapy · doi:10.1016/j.ymthe.2005.06.002 · Cited by 174 · see citing works
Genotyping Microarray (Disease Chip) for Leber Congenital Amaurosis: Detection of Modifier Alleles
Zernant, J., Ku¨lm, M., Dharmaraj, S., den Hollander, A. I., Perrault, I., Preising, M. N., Lorenz, B., Kaplan, J., Cremers, F. P. M., Maumenee, I., et al. (2005) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.05-0111 · Cited by 171 · see citing works
Radu, R. A., Mata, N. L., Bagla, A., & Travis, G. H. (2004) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0308302101 · Cited by 167 · see citing works
Liu, C., Li, Y., Peng, M., Laties, A. M., & Wen, R. (1999) · Journal of Neuroscience · doi:10.1523/jneurosci.19-12-04778.1999 · Cited by 166 · see citing works
Sarra, G. (2001) · Human Molecular Genetics · doi:10.1093/hmg/10.21.2353 · Cited by 127 · see citing works
Luiro, K. (2001) · Human Molecular Genetics · doi:10.1093/hmg/10.19.2123 · Cited by 126 · see citing works
Ammann, F., Klein, D. C., & Franceschetti, A. T. (1965) · Journal of the Neurological Sciences · doi:10.1016/0022-510x(65)90079-1 · Cited by 121 · see citing works
Why photoreceptors die (and why they don't)
Fain, G. (2006) · BioEssays · doi:10.1002/bies.20382 · Cited by 111 · see citing works
Klevering, B. J., Yzer, S., Rohrschneider, K., Zonneveld, M. N., Allikmets, R. L., van den Born, L. I., Maugeri, A., Hoyng, C. B., & Cremers, F. P. M. (2004) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5201258 · Cited by 110 · see citing works
Expression of a mutant opsin gene increases the susceptibility of the retina to light damage
Wang, M., Lam, T. T., Tso, M. O. M., & Naash, M. I. (1997) · Visual Neuroscience · doi:10.1017/s0952523800008750 · Cited by 107 · see citing works
Bennett, J., Zeng, Y., Bajwa, R., Klatt, L., Li, Y., & Maguire, A. (1998) · Gene Therapy · doi:10.1038/sj.gt.3300733 · Cited by 107 · see citing works
Mansergh, F. C., Millington‐Ward, S., Kennan, A., Kiang, A., Humphries, M. L., Farrar, G. J., Humphries, P., & Kenna, P. F. (1999) · The American Journal of Human Genetics · doi:10.1086/302344 · Cited by 103 · see citing works
Grover, S., Fishman, G. A., Fiscella, R. G., et al. (1997) · Retina · doi:10.1097/00006982-199705000-00009 · Cited by 97 · see citing works
Vitamin A Supplementation for Retinitis Pigmentosa
Berson, E. L. (1993) · Archives of Ophthalmology · doi:10.1001/archopht.1993.01090110014001 · Cited by 86 · see citing works
Testing for triallelism: analysis of six BBS genes in a Bardet–Biedl syndrome family cohort
Hichri, H., Stoetzel, C., Laurier, V., et al. (2005) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5201372 · Cited by 80 · see citing works
Uteza, Y., Rouillot, J.-S., Kobetz, A., Marchant, D., Pecqueur, S., Arnaud, E., Prats, H., Honiger, J., Dufier, J., Abitbol, M. M., et al. (1999) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.96.6.3126 · Cited by 77 · see citing works
Absence of photoreceptor rescue with D-cis-diltiazem in the rd mouse.
Pawlyk, B. S., Li, T., Scimeca, M. S., et al. (2002) · PubMed · Cited by 74 · see citing works
Saunier, S., Salomon, R., & Antignac, C. (2005) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2005.04.012 · Cited by 68 · see citing works
[Epidemiology and prevalence of hereditary retinal dystrophies in the Northern France].
Puech, B., Kostrubiec, B., Hache, J. C., & François, P. (1991) · PubMed · Cited by 59 · see citing works
Fundus albipunctatus associated with cone dystrophy.
Miyake, Y., Shiroyama, N., Sugita, S., Horiguchi, M., & Yagasaki, K. (1992) · British Journal of Ophthalmology · doi:10.1136/bjo.76.6.375 · Cited by 55 · see citing works
Disease Course of Patients With Pericentral Retinitis Pigmentosa
Sandberg, M. A., Gaudio, A. R., & Berson, E. L. (2005) · American Journal of Ophthalmology · doi:10.1016/j.ajo.2005.02.038 · Cited by 43 · see citing works
Génétique des rétinites pigmentaires : classification métabolique et corrélations phénotype/génotype
Maubaret, C. G., & Hamel, C. (2005) · Journal Français d Ophtalmologie · doi:10.1016/s0181-5512(05)81029-0 · Cited by 19 · see citing works
Self-citationLe point sur le syndrome de Bardet-Biedl
Dollfus, H., Verloès, A., Bonneau, D., et al. (2005) · Journal Français d Ophtalmologie · doi:10.1016/s0181-5512(05)81032-0 · Cited by 11 · see citing works
Données moléculaires du syndrome de Usher
Roux, A. (2005) · Journal Français d Ophtalmologie · doi:10.1016/s0181-5512(05)81030-7 · Cited by 7 · see citing works
Hanein, S., Perrault, I., Gerber, S., Tanguy, G., Hamel, C., Dufier, J., Rozet, J., & Kaplan, J. (2005) · Journal Français d Ophtalmologie · doi:10.1016/s0181-5512(05)81031-9 · Cited by 6 · see citing works
Self-citationSeyedahmadi, B. J., Berson, E. L., & Dryja, T. P. (2005) · Investigative Ophthalmology & Visual Science · Cited by 3 · see citing works
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Research works printed but not linked: 1
- Ammann F, Klein D, Franceschetti A: Genetic and epidemiologi- cal investigation of pigmentary degeneration of the retina and allied disorders in Switzerland. J Neurol Sci 1965, 2:183-196.
Cited by
Sorted by citations
Non-syndromic retinitis pigmentosa
Verbakel, S. K., van Huet, R. A. C., Boon, C. J. F., den Hollander, A. I., Collin, R. W. J., Klaver, C. C. W., Hoyng, C. B., Roepman, R., & Klevering, B. J. (2018) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2018.03.005 · Cited by 973 · see citing works
Cockayne syndrome: Clinical features, model systems and pathways
Karikkineth, A. C., Scheibye-Knudsen, M., Fivenson, E., Croteau, D. L., & Bohr, V. A. (2017) · Ageing Research Reviews · doi:10.1016/j.arr.2016.08.002 · Cited by 262 · 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
Hegele, R. A., Borén, J., Ginsberg, H. N., Arca, M., Averna, M., Binder, C. J., Calabresi, L., Chapman, M. J., Cuchel, M., von Eckardstein, A., et al. (2020) · The Lancet Diabetes & Endocrinology · doi:10.1016/s2213-8587(19)30264-5 · Cited by 204 · see citing works
Photoreceptor Cilia and Retinal Ciliopathies
Bujakowska, K. M., Liu, Q., & Pierce, E. A. (2017) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a028274 · Cited by 194 · see citing works
In Situ Gene Therapy via AAV-CRISPR-Cas9-Mediated Targeted Gene Regulation
Moreno, A. M., Fu, X., Zhu, J., Katrekar, D., Shih, Y.-R. V., Marlett, J., Cabotaje, J., Tat, J., Naughton, J., Lisowski, L., et al. (2018) · Molecular Therapy · doi:10.1016/j.ymthe.2018.04.017 · Cited by 159 · see citing works
Chenais, N. A. L., Airaghi Leccardi, M. J. I., & Ghezzi, D. (2021) · Communications Materials · doi:10.1038/s43246-021-00133-2 · Cited by 110 · see citing works
Gene Therapy in Retinal Dystrophies
Ziccardi, L., Cordeddu, V., Gaddini, L., Matteucci, A., Parravano, M., Malchiodi-Albedi, F., & Varano, M. (2019) · International Journal of Molecular Sciences · doi:10.3390/ijms20225722 · Cited by 107 · see citing works
Treatment of ocular disorders by gene therapy
Solinís, M. Á., del Pozo-Rodríguez, A., Apaolaza, P. S., & Rodríguez-Gascón, A. (2015) · European Journal of Pharmaceutics and Biopharmaceutics · doi:10.1016/j.ejpb.2014.12.022 · Cited by 88 · see citing works
Scholl, H. P. N., Moore, A. T., Koenekoop, R. K., Wen, Y., Fishman, G. A., van den Born, L. I., Bittner, A., Bowles, K., Fletcher, E. C., Collison, F. T., et al. (2015) · PLOS ONE · doi:10.1371/journal.pone.0143846 · Cited by 71 · see citing works
Li, S., Datta, S., Brabbit, E., Love, Z., Woytowicz, V., Flattery, K., Capri, J., Yao, K., Wu, S., Imboden, M., et al. (2021) · Gene Therapy · doi:10.1038/s41434-020-0134-z · Cited by 68 · see citing works
Touchard, E., Berdugo, M., Bigey, P., El Sanharawi, M., Savoldelli, M., Naud, M.-C., Jeanny, J.-C., & Behar-Cohen, F. (2012) · Molecular Therapy · doi:10.1038/mt.2011.304 · Cited by 63 · see citing works
Lam, B. L., Pennesi, M. E., Kay, C. N., Panda, S., Gow, J. A., Zhao, G., MacLaren, R. E., MacLaren, R., Aleman, T., Birch, D., et al. (2024) · Ophthalmology · doi:10.1016/j.ophtha.2024.02.023 · Cited by 51 · see citing works
Non-viral therapeutic approaches to ocular diseases: An overview and future directions
Zulliger, R., Conley, S. M., & Naash, M. I. (2015) · Journal of Controlled Release · doi:10.1016/j.jconrel.2015.10.007 · Cited by 50 · see citing works
Advances in visual prostheses: engineering and biological challenges
Borda, E., & Ghezzi, D. (2022) · Progress in Biomedical Engineering · doi:10.1088/2516-1091/ac812c · Cited by 44 · 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
Interpreting the molecular mechanisms of disease variants in human transmembrane proteins
Tiemann, J. K. S., Zschach, H., Lindorff-Larsen, K., & Stein, A. (2023) · Biophysical Journal · doi:10.1016/j.bpj.2022.12.031 · Cited by 35 · see citing works
Improved content aware scene retargeting for retinitis pigmentosa patients
Al-Atabany, W. I., Tong, T., & Degenaar, P. A. (2010) · BioMedical Engineering OnLine · doi:10.1186/1475-925x-9-52 · Cited by 25 · see citing works
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
Adamus, G. (2021) · Frontiers in Medicine · doi:10.3389/fmed.2021.672444 · Cited by 16 · see citing works
Axonal stimulation affects the linear summation of single-point perception in three Argus II users
Hou, Y., Nanduri, D., Granley, J., Weiland, J. D., & Beyeler, M. (2024) · Journal of Neural Engineering · doi:10.1088/1741-2552/ad31c4 · Cited by 14 · see citing works
Gaillet, V., Borda, E., Zollinger, E. G., & Ghezzi, D. (2021) · Journal of Neural Engineering · doi:10.1088/1741-2552/abf523 · Cited by 10 · see citing works
- Authors
- Hamel, C.
- Affiliations
- Inserm (FR)
- Corresponding author
- Hamel, Christian
- Venue
- Orphanet Journal of Rare Diseases
- Published
- 2006-10-11
- Volume
- 1
- Issue
- 1
- Pages
- 40-40
- ISSN
- 1750-1172 (ISSN-L)
- OpenAlex
- W3188379877
- Cited by
- 962
- References
- 60
- Citations by year
- 2026: 48 · 2025: 77 · 2024: 81 · 2023: 80 · 2022: 93 · 2021: 83 · 2020: 64 · 2019: 65 · 2018: 54 · 2017: 58 · 2016: 46 · 2015: 40 · 2014: 36 · 2013: 31 · 2012: 33
- FWCI
- 0.74
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- Locations
- Orphanet Journal of Rare Diseases (publishedVersion, cc-by)
- PubMed (publishedVersion)
- HAL (submittedVersion, other-oa)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Retinal Development and Disorders
- Health Sciences › Medicine › Ophthalmology › Retinal Diseases and Treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Kidney Cyst Diseases
- Keywords
- retinitis pigmentosa, inherited retinal disease, photoreceptor degeneration, cone-rod dystrophy, Usher syndrome, night blindness, peripheral visual field loss, electroretinogram, genetic heterogeneity, gene therapy, neuroprotection, retinal prosthesis, vitamin therapy, genetic counseling, blindness
- MeSH terms
- Adolescent, Child, Child, Preschool, Diagnosis, Differential, Female, Humans, Infant, Metabolic Diseases, Nervous System Diseases, Night Blindness, Pregnancy, Prenatal Diagnosis, Prognosis, Retinitis Pigmentosa, Rhodopsin, Sensation Disorders, Syndrome, Retinal Rod Photoreceptor Cells
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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