Global Variome shared LOVD

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Phenotype #0000305714 Individual ID 00413749 Associated disease - Phenotype details pigmentary changes in the retina; nyctalopia at age 16y; VA with a low myopic correction was 20/20 OU Diagnosis/Initial non-syndromic retinitis pigmentosa (RP) Inheritance Unknown Diagnosis/Definite autosomal-recessive retinitis pigmentosa with erythrocytic microcytosis Age/Examination 19y (19 years) Age/Diagnosis - Age/Onset 16y Phenotype/Onset nyctalopia 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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