Global Variome shared LOVD

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

Phenotype #0000308276 Individual ID 00416556 Associated disease - Phenotype details best corrected visual acuity right, left eye: 20/25, 20/25, refraction: -2.5/-1.0 x 157 deg, -2.0/-1.0 x 7 deg, further ophthalmic findings: posterior subcapsular cataract, keratoconjunctivitis sicc, systemic features: asthma, electroretinogram: scotopic: extinguished, photopic: extinguished Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite retinitis pigmentosa Age/Examination >40y (later than 40 years) Age/Diagnosis - Age/Onset <18y Phenotype/Onset nyctalopia Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-09-05 13:13:43 +02:00 (CEST) Date last edited N/A

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