Phenotype #0000260805
| Individual ID |
00365467 |
| Associated disease |
- |
| Phenotype details |
Three offspring of nonconsanguineous parents developed visual abnormalities within the first decade of life. All three children had visual acuities of 20/100 OU (oculus uterque/both eyes) or worse when examined at the ages of 11, 9, and 7 yr, respectively. Fundus Examination revealed bull’s eye maculopathy and pigment clumps surrounded by atrophy in the equatorial region OU with a flat, darkly pigmented choroidal lesion in the temporal macula OD (oculus dextrus/right eye) of III:I, while III:II exhibited foveal atrophy with subretinal hypopigmented lesions anterior to the arcades and optic disk pallor; the subretinal lesions and macular atrophy were hyperfluorescent, but there was a dark choroid around the optic nerve on fluorescein angiography. Patient III:III exhibited foveal atrophy OU and faint pigment clumps surrounded by RPE atrophy anterior to the arcades, with a superotemporal flat pigmented choroidal lesion OS (oculus sinister/left eye) similar to that seen in III:I. Visual field testing revealed central scotomata OU in III:I, but III:II showed a peripheral island OD and constriction to the central 35 degrees OS; visual field testing was unreliable in III:III. Electroretinography demonstrated a cone-rod pattern of dysfunction in all three patients. |
| Diagnosis/Initial |
Stargardt disease |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
STGD1 |
| Age/Examination |
- |
| Age/Diagnosis |
- |
| Age/Onset |
<11y |
| Phenotype/Onset |
unknown |
| 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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