Phenotype #0000295811
| Individual ID |
00403064 |
| Associated disease |
- |
| Phenotype details |
visual acuity right, left eye: 20/40, 20/125; stage, right eye: vitelliform (/vitelliruptive_scrambled-egg), left eye: vitelliruptive_scrambled-egg/cicatricial/neovascular; fluorescein angiography: both eyes: hyperfluorescence, passive leakage into lesion; right eye: increased fundus autofluorescence corresponding with vitelliform material left eye: decreased fundus autofluorescence in area of scar with adjacent zone of increased fundus autofluorescence corresponding with yellowish material; optical coherence tomography: right eye: subretinal hyperreflective material left eye: adhesion between retina and underlying hyperreflective material, surrounded by remnant of hyporeflective subretinal material, intraretinal hyporeflective cystoid structure |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal dominant |
| Diagnosis/Definite |
dystrophy, macular, vitelliform type 2 (VMD2) |
| Age/Examination |
12y (12 years) |
| Age/Diagnosis |
- |
| Age/Onset |
10y |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
LOVD |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Anna Tracewska |
| Date created |
2022-02-16 14:48:04 +01:00 (CET) |
| Date last edited |
N/A |
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