Global Variome shared LOVD

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Phenotype #0000295823 Individual ID 00403076 Associated disease - Phenotype details visual acuity right, left eye: 20/25, 20/100; stage, right eye: vitelliruptive_scrambled-egg/cicatricial, left eye: vitelliruptive_scrambled-egg/cicatricial; fluorescein angiography: both eyes: hyperfluorescence, passive leakage; both eyes: remnants of increased fundus autofluorescence, decreased fundus autofluorescence of cicatricial parts; optical coherence tomography: both eyes: adhesion between retina and underlyinghyperreflective cicatricial material, surrounded by hyporeflective subretinal material Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite dystrophy, macular, vitelliform type 2 (VMD2) Age/Examination 24y (24 years) Age/Diagnosis - Age/Onset 16y 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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