Phenotype #0000295815

Individual ID 00403068
Associated disease -
Phenotype details visual acuity right, left eye: 20/25, 20/25; stage, right eye: pseudohypopyon, left eye: pseudohypopyon/cicatricial/atrophic; fluorescein angiography: both eyes: hyperfluorescence of pseudohypopyon in earlier phase due to contribution of FAF, 2 F of pseudohypopyon in late phase, hyperfluorescence in superior part of lesion due to passive leakage; both eyes: marked increased fundus autofluorescence of pseudohypopyon material, mildly increased fundus autofluorescence of rest of the lesion; optical coherence tomography: both eyes: hyperreflective pseudohypopyon, hyporeflectivee subretinal material
Diagnosis/Initial -
Inheritance Familial, autosomal dominant
Diagnosis/Definite dystrophy, macular, vitelliform type 2 (VMD2)
Age/Examination 11y (11 years)
Age/Diagnosis -
Age/Onset 5y
Phenotype/Onset -
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-02-16 14:48:04 +01:00 (CET)
Date last edited N/A

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