RPE65-related recessive retinopathy: genes and variants
RPE65-related recessive retinopathy is linked to 1 analyzed protein (RPE65). 83 DNA variants are known to cause it; 12 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to RPE65-related recessive retinopathy
RPE65: Retinoid isomerohydrolase
It regenerates 11-cis-retinoid chromophore in the retinal pigment epithelium, allowing visual pigments to recover after light exposure. Biallelic loss-of-function variants cause severe inherited retinal dystrophy, and RPE65-associated disease is treatable with approved gene-replacement therapy.
83 disease-causing and 12 uncertain variants in RPE65 are linked to RPE65-related recessive retinopathy.
Known disease-causing variants in RPE65-related recessive retinopathy
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| RPE65 G104D | 104 | Disease-causing (★★★) | |
| RPE65 H182Y | 182 | Disease-causing (★★★) | |
| RPE65 H182R | 182 | Disease-causing (★★★) | |
| RPE65 P363H | 363 | Disease-causing (★★★) | |
| RPE65 Y431C | 431 | Disease-causing (★★★) | |
| RPE65 P467A | 467 | Disease-causing (★★★) | |
| RPE65 D482G | 482 | Disease-causing (★★★) | |
| RPE65 G484V | 484 | Disease-causing (★★★) | |
| RPE65 G484D | 484 | Disease-causing (★★★) | |
| RPE65 H527Y | 527 | Disease-causing (★★★) | |
| RPE65 H527R | 527 | Disease-causing (★★★) | |
| RPE65 R91W | 91 | Disease-causing (★★★) | |
| RPE65 P111S | 111 | Disease-causing (★★★) | |
| RPE65 P363T | 363 | Disease-causing (★★★) | |
| RPE65 Y368H | 368 | Disease-causing (★★★) | |
| RPE65 Y431H | 431 | Disease-causing (★★★) | |
| RPE65 P467S | 467 | Disease-causing (★★★) | |
| RPE65 D482N | 482 | Disease-causing (★★★) | |
| RPE65 L67R | 67 | Disease-causing (★★★) | |
| RPE65 H68Y | 68 | Disease-causing (★★★) | |
| RPE65 Y79H | 79 | Disease-causing (★★★) | |
| RPE65 R91P | 91 | Disease-causing (★★★) | |
| RPE65 R91Q | 91 | Disease-causing (★★★) | |
| RPE65 T101I | 101 | Disease-causing (★★★) | |
| RPE65 G104R | 104 | Disease-causing (★★★) | |
| RPE65 G104V | 104 | Disease-causing (★★★) | |
| RPE65 D110G | 110 | Disease-causing (★★★) | |
| RPE65 P111T | 111 | Disease-causing (★★★) | |
| RPE65 Y144D | 144 | Disease-causing (★★★) | |
| RPE65 A145T | 145 | Disease-causing (★★★) | |
| RPE65 A145D | 145 | Disease-causing (★★★) | |
| RPE65 A145P | 145 | Disease-causing (★★★) | |
| RPE65 G187E | 187 | Disease-causing (★★★) | |
| RPE65 N191D | 191 | Disease-causing (★★★) | |
| RPE65 F252S | 252 | Disease-causing (★★★) | |
| RPE65 T306I | 306 | Disease-causing (★★★) | |
| RPE65 H313R | 313 | Disease-causing (★★★) | |
| RPE65 R347C | 347 | Disease-causing (★★★) | |
| RPE65 A415V | 415 | Disease-causing (★★★) | |
| RPE65 E417Q | 417 | Disease-causing (★★★) | |
| RPE65 P470L | 470 | Disease-causing (★★★) | |
| RPE65 V473D | 473 | Disease-causing (★★★) | |
| RPE65 A507V | 507 | Disease-causing (★★★) | |
| RPE65 G528V | 528 | Disease-causing (★★★) | |
| RPE65 F530L | 530 | Disease-causing (★★★) | |
| RPE65 G40S | 40 | Disease-causing (★★★) | |
| RPE65 L42F | 42 | Disease-causing (★★★) | |
| RPE65 R44Q | 44 | Disease-causing (★★★) | |
| RPE65 Y239D | 239 | Disease-causing (★★★) | |
| RPE65 C330Y | 330 | Disease-causing (★★★) | |
| RPE65 A434E | 434 | Disease-causing (★★★) | |
| RPE65 V452G | 452 | Disease-causing (★★★) | |
| RPE65 R515W | 515 | Disease-causing (★★★) | |
| RPE65 L22P | 22 | Disease-causing (★★★) | |
| RPE65 G46E | 46 | Disease-causing (★★★) | |
| RPE65 R118S | 118 | Disease-causing (★★★) | |
| RPE65 E148D | 148 | Disease-causing (★★★) | |
| RPE65 T162P | 162 | Disease-causing (★★★) | |
| RPE65 A179V | 179 | Disease-causing (★★★) | |
| RPE65 E254D | 254 | Disease-causing (★★★) |
Showing 60 of 83.
Same protein, different disease
- Leber congenital amaurosis is also caused by RPE65 variants; they fall in the same places as the RPE65-related recessive retinopathy variants (29 disease-causing).
- Retinitis pigmentosa is also caused by RPE65 variants; they fall in the same places as the RPE65-related recessive retinopathy variants (21 disease-causing).
Diseases related to RPE65-related recessive retinopathy
- Retinitis pigmentosa, also linked to RPE65
- Leber congenital amaurosis, also linked to RPE65
- Autosomal recessive retinitis pigmentosa, also linked to RPE65
- Retinitis pigmentosa 87 with choroidal involvement, also linked to RPE65
Frequently asked questions
Which genes are linked to RPE65-related recessive retinopathy?
In CATVariant, RPE65-related recessive retinopathy is linked to 1 analyzed protein: RPE65 (Retinoid isomerohydrolase).
How many genetic variants are linked to RPE65-related recessive retinopathy?
118 variants: 83 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 12 are of uncertain significance or have conflicting reports.
Which uncertain variants in RPE65-related recessive retinopathy look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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