Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000302433 Individual ID 00410329 Associated disease - Phenotype details presentation: difficulty driving at night; best corrected visual acuity right, left eye: 20/25; 20/25; visual field: not available; fundus features: bilateral peripapillary atrophy & peripheral reticular pigmentation; fundus autofluorescence: not available; optical coherence tomography: not available; electroretinogram: not available Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite retinitis pigmentosa Age/Examination 48y (48 years) Age/Diagnosis - Age/Onset - Phenotype/Onset difficulty driving at night Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-05-24 11:34:37 +02:00 (CEST) Date last edited N/A

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