Retinitis pigmentosa 87 with choroidal involvement: genes and variants
Retinitis pigmentosa 87 with choroidal involvement is linked to 1 analyzed protein (RPE65). 2 DNA variants are known to cause it; 5 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 Retinitis pigmentosa 87 with choroidal involvement
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.
2 disease-causing and 5 uncertain variants in RPE65 are linked to Retinitis pigmentosa 87 with choroidal involvement.
Known disease-causing variants in Retinitis pigmentosa 87 with choroidal involvement
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| RPE65 E102K | 102 | Disease-causing (★★) | |
| RPE65 V240F | 240 | Disease-causing (★★) |
Same protein, different disease
- RPE65-related recessive retinopathy is also caused by RPE65 variants; they fall mostly in different places as the Retinitis pigmentosa 87 with choroidal involvement variants (83 disease-causing).
- Leber congenital amaurosis is also caused by RPE65 variants; they fall mostly in different places as the Retinitis pigmentosa 87 with choroidal involvement variants (29 disease-causing).
- Retinitis pigmentosa is also caused by RPE65 variants; they fall mostly in different places as the Retinitis pigmentosa 87 with choroidal involvement variants (21 disease-causing).
Diseases related to Retinitis pigmentosa 87 with choroidal involvement
- Retinitis pigmentosa, also linked to RPE65
- Leber congenital amaurosis, also linked to RPE65
- RPE65-related recessive retinopathy, also linked to RPE65
- Autosomal recessive retinitis pigmentosa, also linked to RPE65
Frequently asked questions
Which genes are linked to Retinitis pigmentosa 87 with choroidal involvement?
In CATVariant, Retinitis pigmentosa 87 with choroidal involvement is linked to 1 analyzed protein: RPE65 (Retinoid isomerohydrolase).
How many genetic variants are linked to Retinitis pigmentosa 87 with choroidal involvement?
14 variants: 2 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 5 are of uncertain significance or have conflicting reports.
Which uncertain variants in Retinitis pigmentosa 87 with choroidal involvement 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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