Global Variome shared LOVD

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Phenotype #0000303155 Individual ID 00411065 Associated disease - Phenotype details VA: 0.2/0.3; Mild RPE depigmentation along the vascular arcades with yellowish/white dots in both eyes. Mild RPE depigmen- tation was observed also in the macular area. Optic disc, reti- nal vessels and extreme periphery were normal. Vitreous opacities in both eyes. Cystoid maculopathy; Not available ; Diagnosis/Initial NR2E3-related retinal dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 11y (11 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Julia Lopez Date created 2022-05-31 18:45:49 +02:00 (CEST) Date last edited N/A

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