retinoid isomerohydrolase RPE65
Última actualización 6 Oct 2022
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The RPE65 gene provides instructions for making a protein that is essential for normal vision. The RPE65 protein is produced in a thin layer of cells at the back of the eye called the retinal pigment epithelium (RPE). This cell layer supports and nourishes the retina, which is the light-sensitive tissue that lines the back of the eye. The RPE layer is essential for capturing light and vision.
Normal function
The RPE65 gene provides instructions for making a protein that is essential for normal vision. The RPE65 protein is produced in a thin layer of cells at the back of the eye called the retinal pigment epithelium (RPE). This cell layer supports and nourishes the retina, which is the light-sensitive tissue that lines the back of the eye. The RPE layer is essential for capturing light and vision.
The RPE65 protein is involved in a multi-step process called the visual cycle (also called the retinoid or vitamin A cycle), which converts light entering the eye into electrical signals that are transmitted to the brain. When light hits photosensitive pigments in the retina, it changes a molecule called 11-cis retinal (a form of vitamin A) to another molecule called all-trans retinal. This conversion triggers a series of chemical reactions that create electrical signals.
The RPE65 protein is a key enzyme in this cycle as it converts all-trans retinal to 11-cis retinol. Other enzymes then produce 11-cis retinal, so that the visual cycle can begin again and capture light.
Conditions referring to this gene or chromosome
Otros nombres
all-trans-retinyl-palmitate hydrolase
BCO3
LCA2
mRPE65
p63
RBP-binding membrane protein
rd12
retinal pigment epithelium specific protein 65
retinal pigment epithelium-specific 65 kDa protein
retinal pigment epithelium-specific protein 65kDa
retinitis pigmentosa 20 (autosomal recessive)
retinoid isomerohydrolase
retinol isomerase
RP20
RPE65_HUMAN
sRPE65
Related patient information and medicines
Patient information leaflet
Tratamientos para el acné
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Medicine leaflet
Vitamina A
Vitamin A supplements are taken to prevent vitamin A deficiency (although this is rare in the UK). About vitamin A Type of medicine Vitamin A Used for To prevent or treat vitamin A deficiency Also called Retinol Available as Capsules or drops (multivitamin) Vitamin A is a vitamin which is important for healthy eyes, good eyesight and a healthy.
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Eritromicina con zinc
About erythromycin (with zinc) skin solution Type of medicine Antibacterial Used for Acne (spots) Also called Zineryt® (erythromycin with zinc acetate) Available as Topical skin solution Acne is the common cause of spots. There are also other skin preparations available which contain erythromycin and ... These gels/solutions combine erythromycin.
Medicine leaflet
Tazaroteno para la psoriasis
This will help prevent accidentally getting it on other areas of your skin, which could cause irritation. About tazarotene Type of medicine A topical retinoid (similar to vitamin A) Used for Small areas of plaque psoriasis in adults Also called Zorac® (discontinued) Available as Gel Tazarotene is a gel which is applied to the skin to treat plaque.
Medicine leaflet
Cápsulas de Bexaroteno
If you think you are getting an infection or if you have a high temperature, please contact your doctor for advice straightawayAbout bexarotene Type of medicine A retinoid anti-cancer medicine Usado para Linfoma cutáneo de células T (CTCL) Also called Targretin® Available as Capsules Cutaneous T-cell lymphoma (CTCL) is a condition where white blood.
Medicine leaflet
Cápsulas de tretinoína
Ask your doctor about suitable contraception. About tretinoin capsules Type of medicine A retinoid anti-cancer medicine Used for Acute promyelocytic leukaemia Available as Capsules Tretinoin is an anti-cancer medicine used to treat a type of leukaemia called acute promyelocytic leukaemia (APL or APML). This is a cancer where the bone marrow makes.
Lecturas adicionales y referencias
- retinoid isomerohydrolase RPE65; MedlinePlus, National Library of Medicine.
- Daich Varela M, Cabral de Guimaraes TA, Georgiou M, Michaelides M. Leber congenital amaurosis/early-onset severe retinal dystrophy: current management and clinical trials. Br J Ophthalmol. 2022 Apr;106(4):445-451. doi: 10.1136/bjophthalmol-2020-318483. Epub 2021 Mar 12.
- den Hollander AI, Roepman R, Koenekoop RK, Cremers FP. Leber congenital amaurosis: genes, proteins and disease mechanisms. Prog Retin Eye Res. 2008 Jul;27(4):391-419. doi: 10.1016/j.preteyeres.2008.05.003. Epub 2008 Jun 1.
- Huang CH, Yang CM, Yang CH, Hou YC, Chen TC. Leber's Congenital Amaurosis: Current Concepts of Genotype-Phenotype Correlations. Genes (Basel). 2021 Aug 19;12(8):1261. doi: 10.3390/genes12081261.
- Koritala BA, Pennesi M. Autosomal Recessive RPE65-Related Retinal Degeneration. 2019 Nov 14 [updated 2026 Jan 8]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK549574/
- Kumaran N, Pennesi ME, Yang P, Trzupek KM, Michaelides M. Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. 2018 Oct 4 [updated 2025 Dec 4]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK531510/
- Leroy BP, Fischer MD, Flannery JG, MacLaren RE, Dalkara D, Scholl HPN, Chung DC, Spera C, Viriato D, Banhazi J. Gene Therapy for Inherited Retinal Disease: Long-Term Durability of Effect. Ophthalmic Res. 2023;66(1):179-196. doi: 10.1159/000526317. Epub 2022 Sep 14.
- Maguire AM, Russell S, Chung DC, Yu ZF, Tillman A, Drack AV, Simonelli F, Leroy BP, Reape KZ, High KA, Bennett J. Durability of Voretigene Neparvovec for Biallelic RPE65-Mediated Inherited Retinal Disease: Phase 3 Results at 3 and 4 Years. Ophthalmology. 2021 Oct;128(10):1460-1468. doi: 10.1016/j.ophtha.2021.03.031. Epub 2021 Mar 30.
- 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 Mar 17;95(6):3088-93. doi: 10.1073/pnas.95.6.3088.
- Pierce EA, Bennett J. The Status of RPE65 Gene Therapy Trials: Safety and Efficacy. Cold Spring Harb Perspect Med. 2015 Jan 29;5(9):a017285. doi: 10.1101/cshperspect.a017285.
- Redmond TM, Poliakov E, Yu S, Tsai JY, Lu Z, Gentleman S. Mutation of key residues of RPE65 abolishes its enzymatic role as isomerohydrolase in the visual cycle. Proc Natl Acad Sci U S A. 2005 Sep 20;102(38):13658-63. doi: 10.1073/pnas.0504167102. Epub 2005 Sep 6.
- Redmond TM. Focus on Molecules: RPE65, the visual cycle retinol isomerase. Exp Eye Res. 2009 May;88(5):846-7. doi: 10.1016/j.exer.2008.07.015. Epub 2008 Aug 14. No abstract available.
- Sodi A, Banfi S, Testa F, Della Corte M, Passerini I, Pelo E, Rossi S, Simonelli F; Italian IRD Working Group. RPE65-associated inherited retinal diseases: consensus recommendations for eligibility to gene therapy. Orphanet J Rare Dis. 2021 Jun 4;16(1):257. doi: 10.1186/s13023-021-01868-4.
- Thompson DA, Gyurus P, Fleischer LL, Bingham EL, McHenry CL, Apfelstedt-Sylla E, Zrenner E, Lorenz B, Richards JE, Jacobson SG, Sieving PA, Gal A. Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration. Invest Ophthalmol Vis Sci. 2000 Dec;41(13):4293-9.
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