Global Variome shared LOVD

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

Phenotype #0000304956 Individual ID 00412970 Associated disease - Phenotype details best corrected visual acuity right, left eye: 20/400, 20/17; spherical equivalent refraction: -1.00, -0.50; lens status: clear; electroretinogram, scotopic: normal, photopic: subnormal; Goldmann perimetry: central scotoma right eye, paracentral scotoma left eye Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite macular dystrophy Age/Examination 55y (55 years) Age/Diagnosis - Age/Onset 55y Phenotype/Onset decrease in visual acuity Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-07-07 11:38:31 +02:00 (CEST) Date last edited N/A

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