retinitis pigmentosa 87 with choroidal involvement
MONDO:0032873Mondo
Findings
No curated finding names retinitis pigmentosa 87 with choroidal involvement yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
5 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Chorioretinal atrophyHPOHP:0000533
- Nummular pigmentation of the retinaHPOHP:0030505
- Peripheral visual field lossHPOHP:0007994
- Pigmentary retinopathyHPOHP:0000580
- Spicular pigmentation of the retinaHPOHP:0007737
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- RPE65HGNC:10294
- Definitive · Natera · Autosomal dominant · 2025
- Limited · Ambry Genetics · Autosomal dominant · 2024