Global Variome shared LOVD

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

Phenotype #0000301360 Individual ID 00409243 Associated disease - Phenotype details 25y: refraction (diopters): -3.25, best corrected visual acuity right/left eye: 0.18 0.18; cone flicker electroretinogram responses (uV): not detectable / not detectable, rod electroretinogram responses (b-wave, uV): not detectable not detectable; 32y: best corrected visual acuity right/left eye: hand motion 0.5m / hand motion 0.5m Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite retinitis pigmentosa Age/Examination 32y (32 years) 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 2022-05-05 21:20:05 +02:00 (CEST) Date last edited N/A

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