retinitis punctata albescens
MONDO:0018877Mondo
Findings
No curated finding names retinitis punctata albescens yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
19 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.
- Abnormal light- and dark-adapted electroretinogramHPOHP:0008323
- Very frequent (80% to 99% of cases)
- Absent foveal reflexHPOHP:0030825
- Very frequent (80% to 99% of cases)
- NyctalopiaHPOHP:0000662
- Very frequent (80% to 99% of cases)
- Progressive visual lossHPOHP:0000529
- Very frequent (80% to 99% of cases)
- Yellow/white retinal lesionHPOHP:0030506
- Very frequent (80% to 99% of cases)
- Attenuation of retinal blood vesselsHPOHP:0007843
- Frequent (30% to 79% of cases)
- Central scotomaHPOHP:0000603
- Frequent (30% to 79% of cases)
- Peripheral visual field lossHPOHP:0007994
- Frequent (30% to 79% of cases)
- PhotophobiaHPOHP:0000613
- Frequent (30% to 79% of cases)
- Progressive night blindnessHPOHP:0007675
- Frequent (30% to 79% of cases)
- Progressive visual field defectsHPOHP:0007987
- Frequent (30% to 79% of cases)
- Retinal pigment epithelial mottlingHPOHP:0007814
- Frequent (30% to 79% of cases)
Show the remaining 7
- Abnormal fundus pigmentationHPOHP:0031605
- Occasional (5% to 29% of cases)
- Congenital sensorineural hearing impairmentHPOHP:0008527
- Occasional (5% to 29% of cases)
- Cystoid macular edemaHPOHP:0011505
- Occasional (5% to 29% of cases)
- LenticonusHPOHP:0001142
- Occasional (5% to 29% of cases)
- Macular atrophyHPOHP:0007401
- Occasional (5% to 29% of cases)
- Retinal atrophyHPOHP:0001105
- Occasional (5% to 29% of cases)
Genes
2 genes
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.
Where it sits
- A kind of