Global Variome shared LOVD

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Phenotype #0000295816 Individual ID 00403069 Associated disease - Phenotype details visual acuity right, left eye: 20/80, 20/70; stage, right eye: cicatricial, left eye: cicatricial/atrophic; fluorescein angiography: right eye: hyperfluorescence, passive leakage of scar, left eye: passive leakage and window defect; right eye: focal areas of increased fundus autofluorescence, left eye: decreased fundus autofluorescence of cicatricial zone; optical coherence tomography: right eye: adhesion between retina and underlying hyperreflective material, surrounded by hyporeflective subretinal material, left eye: hyperreflective of cicatricia atrophic area Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite dystrophy, macular, vitelliform type 2 (VMD2) Age/Examination 26y (26 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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