Global Variome shared LOVD

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Phenotype #0000308282 Individual ID 00416562 Associated disease - Phenotype details best corrected visual acuity right, left eye: 0.6, 0.5; refractive error: right, left eye: -1.50 DS , -2.00 DS; fundus appearance both eyes: macular degeneration, waxy optic disk, artery attenuation, pigment deposits; electroretinogram: diminished; visual field right, left eye: <15 deg, <15 deg Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite retinitis pigmentosa Age/Examination 47y (47 years) Age/Diagnosis - Age/Onset 23y Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-09-05 14:10:11 +02:00 (CEST) Date last edited N/A

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