RDH5 -Related Fundus Albipunctatus in a Large Japanese Cohort

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

Clinical Ophthalmology

(2020) · Clinical ophthalmology · doi:10.2147/opth · Cited by 590 · 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

The Cone-specific visual cycle

Wang, J.-S., & Kefalov, V. J. (2011) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2010.11.001 · Cited by 335 · see citing works

Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus

Yamamoto, H., Simon, A., Eriksson, U., Harris, E., Berson, E. L., & Dryja, T. P. (1999) · Nature Genetics · doi:10.1038/9707 · Cited by 298 · see citing works

The Retinal Pigment Epithelial-specific 11-cis Retinol Dehydrogenase Belongs to the Family of Short Chain Alcohol Dehydrogenases

Simon, A., Hellman, U., Wernstedt, C., & Eriksson, U. (1995) · Journal of Biological Chemistry · doi:10.1074/jbc.270.3.1107 · Cited by 254 · see citing works

Vitamin A metabolism in the retinal pigment epithelium: genes, mutations, and diseases

Thompson, D. A., & Gal, A. (2003) · Progress in Retinal and Eye Research · doi:10.1016/s1350-9462(03)00051-x · Cited by 200 · see citing works

Muller cells of chicken retina synthesize 11- <i>cis</i> -retinol

Das, S. R., Bhardwaj, N., Kjeldbye, H., & Gouras, P. (1992) · Biochemical Journal · doi:10.1042/bj2850907 · Cited by 135 · see citing works

Disruption of the 11- <i>cis</i> -Retinol Dehydrogenase Gene Leads to Accumulation of <i>cis</i> -Retinols and <i>cis</i> -Retinyl Esters

Driessen, C. A. G. G., Winkens, H. J., Hoffmann, K., Kuhlmann, L. D., Janssen, B. P. M., Van Vugt, A. H. M., Van Hooser, J. P., Wieringa, B. E., Deutman, A. F., Palczewski, K., et al. (2000) · Molecular and Cellular Biology · doi:10.1128/mcb.20.12.4275-4287.2000 · Cited by 132 · see citing works

Phenotypic Variability in RDH5 Retinopathy (Fundus Albipunctatus)

Sergouniotis, P. I., Sohn, E. H., Li, Z., McBain, V. A., Wright, G. A., Moore, A. T., Robson, A. G., Holder, G. E., & Webster, A. R. (2011) · Ophthalmology · doi:10.1016/j.ophtha.2010.12.031 · Cited by 109 · see citing works

A high association with cone dystrophy in Fundus albipunctatus caused by mutations of the RDH5 gene.

Nakamura, M., Hotta, Y., Tanikawa, A., Terasaki, H., & Miyake, Y. (2000) · PubMed · Cited by 106 · see citing works

Oral 9-cis retinoid for childhood blindness due to Leber congenital amaurosis caused by RPE65 or LRAT mutations: an open-label phase 1b trial

Koenekoop, R. K., Sui, R., Sallum, J., van den Born, L. I., Ajlan, R., Khan, A., den Hollander, A. I., Cremers, F. P. M., Mendola, J. D., Bittner, A. K., et al. (2014) · The Lancet · doi:10.1016/s0140-6736(14)60153-7 · Cited by 103 · see citing works

Fundus Albipunctatus Associated with Compound Heterozygous Mutations in RPE65

Schatz, P., Preising, M. N., Lorenz, B., Sander, B., Larsen, M., & Rosenberg, T. (2011) · Ophthalmology · doi:10.1016/j.ophtha.2010.09.005 · Cited by 97 · see citing works

Effect of Pupil Size on Flicker ERGs Recorded With RET eval System: New Mydriasis-Free Full-Field ERG System

Kato, K., Kondo, M., Sugimoto, M., Ikesugi, K., & Matsubara, H. (2015) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.14-16349 · Cited by 93 · see citing works

11-cis retinol dehydrogenase mutations as a major cause of the congenital night-blindness disorder known as fundus albipunctatus.

Gonzalez–Fernandez, F., Kurz, D. E., Bao, Y., Newman, S., Bp, C., Je, Y. T., Dp, H., & Khani, S. C. (1999) · PubMed · Cited by 83 · see citing works

Safety and Proof-of-Concept Study of Oral QLT091001 in Retinitis Pigmentosa Due to Inherited Deficiencies of Retinal Pigment Epithelial 65 Protein (RPE65) or Lecithin:Retinol Acyltransferase (LRAT)

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

Novel RP1L1 Variants and Genotype–Photoreceptor Microstructural Phenotype Associations in Cohort of Japanese Patients With Occult Macular Dystrophy

Fujinami, K., Kameya, S., Kikuchi, S., Ueno, S., Kondo, M., Hayashi, T., Shinoda, K., Machida, S., Kuniyoshi, K., Kawamura, Y., et al. (2016) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.16-19670 · Cited by 70 · see citing works

Whole Exome Analysis Identifies Frequent CNGA1 Mutations in Japanese Population with Autosomal Recessive Retinitis Pigmentosa

Katagiri, S., Akahori, M., Sergeev, Y. V., Yoshitake, K., Ikeo, K., Furuno, M., Hayashi, T., Kondo, M., Ueno, S., Tsunoda, K., et al. (2014) · PLoS ONE · doi:10.1371/journal.pone.0108721 · Cited by 65 · see citing works

Cloning and expression of a cDNA encoding bovine retinal pigment epithelial 11-CIS retinol dehydrogenase.

Driessen, C. A. G. G. (1995) · Vision Research · doi:10.1016/0042-6989(95)98273-c · Cited by 63 · see citing works

Ophthalmic Molecular Genetics

Fishman, G. A. (2004) · Archives of Ophthalmology · doi:10.1001/archopht.122.1.70 · Cited by 63 · see citing works

Cone and Rod Dysfunction in Fundus Albipunctatus with<i>RDH5</i>Mutation: An Electrophysiological Study

Niwa, Y., Kondo, M., Ueno, S., Nakamura, M., Terasaki, H., & Miyake, Y. (2005) · Investigative Opthalmology &amp; Visual Science · doi:10.1167/iovs.04-0638 · Cited by 58 · see citing works

Treatment of a retinal dystrophy, fundus albipunctatus, with oral 9-cis- -carotene

Rotenstreich, Y., Harats, D., Shaish, A., Pras, E., & Belkin, M. (2010) · British Journal of Ophthalmology · doi:10.1136/bjo.2009.167049 · Cited by 51 · see citing works

Effect of Pupil Size on Flicker ERGs Recorded With RETeval System: New Mydriasis-Free Full-Field ERG System

加藤, 久. (2016) · Cited by 50 · see citing works

RDH5 gene mutations and electroretinogram in fundus albipunctatus with or without macular dystrophy

Nakamura, M., Skalet, J., & Miyake, Y. (2003) · Documenta Ophthalmologica · doi:10.1023/a:1024498826904 · Cited by 48 · see citing works

Cone Abnormalities in Fundus Albipunctatus Associated With RDH5 Mutations Assessed Using Adaptive Optics Scanning Laser Ophthalmoscopy

Makiyama, Y., Ooto, S., Hangai, M., Ogino, K., Gotoh, N., Oishi, A., & Yoshimura, N. (2013) · American Journal of Ophthalmology · doi:10.1016/j.ajo.2013.10.021 · Cited by 44 · see citing works

LACK OF AUTOFLUORESCENCE IN FUNDUS ALBIPUNCTATUS ASSOCIATED WITH MUTATIONS IN RDH5

Schatz, P., Preising, M., Lorenz, B., Sander, B., Larsen, M., Eckstein, C., & Rosenberg, T. (2010) · Retina · doi:10.1097/iae.0b013e3181dc050a · Cited by 44 · see citing works

A Novel Haplotype with the R345W Mutation in the EFEMP1 Gene Associated with Autosomal Dominant Drusen in a Japanese Family

Takeuchi, T., Hayashi, T., Bedell, M., Zhang, K., Yamada, H., & Tsuneoka, H. (2010) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.09-4497 · Cited by 42 · see citing works

Improvement in Rod and Cone Function in Mouse Model of Fundus albipunctatus after Pharmacologic Treatment with 9- cis -Retinal

Maeda, A., Maeda, T., & Palczewski, K. (2006) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.06-0215 · Cited by 40 · see citing works

A frequent 1085delC/insGAAG mutation in the RDH5 gene in Japanese patients with fundus albipunctatus.

Wada, Y., Abe, T., Fuse, N., & Tamai, M. (2000) · PubMed · Cited by 39 · see citing works

Multimodal fundus imaging in fundus albipunctatus with RDH5 mutation: a newly identified compound heterozygous mutation and review of the literature

Wang, N.-K., Chuang, L.-H., Lai, C.-C., Chou, C. L., Chu, H.-Y., Yeung, L., Chen, Y.-P., Chen, K.-J., Wu, W.-C., Chen, T.-L., et al. (2012) · Documenta Ophthalmologica · doi:10.1007/s10633-012-9336-z · Cited by 39 · see citing works

Fundus albipunctatus: review of the literature and report of a novel RDH5 gene mutation affecting the invariant tyrosine (p.Tyr175Phe)

Skorczyk‐Werner, A., Pawłowski, P., Michalczuk, M., Warowicka, A., Wawrocka, A., Wicher, K., Bakunowicz‐Łazarczyk, A., & Krawczynski, M. R. (2015) · Journal of Applied Genetics · doi:10.1007/s13353-015-0281-x · Cited by 39 · see citing works

Fundus albipunctatus: A clinical study of the fundus lesions, the physiologic deficit, and the vitamin a metabolism

Marmor, M. F. (1977) · Documenta Ophthalmologica · doi:10.1007/bf01569200 · Cited by 38 · see citing works

Do P1 and N1 evoked by the ERP task reflect primary visual processing in Parkinson's disease?

Wang, L., Kuroiwa, Y., Li, M., Wang, J., & Kamitani, T. (2001) · Documenta Ophthalmologica · doi:10.1023/a:1017550507839 · Cited by 38 · see citing works

High-Definition Optical Coherence Tomographic Visualization of Photoreceptor Layer and Retinal Flecks in Fundus Albipunctatus Associated With Cone Dystrophy

Querques, G. (2009) · Archives of Ophthalmology · doi:10.1001/archophthalmol.2009.87 · Cited by 37 · see citing works

Clinical and Genetic Findings of Autosomal Recessive Bestrophinopathy in Japanese Cohort

Nakanishi, A., Ueno, S., Hayashi, T., Katagiri, S., Kominami, T., Ito, Y., Gekka, T., Masuda, Y., Tsuneoka, H., Shinoda, K., et al. (2016) · American Journal of Ophthalmology · doi:10.1016/j.ajo.2016.04.023 · Cited by 37 · see citing works

Whole-exome sequencing identifies a novel ALMS1 mutation (p.Q2051X) in two Japanese brothers with Alström syndrome.

Katagiri, S., Yoshitake, K., Akahori, M., Hayashi, T., Furuno, M., Nishino, J., Ikeo, K., Tsuneoka, H., & Iwata, T. (2013) · Europe PMC (PubMed Central) · Cited by 34 · see citing works

RPE65 Mutations in Two Japanese Families with Leber Congenital Amaurosis

Katagiri, S., Hayashi, T., Kondo, M., Tsukitome, H., Yoshitake, K., Akahori, M., Ikeo, K., Tsuneoka, H., & Iwata, T. (2014) · Ophthalmic Genetics · doi:10.3109/13816810.2014.991931 · Cited by 30 · see citing works

In vivo imaging of a cone mosaic in a patient with achromatopsia associated with a GNAT2 variant

Ueno, S., Nakanishi, A., Kominami, T., Ito, Y., Hayashi, T., Yoshitake, K., Kawamura, Y., Tsunoda, K., Iwata, T., & Terasaki, H. (2016) · Japanese Journal of Ophthalmology · doi:10.1007/s10384-016-0484-7 · Cited by 30 · see citing works

Acute Angle Closure in the Fellow Eye as a Complication of Prone Positioning After Vitreoretinal Surgery

Sutter, F. K. P. (2003) · Archives of Ophthalmology · doi:10.1001/archopht.121.7.1057-a · Cited by 27 · see citing works

Changes in Outer Retinal Microstructures during Six Month Period in Eyes with Acute Zonal Occult Outer Retinopathy-Complex

Matsui, Y., Matsubara, H., Ueno, S., Ito, Y., Terasaki, H., & Kondo, M. (2014) · PLoS ONE · doi:10.1371/journal.pone.0110592 · Cited by 25 · see citing works

Factors Affecting Mydriasis-Free Flicker ERGs Recorded With Real-Time Correction for Retinal Illuminance: Study of 150 Young Healthy Subjects

Kato, K., Kondo, M., Nagashima, R., Sugawara, A., Sugimoto, M., Matsubara, H., McCulloch, D. L., & Ikesugi, K. (2017) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.17-22587 · Cited by 24 · see citing works

Evaluation of cone function by a handheld non-mydriatic flicker electroretinogram device

Nakamura, N., Fujinami, K., Mizuno, Y., Noda, T., & Tsunoda, K. (2016) · Clinical ophthalmology · doi:10.2147/opth.s104721 · Cited by 24 · see citing works

Long-term Fundus Changes Due to Fundus Albipunctatus Associated With Mutations in the RDH5 Gene

Sekiya, K., Nakazawa, M., Ohguro, H., Usui, T., Tanimoto, N., & Abe, H. (2003) · Archives of Ophthalmology · doi:10.1001/archopht.121.7.1057-b · Cited by 24 · see citing works

Young Monozygotic Twin Sisters With Fundus Albipunctatus and Cone Dystrophy

Nakamura, M. (2004) · Archives of Ophthalmology · doi:10.1001/archopht.122.8.1203 · Cited by 20 · see citing works

Frequency of Unintended Vein and Peripheral Nerve Biopsy With Temporal Artery Biopsy

Johnson, J. G. (2009) · Archives of Ophthalmology · doi:10.1001/archophthalmol.2009.77 · Cited by 19 · see citing works

A contact lens electrode with built-in high intensity white light-emitting diodes. A contact lens electrode with built-in white LEDs.

Kondo, M., Piao, C., Tanikawa, A., Horiguchi, M., & Miyake, Y. (2001) · PubMed · Cited by 18 · see citing works

Compound heterozygous RDH5 mutations in familial fleck retina with night blindness

Hayashi, T., Goto‐Omoto, S., Takeuchi, T., Gekka, T., Ueoka, Y., & Kitahara, K. (2005) · Acta Ophthalmologica Scandinavica · doi:10.1111/j.1600-0420.2005.00575.x · Cited by 17 · see citing works

RDH5 RETINOPATHY (FUNDUS ALBIPUNCTATUS) WITH PRESERVED ROD FUNCTION

Liu, X., Liu, L., Li, H., Xu, F., Jiang, R., & Sui, R. (2014) · Retina · doi:10.1097/iae.0000000000000319 · Cited by 16 · see citing works

A Novel Homozygous Gly107Arg Mutation in the RDH5 Gene in a Japanese Patient with Fundus albipunctatus with Sectorial Retinitis pigmentosa

Sato, M., Oshika, T., Kaji, Y., & Nosé, H. (2004) · Ophthalmic Research · doi:10.1159/000076109 · Cited by 16 · see citing works

Novel biallelic loss-of-function KCNV2 variants in cone dystrophy with supernormal rod responses

Kutsuma, T., Katagiri, S., Hayashi, T., Yoshitake, K., Iejima, D., Gekka, T., Kohzaki, K., Mizobuchi, K., Baba, Y., Terauchi, R., et al. (2019) · Documenta Ophthalmologica · doi:10.1007/s10633-019-09679-6 · Cited by 15 · see citing works

NEAR-INFRARED REFLECTANCE IMAGING IN EYES WITH ACUTE ZONAL OCCULT OUTER RETINOPATHY

Ueno, S., Kawano, K., Ito, Y., Ra, E., Nakanishi, A., Nagaya, M., & Terasaki, H. (2015) · Retina · doi:10.1097/iae.0000000000000502 · Cited by 14 · see citing works

FUNDUS ALBIPUNCTATUS ASSOCIATED WITH CONE DYSFUNCTION

Kuehlewein, L., Nasser, F., Glöckle, N., Kohl, S., & Zrenner, E. (2016) · Retinal Cases & Brief Reports · doi:10.1097/icb.0000000000000420 · Cited by 14 · see citing works

New truncation mutation of the NR2E3 gene in a Japanese patient with enhanced S-cone syndrome

Kuniyoshi, K., Hayashi, T., Sakuramoto, H., Mishima, H., Tsuneoka, H., Tsunoda, K., Iwata, T., & Shimomura, Y. (2016) · Japanese Journal of Ophthalmology · doi:10.1007/s10384-016-0470-0 · Cited by 13 · see citing works

Novel nonsense and splice site mutations in CRB1 gene in two Japanese patients with early-onset retinal dystrophy

Kuniyoshi, K., Ikeo, K., Sakuramoto, H., Furuno, M., Yoshitake, K., Hatsukawa, Y., Nakao, A., Tsunoda, K., Kusaka, S., Shimomura, Y., et al. (2014) · Documenta Ophthalmologica · doi:10.1007/s10633-014-9464-8 · Cited by 13 · see citing works

Late-onset night blindness with peripheral flecks accompanied by progressive trickle-like macular degeneration

Tsunoda, K., Fujinami, K., Yoshitake, K., & Iwata, T. (2019) · Documenta Ophthalmologica · doi:10.1007/s10633-019-09705-7 · Cited by 9 · see citing works

A homozygous frameshift mutation in LRAT causes retinitis punctata albescens

Littink, K. W., van Genderen, M. M., van Schooneveld, M. J., Visser, L., Riemslag, F. C. C., Keunen, J. E. E., Bakker, B., Zonneveld, M. N., den Hollander, A. I., Cremers, F. P. M., et al. (2012) · Ophthalmology · doi:10.1016/j.ophtha.2012.02.037 · Cited by 3 · 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

Cellular and Molecular Mechanisms of Pathogenesis Underlying Inherited Retinal Dystrophies

Manley, A., Meshkat, B. I., Jablonski, M. M., & Hollingsworth, T. (2023) · Biomolecules · doi:10.3390/biom13020271 · Cited by 57 · see citing works

Genotype-Phenotype Correlations in RP1-Associated Retinal Dystrophies: A Multi-Center Cohort Study in JAPAN

Mizobuchi, K., Hayashi, T., Oishi, N., Kubota, D., Kameya, S., Higasa, K., Futami, T., Kondo, H., Hosono, K., Kurata, K., et al. (2021) · Journal of Clinical Medicine · doi:10.3390/jcm10112265 · Cited by 23 · see citing works

A large animal model of RDH5 -associated retinopathy recapitulates important features of the human phenotype

Occelli, L. M., Daruwalla, A., Silva, S. R. D., Winkler, P. A., Sun, K., Pasmanter, N., Minella, A., Querubin, J. R., Lyons, L. A., Robson, A. G., et al. (2021) · Human Molecular Genetics · doi:10.1093/hmg/ddab316 · Cited by 20 · see citing works

Bilateral compressive optic neuropathy and outer retinopathy due to optic canal hyperostosis in a child with isolated vitamin a deficiency

Pereira, A., Ertl-Wagner, B. B., Tumber, A. K., Vincent, A., & Wan, M. J. (2023) · Documenta Ophthalmologica · doi:10.1007/s10633-022-09918-3 · Cited by 19 · see citing works

RP2 ‐associated retinal disorder in a Japanese cohort: Report of novel variants and a literature review, identifying a genotype–phenotype association

Fujinami, K., Liu, X., Ueno, S., Mizota, A., Shinoda, K., Kuniyoshi, K., Fujinami‐Yokokawa, Y., Yang, L., Arno, G., Pontikos, N., et al. (2020) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31830 · Cited by 11 · see citing works

RDH5 and RLBP1-Associated Inherited Retinal Diseases: Refining the Spectrum of Stationary and Progressive Phenotypes

Bianco, L., Antropoli, A., Benadji, A., Condroyer, C., Antonio, A., Navarro, J., Sahel, J., Zeitz, C., & Audo, I. S. (2024) · American Journal of Ophthalmology · doi:10.1016/j.ajo.2024.06.016 · Cited by 10 · see citing works

Novel biallelic TRPM1 variants in an elderly patient with complete congenital stationary night blindness

Hayashi, T., Mizobuchi, K., Kikuchi, S., & Nakano, T. (2020) · Documenta Ophthalmologica · doi:10.1007/s10633-020-09798-5 · Cited by 10 · see citing works

THE TARGET SIGN

Newman, H., Perlman, I., Pras, E., Rozenberg, A., Ben‐Yosef, T., Iovino, C., Simonelli, F., Iorio, V. D., Rotenstreich, Y., Katzburg, E., et al. (2022) · Retina · doi:10.1097/iae.0000000000003466 · Cited by 9 · see citing works

One-Year Outcomes of Oral Treatment With Alga Capsules Containing Low Levels of 9-cis-β-Carotene in RDH5-Related Fundus Albipunctatus

Mizobuchi, K., Hayashi, T., Ueno, S., Kondo, M., Terasaki, H., Aoki, T., & Nakano, T. (2023) · American Journal of Ophthalmology · doi:10.1016/j.ajo.2023.06.013 · Cited by 6 · see citing works

Genetic defects of CHM and visual acuity outcome in 24 choroideremia patients from 16 Japanese families

Hayashi, T., Kameya, S., Mizobuchi, K., Kubota, D., Kikuchi, S., Yoshitake, K., Mizota, A., Murakami, A., Iwata, T., & Nakano, T. (2020) · Scientific Reports · doi:10.1038/s41598-020-72623-1 · Cited by 7 · see citing works

Clinical characterization of autosomal dominant retinitis pigmentosa with NRL mutation in a three-generation Japanese family

Mizobuchi, K., Hayashi, T., Matsuura, T., & Nakano, T. (2022) · Documenta Ophthalmologica · doi:10.1007/s10633-022-09874-y · Cited by 6 · see citing works

Genetic Analysis of Consanguineous Pakistani Families with Congenital Stationary Night Blindness

Baig, H. M. A., Ansar, M., Iqbal, A., Naeem, M. A., Quinodoz, M., Calzetti, G., Iqbal, M., & Rivolta, C. (2021) · Ophthalmic Research · doi:10.1159/000520895 · Cited by 5 · see citing works

Complete congenital stationary night blindness associated with a novel NYX variant (p.Asn216Lys) in middle-aged and older adult patients

Hayashi, T., Murakami, Y., Mizobuchi, K., Koyanagi, Y., Sonoda, K., & Nakano, T. (2021) · Ophthalmic Genetics · doi:10.1080/13816810.2021.1904422 · Cited by 5 · see citing works

Modifiers and their impact on inherited retinal diseases: a review

Ford, L. M., & Petersen‐Jones, S. M. (2025) · Ophthalmic Genetics · doi:10.1080/13816810.2024.2445221 · Cited by 4 · see citing works

Relatively preserved retinal function in RPE65-associated retinopathy: a case report

Mizobuchi, K., Hayashi, T., Kameya, S., Ohta, Y., Kuribayashi, K., & Shinoda, K. (2025) · Documenta Ophthalmologica · doi:10.1007/s10633-025-10007-4 · Cited by 4 · see citing works

A Novel Pathogenic Variant in the RDH5 Gene in a Patient with Fundus Albipunctatus and Severe Macular Atrophy

You, H., & Sierpina, D. I. (2022) · Case Reports in Genetics · doi:10.1155/2022/1183772 · Cited by 3 · see citing works

Whole-Exome Sequencing in Turkish Patients with Inherited Retinal Dystrophies Reveals Novel Variants in Ten Genes

Başdemirci, M., & Eker, H. K. (2023) · Molecular Syndromology · doi:10.1159/000535590 · Cited by 3 · see citing works

Vitamin A deficiency after prolonged intake of an unbalanced diet in a Japanese hemodialysis patient

Kishimoto, N., Hayashi, T., Mizobuchi, K., Kubota, M., & Nakano, T. (2021) · Documenta Ophthalmologica · doi:10.1007/s10633-021-09823-1 · Cited by 3 · see citing works

Clinical characteristics, imaging findings, and genetic results of a patient with CEP290-related cone-rod dystrophy

Vilaplana, F., Ros, A., García, B., Blanco, I., Castellanos, E., Edwards, N. J., Valldeperas, X., Ruiz-Bilbao, S., & Sabala, A. (2021) · Ophthalmic Genetics · doi:10.1080/13816810.2021.1916827 · Cited by 3 · see citing works

Selection signature analysis reveals RDH5 performed key function in vision during sheep domestication process

Hu, R., Jiang, X., Yang, H., & Liu, G. (2023) · Archives animal breeding/Archiv für Tierzucht · doi:10.5194/aab-66-81-2023 · Cited by 4 · see citing works

HSP90 stabilizes visual cycle retinol dehydrogenase 5 in the endoplasmic reticulum by inhibiting its degradation during autophagy

Jia, X., Wang, Y., Jiang, M., Chen, D., Shang, G., Liu, B., Xue, M., Lang, Y., Zhou, G., Dong, Y., et al. (2024) · Journal of Biological Chemistry · doi:10.1016/j.jbc.2024.108126 · Cited by 3 · see citing works

The downregulation of HSP90 ‐controlled CRALBP expression is associated with age‐related vision attenuation

Chen, D., Liu, B., Wang, Y., Jiang, M., Shang, G., Xue, M., Jia, X., Lang, Y., Zhou, G., Zhang, F., et al. (2023) · The FASEB Journal · doi:10.1096/fj.202201608rr · Cited by 2 · see citing works

A NOVEL RLBP1 GENE MUTATION ASSOCIATED WITH RETINAL FLECKS

Issa, M., Sukkarieh, G., Bruneau, S., & Tadayoni, R. (2024) · Retinal Cases & Brief Reports · doi:10.1097/icb.0000000000001574 · Cited by 2 · see citing works

Clinical and Genetic Characteristics of Patients with Peripheral Retinal Flecks in Koreans

Lim, H. Y., & Joo, K. (2024) · Korean Journal of Ophthalmology · doi:10.3341/kjo.2024.0089 · Cited by 1 · see citing works

Expanding the Mutation Spectrum for Inherited Retinal Diseases

Lynn, J., Huang, S. J., Trigler, G. K., Kingsley, R. M., Coussa, R. G., & Bennett, L. D. (2024) · Genes · doi:10.3390/genes16010032 · Cited by 1 · see citing works

Functional and Structural Characterization of a Large Animal Model of RDH5 -Associated Retinopathy

Ford, L. M., Occelli, L. M., Enfield, M. E., Benjamin, N. A., Sun, K., Pasmanter, N., & Petersen‐Jones, S. M. (2026) · Translational Vision Science & Technology · doi:10.1167/tvst.15.8.2 · Cited by 1 · see citing works

Acquired night blindness due to rod dysfunction after long-term hemodialysis

Ueno, S., & Okado, S. (2021) · Japanese Journal of Ophthalmology · doi:10.1007/s10384-021-00883-z · Cited by 1 · see citing works

Genetic disorders causing non-syndromic retinopathy

(2022) · Elsevier eBooks · doi:10.1016/b978-0-12-813944-8.00013-5

Bilateral non-hereditary foveomacular and peripheral retinoschisis in a young female with electrophysiological abnormalities

Raj, P., Parameswarappa, D. C., Poornachandra, B., Sridhar, R., Subashchandra, H. D., & Yadav, N. K. (2026) · Documenta Ophthalmologica · doi:10.1007/s10633-025-10077-4

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Dong, Y., Xue, R., Zhang, Y., Jia, X., Jiang, M., Xue, M., Peng, X., Wan, G., & Hu, Y. (2026) · Experimental Eye Research · doi:10.1016/j.exer.2026.110927

Longitudinal evaluation of peripheral photoreceptor atrophy in fundus albipunctatus

Hayakawa, T., Mizobuchi, K., Hayashi, T., Kominami, T., Nishiguchi, K. M., Ueno, S., Kuniyoshi, K., Kondo, M., Iwata, T., Fujinami, K., et al. (2026) · Japanese Journal of Ophthalmology · doi:10.1007/s10384-026-01337-0

Genetic characterization of inherited retinal dystrophy in a Northwestern Chinese cohort: A single-center study over a 5-year period in Shaanxi, China

Ru, W., Zhang, L., Sun, L.-Y., Zhang, G.-Y., Su, L.-P., Fang, Q., Zhang, B.-W., He, J., Lan, S.-Q., Qiang, W., et al. (2026) · Graefe s Archive for Clinical and Experimental Ophthalmology · doi:10.1007/s00417-026-07543-3

Phenotypic Variability in RDH5 Retinopathy (Fundus Albipunctatus)

Sergouniotis, P. I., Sohn, E. H., Li, Z., McBain, V. A., Wright, G. A., Moore, A. T., Robson, A. G., Holder, G. E., & Webster, A. R. (2011) · Ophthalmology · doi:10.1016/j.ophtha.2010.12.031 · Cited by 109 · see citing works

Fundus albipunctatus with mutations in the RDH5 gene (clinical case)

Zolnikova, I. V., Кадышев, В. В., Владимирович, М. А., Зинченко, Р. А., Chernyak, A. B., Викторович, М. С., Коголева, Л. В., Bobrovskaya, Y. A., Kokoeva, N. S., Egorova, I. V., et al. (2021) · Russian Annals of Ophthalmology · doi:10.17116/oftalma202113701168

RDH5 gene mutations and electroretinogram in fundus albipunctatus with or without macular dystrophy

Nakamura, M., Skalet, J., & Miyake, Y. (2003) · Documenta Ophthalmologica · doi:10.1023/a:1024498826904 · Cited by 48 · see citing works

A Novel Pathogenic Variant in the RDH5 Gene in a Patient with Fundus Albipunctatus and Severe Macular Atrophy

You, H., & Sierpina, D. I. (2022) · Case Reports in Genetics · doi:10.1155/2022/1183772 · Cited by 3 · see citing works

LACK OF AUTOFLUORESCENCE IN FUNDUS ALBIPUNCTATUS ASSOCIATED WITH MUTATIONS IN RDH5

Schatz, P., Preising, M., Lorenz, B., Sander, B., Larsen, M., Eckstein, C., & Rosenberg, T. (2010) · Retina · doi:10.1097/iae.0b013e3181dc050a · Cited by 44 · see citing works