Global Variome shared LOVD

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Phenotype #0000302359 Individual ID 00410254 Associated disease - Phenotype details best corrected visual acuity and refraction right, left eye: 20/80 (-2,0 sph -0,75 cyl 42deg), 20/250 (-1,75 sph -1,0 cyl 175deg); kinetic visual field (target III4e): visual field constriction: III4e: remaining island in the center of 1203.5 deg2 (right eye), 1528.0 deg2 (left eye); electrophysiology (full-field and multifocal electroretinogram): non-detectable; funduscopic findings: bone-spicule-like pigmentation; attenuated arterioles; patchy RPE-atrophy in the macula; additional findings: posterior subcapsular cataract; optical coherence tomography right, left eye: 104 um, 115 um Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite retinitis pigmentosa Age/Examination 24y (24 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 2022-05-22 17:50:41 +02:00 (CEST) Date last edited N/A

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