retinitis pigmentosa 86
MONDO:0032834Mondo
Findings
No curated finding names retinitis pigmentosa 86 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
10 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.
- Attenuation of retinal blood vesselsHPOHP:0007843
- 3 of 3 reported patients
- Nummular pigmentation of the retinaHPOHP:0030505
- 3 of 3 reported patients
- NyctalopiaHPOHP:0000662
- 3 of 3 reported patients
- Progressive visual lossHPOHP:0000529
- 3 of 3 reported patients
- Spicular pigmentation of the retinaHPOHP:0007737
- 3 of 3 reported patients
- Optic disc pallorHPOHP:0000543
- 2 of 3 reported patients
- Retinal pigment epithelial atrophyHPOHP:0007722
- 2 of 3 reported patients
- Cortical cataractHPOHP:0100019
- 1 of 3 reported patients
- Cystoid macular edemaHPOHP:0011505
- 1 of 3 reported patients
- Hyperautofluorescent retinal lesionHPOHP:0025158
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.
- KIAA1549HGNC:22219
- Strong · ClinGen · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
- A kind of