Phenotype #0000055954
| Individual ID |
00076179 |
| Associated disease |
? |
| Diagnosis/Initial |
- |
| Diagnosis/Definite |
- |
| Phenotype details |
Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull's eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes |
| Inheritance |
Unknown |
| Age/Examination |
- |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
unknown |
| Protein |
- |
| Tumor/MSI |
- |
| Diagnosis/Criteria |
- |
| Owner name |
Stéphanie Cornelis |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Stéphanie Cornelis |
| Date created |
2016-02-22 12:22:09 +01:00 (CET) |
| Date last edited |
N/A |
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