Patterned dystrophy of the retinal pigment epithelium: genes and variants
Patterned dystrophy of the retinal pigment epithelium is linked to 1 analyzed protein (PRPH2). 11 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 Patterned dystrophy of the retinal pigment epithelium
PRPH2: Peripherin-2
It organizes and stabilizes the rim structure of photoreceptor outer-segment discs. Pathogenic variants cause a wide range of inherited retinal diseases including retinitis pigmentosa, pattern dystrophy, and macular dystrophy.
11 disease-causing and 5 uncertain variants in PRPH2 are linked to Patterned dystrophy of the retinal pigment epithelium.
Where Patterned dystrophy of the retinal pigment epithelium variants cluster
- PRPH2 Lumenal (positions 124–264): 11 of 11 disease-causing changes, 2.5× more than its size predicts.
Known disease-causing variants in Patterned dystrophy of the retinal pigment epithelium
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| PRPH2 R172W | 172 | Lumenal | Disease-causing (★★★★) |
| PRPH2 C213W | 213 | Lumenal | Disease-causing (★★) |
| PRPH2 R172Q | 172 | Lumenal | Disease-causing (★★) |
| PRPH2 P210R | 210 | Lumenal | Disease-causing (★★) |
| PRPH2 W179C | 179 | Lumenal | Disease-causing (★★) |
| PRPH2 L185P | 185 | Lumenal | Disease-causing (★★) |
| PRPH2 P216L | 216 | Lumenal | Disease-causing (★★) |
| PRPH2 R220P | 220 | Lumenal | Disease-causing (★★) |
| PRPH2 L254Q | 254 | Lumenal | Disease-causing (★★) |
| PRPH2 T228I | 228 | Lumenal | Disease-causing (★★) |
| PRPH2 R142W | 142 | Lumenal | Disease-causing (★★) |
Same protein, different disease
- Retinitis pigmentosa is also caused by PRPH2 variants; they fall partly in the same places as the Patterned dystrophy of the retinal pigment epithelium variants (14 disease-causing).
- Pigmentary retinal dystrophy is also caused by PRPH2 variants; they fall partly in the same places as the Patterned dystrophy of the retinal pigment epithelium variants (3 disease-causing).
- Patterned macular dystrophy 1 is also caused by PRPH2 variants; they fall mostly in different places as the Patterned dystrophy of the retinal pigment epithelium variants (3 disease-causing).
Diseases related to Patterned dystrophy of the retinal pigment epithelium
- Retinitis pigmentosa, also linked to PRPH2
- Stargardt disease, also linked to PRPH2
- Cone-rod dystrophy, also linked to PRPH2
- Vitelliform macular dystrophy 2, also linked to PRPH2
- Retinal disorder, also linked to PRPH2
- Pigmentary retinal dystrophy, also linked to PRPH2
- Patterned macular dystrophy 1, also linked to PRPH2
- Choroidal dystrophy, central areolar 2, also linked to PRPH2
Frequently asked questions
Which genes are linked to Patterned dystrophy of the retinal pigment epithelium?
In CATVariant, Patterned dystrophy of the retinal pigment epithelium is linked to 1 analyzed protein: PRPH2 (Peripherin-2).
How many genetic variants are linked to Patterned dystrophy of the retinal pigment epithelium?
21 variants: 11 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 Patterned dystrophy of the retinal pigment epithelium 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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