Phenotype #0000295814
| Individual ID |
00403067 |
| Associated disease |
- |
| Phenotype details |
visual acuity right, left eye: 20/200, 20/40; stage, right eye: pseudohypopyon/cicatricial/atrophic, left eye: vitelliruptive_scrambled-egg; fluorescein angiography: right eye: hyperfluorescence due to passive leakage, possibly from scar from old CNV, left eye: passive leakage and window defect; right eye: marked increased fundus autofluorescence of pseudohypopyon material, decreased fundus autofluorescence of atrophic/cicatricial part, mildly increased fundus autofluorescence of rest of the lesion, left eye: increased fundus autofluorescence of yellowish material; optical coherence tomography: right eye: hyperreflective pseudohypopyon, hyporeflective subretinal material, hyperreflective of cicatricial/atrophic area, which adheres to overlying thinned retina, left eye: hyporeflective subretinal material, some hyperreflective deposition |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal dominant |
| Diagnosis/Definite |
dystrophy, macular, vitelliform type 2 (VMD2) |
| Age/Examination |
45y (45 years) |
| Age/Diagnosis |
- |
| Age/Onset |
<5y |
| 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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