Global Variome shared LOVD

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Phenotype #0000308272 Individual ID 00416552 Associated disease - Phenotype details best corrected visual acuity right, left eye: 20/30, 20/40, refraction: +2.75 /-0.5 x 110 deg, +2.75/-0.75 x 154 deg, further ophthalmic findings: left mild amblyopia and posterior subcapsular cataract, systemic features: hypertension and gout, electroretinogram: scotopic: not performed, photopic: not performed Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite retinitis pigmentosa Age/Examination >45y (later than 45 years) Age/Diagnosis - Age/Onset >30y Phenotype/Onset nyctalopia and visual field loss 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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