Overview
Gene (OMIM no.) |
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Function of gene/protein |
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Clinical phenotype (OMIM phenotype no.) |
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Inheritance |
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Signs for LCA/EOSRD |
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Signs for AD-RP |
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Visual function | Autosomal recessive RPE65 retinopathy:
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Systemic features |
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Key investigations |
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Molecular diagnosis | Next generation sequencing:
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Management | |
Therapies under research |
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Further information |
Multimodal imaging

References
- Morimura H, Fishman GA, Grover SA, Fulton AB, Berson EL, Dryja TP. Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis. Proc Natl Acad Sci U S A. 1998;95(6):3088-3093.
- Chung DC, Bertelsen M, Lorenz B, et al. The Natural History of Inherited Retinal Dystrophy Due to Biallelic Mutations in the RPE65 Gene. Am J Ophthalmol. 2019;199:58-70.
- Li S, Xiao X, Yi Z, Sun W, Wang P, Zhang Q. RPE65 mutation frequency and phenotypic variation according to exome sequencing in a tertiary centre for genetic eye diseases in China. Acta Ophthalmol. 2019.
- Thompson DA, Gyürüs Pt, Fleischer LL, et al. Genetics and Phenotypes of RPE65 Mutations in Inherited Retinal Degeneration. Investigative Ophthalmology & Visual Science. 2000;41(13):4293-4299.
- Weleber RG, Michaelides M, Trzupek KM, Stover NB, Stone EM. The phenotype of Severe Early Childhood Onset Retinal Dystrophy (SECORD) from mutation of RPE65 and differentiation from Leber congenital amaurosis. Invest Ophthalmol Vis Sci. 2011;52(1):292-302.
- Hull S, Holder GE, Robson AG, et al. Preserved visual function in retinal dystrophy due to hypomorphic RPE65 mutations. Br J Ophthalmol. 2016;100(11):1499-1505.
- Bowne SJ, Humphries MM, Sullivan LS, et al. A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement. Eur J Hum Genet. 2011;19(10):1074-1081.
- Jauregui R, Park KS, Tsang SH. Two-year progression analysis of RPE65 autosomal dominant retinitis pigmentosa. Ophthalmic Genet. 2018;39(4):544-549.
- Magliyah M, Saifaldein AA, Schatz P. Late presentation of RPE65 retinopathy in three siblings. Doc Ophthalmol. 2020;140(3):289-297.
- Kumaran N, Moore AT, Weleber RG, Michaelides M. Leber congenital amaurosis/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic interventions. Br J Ophthalmol. 2017;101(9):1147-1154
- Lorenz B, Wabbels B, Wegscheider E, Hamel CP, Drexler W, Preising MN. Lack of fundus autofluorescence to 488 nanometers from childhood on in patients with early-onset severe retinal dystrophy associated with mutations in RPE65. Ophthalmology. 2004;111(8):1585-1594
- Jacobson SG, Cideciyan AV, Huang WC, et al. Leber Congenital Amaurosis: Genotypes and Retinal Structure Phenotypes. Adv Exp Med Biol. 2016;854:169-175.
- Russell S, Bennett J, Wellman JA, et al. Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65-mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial. Lancet. 2017;390(10097):849-860