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Page 1
Novel variants in the RDH5 Gene in a Chinese Han family with fundus albipunctatus.
Qian T, Gong Q, Shen H, Li C, Wang G, Xu X, Schrauwen I, Wang W. Qian T, et al. BMC Ophthalmol. 2022 Feb 11;22(1):69. doi: 10.1186/s12886-022-02301-5. BMC Ophthalmol. 2022. PMID: 35148716 Free PMC article.
(Tyr237Cys], within the retinal dehydrogenase 5 (RDH5) gene were found to segregate with fundus albipunctatus in this family in an autosomal recessive matter. CONCLUSION: We identified novel compound heterozygous variants in RDH5 responsible for fundus alb …
(Tyr237Cys], within the retinal dehydrogenase 5 (RDH5) gene were found to segregate with fundus albipunctatus in this family i …
RDH5-Related Fundus Albipunctatus in a Large Japanese Cohort.
Katagiri S, Hayashi T, Nakamura M, Mizobuchi K, Gekka T, Komori S, Ueno S, Terasaki H, Sakuramoto H, Kuniyoshi K, Kusaka S, Nagashima R, Kondo M, Fujinami K, Tsunoda K, Matsuura T, Kondo H, Yoshitake K, Iwata T, Nakano T. Katagiri S, et al. Invest Ophthalmol Vis Sci. 2020 Mar 9;61(3):53. doi: 10.1167/iovs.61.3.53. Invest Ophthalmol Vis Sci. 2020. PMID: 32232344 Free PMC article.
PURPOSE: To investigate clinical characteristics of RDH5-related fundus albipunctatus (FAP) in a Japanese cohort. METHODS: Twenty-five patients from 22 pedigrees with RDH5-related FAP were studied. ...
PURPOSE: To investigate clinical characteristics of RDH5-related fundus albipunctatus (FAP) in a Japanese cohort. METHODS: Twe …
THE TARGET SIGN: A Near Infrared Feature and Multimodal Imaging in a Pluri-Ethnic Cohort with RDH5-Related Fundus Albipunctatus.
Newman H, Perlman I, Pras E, Rozenberg A, Ben-Yosef T, Iovino C, Simonelli F, Di Iorio V, Rotenstreich Y, Katzburg E, Ehrenberg M, Iglicki M, Zur D. Newman H, et al. Retina. 2022 Jul 1;42(7):1364-1369. doi: 10.1097/IAE.0000000000003466. Retina. 2022. PMID: 35250012
PURPOSE: Retinol dehydrogenase 5 (RDH5)-related fundus albipunctatus can present with phenotypic variability. Our purpose was to investigate new clinical characteristics and multimodal imaging findings in patients from different ethnic origins, carrying different mu …
PURPOSE: Retinol dehydrogenase 5 (RDH5)-related fundus albipunctatus can present with phenotypic variability. Our purpose was …
Genetic analysis of congenital stationary night blindness and Oguchi disease in an Indian cohort.
Sundaramurthy S, Malaichamy S, Sen P, Sachidanandam R, Audo I, Zeitz C, Sarangapani S, Soumittra N. Sundaramurthy S, et al. Acta Ophthalmol. 2025 Nov;103(7):e496-e510. doi: 10.1111/aos.17531. Epub 2025 Jun 23. Acta Ophthalmol. 2025. PMID: 40551348
BACKGROUND: Congenital stationary night blindness (CSNB) is a group of genetically and clinically heterogeneous non-progressive retinal disorders and can be classified based on fundus abnormalities as found in Oguchi disease or fundus albipunctatus (FA) or based on …
BACKGROUND: Congenital stationary night blindness (CSNB) is a group of genetically and clinically heterogeneous non-progressive retinal diso …
One-Year Outcomes of Oral Treatment With Alga Capsules Containing Low Levels of 9-cis-beta-Carotene in RDH5-Related Fundus Albipunctatus.
Mizobuchi K, Hayashi T, Ueno S, Kondo M, Terasaki H, Aoki T, Nakano T. Mizobuchi K, et al. Am J Ophthalmol. 2023 Oct;254:193-202. doi: 10.1016/j.ajo.2023.06.013. Epub 2023 Jun 19. Am J Ophthalmol. 2023. PMID: 37343743 Free article.
PURPOSE: This study aimed to clarify the effect of 1-year oral treatment with 9-cis-beta-carotene-rich alga Dunaliella bardawil (Dunaliella supplementation) using full-field electroretinography (ERG) in patients with RDH5-related fundus albipunctatus (FAP). DESIGN: …
PURPOSE: This study aimed to clarify the effect of 1-year oral treatment with 9-cis-beta-carotene-rich alga Dunaliella bardawil (Dunaliella …
HSP90 stabilizes visual cycle retinol dehydrogenase 5 in the endoplasmic reticulum by inhibiting its degradation during autophagy.
Jia X, Wang Y, Jiang M, Chen DD, Shang G, Liu B, Xue M, Lang Y, Zhou G, Dong Y, Zhang F, Peng X, Hu Y. Jia X, et al. J Biol Chem. 2025 Feb;301(2):108126. doi: 10.1016/j.jbc.2024.108126. Epub 2024 Dec 25. J Biol Chem. 2025. PMID: 39725039 Free PMC article.
Genetic mutations in retinol dehydrogenase 5 (RDH5), a rate-limiting enzyme of the visual cycle, is associated with nyctalopia, age-related macular disease, and stationary congenital fundus albipunctatus (FA). A majority of these mutations impair RDH5 protein expres …
Genetic mutations in retinol dehydrogenase 5 (RDH5), a rate-limiting enzyme of the visual cycle, is associated with nyctalopia, age-related …
Fundus albipunctatus disease-associated RDH5/L310delinsEV mutation undertakes AMFR-mediated polyubiquitination and degradation in proteasome.
Dong Y, Xue R, Zhang Y, Jia X, Jiang M, Xue M, Peng X, Wan G, Hu Y. Dong Y, et al. Exp Eye Res. 2026 May;266:110927. doi: 10.1016/j.exer.2026.110927. Epub 2026 Feb 10. Exp Eye Res. 2026. PMID: 41679585
Genetic mutations in retinol dehydrogenase 5 (RDH5) are associated with the inherited autosomal recessive retinal degeneration diseases, especially fundus albipunctatus (FA). Most of RDH5 mutants exhibit downregulation of RDH5 protein expression. ...
Genetic mutations in retinol dehydrogenase 5 (RDH5) are associated with the inherited autosomal recessive retinal degeneration diseases, esp …
Mechanisms and Functions of Chromophore Regeneration in the Classical Visual Cycle: Implications for Retinal Disease Pathogenesis and Therapy.
Yu X, Fan H, Zhang H, Li X. Yu X, et al. Biomolecules. 2025 Dec 1;15(12):1676. doi: 10.3390/biom15121676. Biomolecules. 2025. PMID: 41463332 Free PMC article. Review.
These pathological mechanisms contribute to inherited and acquired retinal diseases, including Stargardt disease type 1, age-related macular degeneration, Leber congenital amaurosis, retinitis pigmentosa, and fundus albipunctatus. Recent therapeutic advances, rangin …
These pathological mechanisms contribute to inherited and acquired retinal diseases, including Stargardt disease type 1, age-related macular …
Congenital stationary night blindness: an update and review of the disease spectrum in Saudi Arabia.
Almutairi F, Almeshari N, Ahmad K, Magliyah MS, Schatz P. Almutairi F, et al. Acta Ophthalmol. 2021 Sep;99(6):581-591. doi: 10.1111/aos.14693. Epub 2020 Dec 26. Acta Ophthalmol. 2021. PMID: 33369259 Free article. Review.
Four novel mutations were identified. For the first time, we describe the fundus albipunctatus in two patients from Saudi Arabia, caused by recessive mutation in RDH5 and RPE65, where the former in addition featured findings compatible with cone dystrophy. ...
Four novel mutations were identified. For the first time, we describe the fundus albipunctatus in two patients from Saudi Arab …
18 results