Phenotype #0000245688
| Individual ID |
00327394 |
| Associated disease |
STGD |
| Phenotype details |
proband of family M53 initially diagnosed with a cone-dystrophy. At age 12y-BCVA 20/400 vision both eyes with reduced colour vision, hyper-reflective flecks macula; field ERG revealed reduced photopic b-wave (87 microV,OD; 77 OS, N=95-130); photopic flicker response within normal limits, scotopic series normal; amplitude response mfERG reduced across all five rings, loss of central retinal function; 19y-maculopathy more apparent, features of degeneration seen with fundus autofluorescence imaging and macular thinning observed by OCT; OCT across macula in II-1 from the family showed atrophy of the ellipsoid zone in the central macula; OCT atrophy of the ellipsoid zone in the central macular, decreased central retinal thickness; normal full field ERG, central loss in multi-focal fERG |
| Diagnosis/Initial |
cone-rod dystrophy |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
Stargardt Macular Dystrophy |
| Age/Examination |
15y (15 years) |
| Age/Diagnosis |
15y |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
Lance P Doucette |
| Database submission license |
No license selected |
| Created by |
Lance P Doucette |
| Date created |
2021-01-20 19:59:27 +01:00 (CET) |
| Date last edited |
2021-01-21 13:42:11 +01:00 (CET) |
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