Global Variome shared LOVD

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

Phenotype #0000295596 Individual ID 00402835 Associated disease - Phenotype details lesions, right eye/left eye: single, vitelliruptive lesion/vitelliform lesion, visual acuity: right eye, left eye: 20/160, 20/25, color vision: errors, visual field: relative scotoma, multifocal electroretinography: right eye: r1-2 (61); left eye: all rings (61) reduced, electro-oculogram right eye/left eye: 132/154 Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite dystrophy, macular, vitelliform type 2 (VMD2) Age/Examination 54y6m (54 years, 6 months) Age/Diagnosis - Age/Onset 53y Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-02-11 14:52:14 +01:00 (CET) Date last edited N/A

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