retinitis pigmentosa 88
MONDO:0032940Mondo
Findings
No curated finding names retinitis pigmentosa 88 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Neonatal onset
HPO, annotations 2026-09-02
Features
8 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
- 4 of 4 reported patients
- ExotropiaHPOHP:0000577
- 1 of 1 reported patient
- Macular degenerationHPOHP:0000608
- 1 of 1 reported patient
- NyctalopiaHPOHP:0000662
- 3 of 3 reported patients
- Optic disc pallorHPOHP:0000543
- 4 of 4 reported patients
- Reduced visual acuityHPOHP:0007663
- 4 of 4 reported patients
- Spicular pigmentation of the retinaHPOHP:0007737
- 3 of 3 reported patients · Childhood onset
- Cystoid macular edemaHPOHP:0011505
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.
- RP1L1HGNC:15946
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Semidominant · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2023
Where it sits
- A kind of