retinitis pigmentosa 100
MONDO:0979574Mondo
Findings
No curated finding names retinitis pigmentosa 100 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
- Young adult onset · Childhood onset
HPO, annotations 2026-09-02
Features
17 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
- Constriction of peripheral visual fieldHPOHP:0001133
- 5 of 5 reported patients
- Hypoautofluorescent retinal lesionHPOHP:0025159
- 2 of 2 reported patients
- NyctalopiaHPOHP:0000662
- 5 of 5 reported patients
- Optic disc pallorHPOHP:0000543
- 3 of 3 reported patients
- Reduced visual acuityHPOHP:0007663
- 4 of 4 reported patients
- Spicular pigmentation of the retinaHPOHP:0007737
- 2 of 2 reported patients
- Undetectable light- and dark-adapted electroretinogramHPOHP:0007688
- 5 of 5 reported patients
- Perifoveal ring of hyperautofluorescenceHPOHP:0030629
- 1 of 2 reported patients
- High myopiaHPOHP:0011003
- 1 of 3 reported patients
- Moderate myopiaHPOHP:0031624
- 1 of 3 reported patients
- ColobomaHPOHP:0000589
- 0 of 5 reported patients
Show the remaining 5
- Frontal bossingHPOHP:0002007
- 0 of 5 reported patients
- Global developmental delayHPOHP:0001263
- 0 of 5 reported patients
- HypertelorismHPOHP:0000316
- 0 of 4 reported patients
- Macular edemaHPOHP:0040049
- 0 of 4 reported patients
- MicrophthalmiaHPOHP:0000568
- 0 of 5 reported patients
Where it sits
- A kind of