Global Variome shared LOVD

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Phenotype #0000295810 Individual ID 00403063 Associated disease - Phenotype details visual acuity right, left eye: 20/25, 20/100; stage, right eye: cicatricial, left eye: cicatricial; fluorescein angiography: both eyes: hyperfluorescence, passive leakage into scar; both eyes: decreased fundus autofluorescence of scar with residual areas of mildly increased fundus autofluorescence; optical coherence tomography: both eyes: adhesion between retina a underlying hyperreflective material, left eye: intraretinal cystoid changes Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite dystrophy, macular, vitelliform type 2 (VMD2) Age/Examination 17y (17 years) Age/Diagnosis - Age/Onset 12y 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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