Global Variome shared LOVD

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Phenotype #0000305761 Individual ID 00413796 Associated disease - Phenotype details VA: 20/20 OD and 20/400 OS (his amblyopic eye); waxy disc pallor, attenuated vessels, macular pigment mottling, and granular pigment changes inferiorly below the arcades; (more in paper) Diagnosis/Initial retinal dystrophy Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 40y Phenotype/Onset sensitivity to light, difficulty with night vision, and decreased pericentral and peripheral vision Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Julia Lopez Date created 2022-07-22 03:34:11 +02:00 (CEST) Date last edited N/A

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