Global Variome shared LOVD

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Phenotype #0000314520 Individual ID 00423313 Associated disease - Phenotype details age at 1st examination (years): 26; retinal phenotype (1st examination): drusen, atrophy; best corrected visual acuity right, left eye: 20/25, 20/25; refraction spherical equivalent right, left eye: -4.751-1.25/175deg, -5.50/-1.50/177deg; best corrected visual acuity right, left eye last visit: 20/32, 20/25 Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite North Carolina macular dystrophy Age/Examination 27y (27 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 2022-11-15 13:15:34 +01:00 (CET) Date last edited N/A

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