Global Variome shared LOVD

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Phenotype #0000292617 Individual ID 00399512 Associated disease - Phenotype details Snellen best corrected visual acuity right/left eye: 0.5/0.5, kinetic visual field with target III4e: not performed, full-field electroretinography: nondetectable, funduscopic findings: peripheral white dots, foveal thickness (μm) right/left eye: 150/154, color vision: mild unspecific change Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite retinitis punctate albescens Age/Examination 7y (7 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 2022-01-21 12:18:12 +01:00 (CET) Date last edited N/A

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