Phenotype #0000315279
| Individual ID |
00424072 |
| Associated disease |
- |
| Phenotype details |
10y: complaints of nyctalopia and photophobia; despite a hyperopic correction worn from age 5, vision did not improve beyond 0.2; no significant past medical history, no family history of any ocular problems; best-corrected visual acuity right/left eye: 0.3 / 0.2; normal colour vision; ocular alignment and motility: normal with no evidence of nystagmus; fundus: granular with marked atrophy outside the arcades and arteriolar attenuation, minimal retinal pigmentation and mild disc pallor; fundus a utofluorescence: perifoveal ring of hyperautofluorescence correlated to a zone within 1500 microns of the fovea on optical coherence tomography, delineating loss of photoreceptor outer segments and marked thinning of the outer retina; electrophysiology: severely reduced rod and cone responses, indicating a moderately severe rod-cone retinal dystrophy; within a month, the proband presented acutely with end-stage renal failure requiring urgent peritoneal dialysis |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
Senior-Loken syndrome |
| Age/Examination |
16y (16 years) |
| Age/Diagnosis |
10y |
| Age/Onset |
- |
| Phenotype/Onset |
nyctalopia and photophobia |
| Protein |
- |
| Owner name |
LOVD |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Anna Tracewska |
| Date created |
2022-11-16 16:15:27 +01:00 (CET) |
| Date last edited |
N/A |
|
