Global Variome shared LOVD

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

Phenotype #0000301369 Individual ID 00409252 Associated disease - Phenotype details 20y: refraction (diopters): -1, best corrected visual acuity right/left eye: 0.10 0.10; cone flicker electroretinogram responses (uV): not detectable / not detectable, rod electroretinogram responses (b-wave, uV): not detectable / not detectable; 26y: best corrected visual acuity right/left eye: 0.30 / 0.30; 32y: best corrected visual acuity right/left eye: 0.30 / 0.30 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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