Global Variome shared LOVD

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

Phenotype #0000296946 Individual ID 00404357 Associated disease - Phenotype details measurements right, left eye: visual acuity: 20/30, 20/25, refraction (spherical/cylindrical): +0.5/0.5 x 100deg, +1/0.5 x 60deg, anterior chamber depth: 3.2, 3.2, axial length: 22.6, 22.2, electro-oculogram Arden ratio: 1.0, 1.0, intraocular pressure (mmHg): 18, 18 Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite autosomal recessive bestrophinopathy Age/Examination 9y (9 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-03-01 14:41:27 +01:00 (CET) Date last edited N/A

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