Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000296298 Individual ID 00403559 Associated disease - Phenotype details visual acuity at onset right / left eye: 0.8/0.8), visual acuity present right / left eye: 0.9/0.1, clinical findings right/left eye: vitelliruptive/fibrotic, unifocal right eye/multifocal left eye, optical coherence tomography - foveal thickness (right/left eye, um):282/323, multifocal electroretinography: not performed, electro-oculogram Arden ratio: 1.3/1.2, full-field ERG (rod, rod-cone, 30Hz flicker amplitudes, and implicit time): 142%, 105%, 58%, 10 Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite dystrophy, macular, vitelliform type 2 (VMD2) Age/Examination 10y (10 years) Age/Diagnosis - Age/Onset 10y Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-02-18 14:02:58 +01:00 (CET) Date last edited N/A

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