Global Variome shared LOVD

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

Phenotype #0000308010 Individual ID 00416243 Associated disease - Phenotype details best corrected visual acuity right, left eye: 0.05, 0.06; refraction: -2.0DS/-4.5DCx 15deg, +0.75DS/-4.0DCx 180deg; funduscopy both eyes: macular degeneration: moderate; optic disk: waxy; artery attenuation: yes; pigment deposits: yes; electroretinography: undetectable; visual field right/left eye: 10deg/<5deg Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite retinitis pigmentosa Age/Examination 66y (66 years) Age/Diagnosis - Age/Onset 27y Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-08-25 20:00:12 +02:00 (CEST) Date last edited N/A

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