Global Variome shared LOVD

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Phenotype #0000304739 Individual ID 00412748 Associated disease - Phenotype details whole single index patient group description: ages at the time of examination: 35-49y; findings typical for retinitis pigmentosa: nightblindness as an early symptom, constricted visual fields and fundoscopic findings of attenuated vessels and intraretinal pigmentation; best-corrected visual acuity ranged from 20/20 to 20/70, with a mean of 20/26; electroretinograms: reduced in amplitude; mixed cone/rod responses to 0.5-Hz flashes of white light ranged in amplitude from 1.3 to 5.0 uV (average=2.7 uV), and cone ERG responses to 30-Hz flashes of white light ranged in amplitude from 0.11 to 2.02 uV (average=0.78) Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite retinitis pigmentosa Age/Examination - 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 2022-07-04 13:11:04 +02:00 (CEST) Date last edited N/A

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