Global Variome shared LOVD

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Phenotype #0000305762 Individual ID 00413797 Associated disease - Phenotype details At 69 VA: 20/200 eccentrically in both eyes; pigment mottling of the macula, which correlated with worse hypoautofluorescent mottling of the macula and hyperautofluorescence of the perimacula; severe dysfunction of both cone and rod-system responses; (more in paper) Diagnosis/Initial retinal dystrophy Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 60y Phenotype/Onset slow progressive loss of 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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