Global Variome shared LOVD

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Phenotype #0000303093 Individual ID 00411003 Associated disease - Phenotype details BCVA: 20/20; No-lens-opacity; RPE dystrophy at the midperiphery, few bone spicules, Epiretinal membrane ; Epiretinal membrane, temporal ORL atrophy Diagnosis/Initial autosomal recessive retinitis pigmentosa (arRP) Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 33y (33 years) Age/Diagnosis - Age/Onset 22y Phenotype/Onset night blindness and progressive constriction of the visual field 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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