Phenotype #0000263948
| Individual ID |
00368610 |
| Associated disease |
- |
| Phenotype details |
The first and the oldest affected brother (II:1) presented to our practice at age 17 with a history of progressive vision loss from age 7 and was diagnosed with “functional visual loss” at age 10. His acuity at age 17 was 20/120 in both eyes with diffuse fine pigmentation in the macula surrounded by fine yellow flecks. Electrophysiology (pre-ISCEV standard era) at age 17 showed normal light-adapted ERG responses and a reduced Arden ratio of 1.3. By the age of 20, his VA had declined to 20/200 in both eyes. From the age of 46, his VA was 20/600 in both eyes and remained unchanged at age 60. OCT showed significant outer retinal atrophy with large areas of RPE loss in the posterior pole sparing the eripapillary region. Heterogeneous AF signal outside the macular atrophy extended anterior to the equator. Follow-up electrophysiology (ISCEV 2016) at the age of 57 showed profoundly reduced dark- and light-adapted full-field and pattern ERG responses. |
| Diagnosis/Initial |
Stargardt disease |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
STGD1 |
| Age/Examination |
- |
| Age/Diagnosis |
- |
| Age/Onset |
7y |
| Phenotype/Onset |
progressive vision loss |
| Protein |
- |
| Owner name |
Stéphanie Cornelis |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Stéphanie Cornelis |
| Date created |
2021-05-03 14:25:36 +02:00 (CEST) |
| Date last edited |
N/A |
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