PRPH2
Peripherin 2 (RDS); structural glycoprotein of photoreceptor outer segment disc rims. Heterozygous mutations cause RP7 and various macular dystrophies (AD); homozygous mutations cause LCA18 (AR) with earlier onset retinal dystrophy.
Active Clinical Trials
A personalized antisense-oligonucleotide (ASO) therapy for a single participant with a specific pathogenic PRPH2 variant is in a Phase 1/2 study run by the n-Lorem Foundation (nL-PRPH2-001; NCT07177196) — an individualized (n-of-1) treatment, not a generalizable program. Peripherin-2 gene-augmentation proof-of-concept dates back decades to the rds mouse, where AAV delivery restored photoreceptor ultrastructure and function (Ali et al., Nature Genetics 2000).
Sourced & cited — not yet expert-reviewed
Every statement here is backed by a cited primary source, but a specialist has not formally reviewed this page yet.
6p21.1
Autosomal Recessive
<1% of LCA cases
Key Clinical Features
- 1Homozygous PRPH2 mutations cause LCA (AR), heterozygous cause RP7 (AD)
- 2Photoreceptor outer segment disc rim structural defect
- 3Prominent multilobulated central atrophic maculopathy
- 4Vessel narrowing and peripheral salt-and-pepper changes
Clinical Trials
Individualized ASO Therapy for a Single Participant With a PRPH2 Variant
n-Lorem Foundation · Phase 1/2