Phenotype #0000302360

Individual ID 00410255
Associated disease -
Phenotype details best corrected visual acuity and refraction right, left eye: 20/40 (-3,75 sph -1,0 cyl 179deg), 20/50 (-4,5 sph -1,0 cyl 157deg); kinetic visual field (target III4e): visual field constriction: III4e: remaining island in the center of 269.2 deg2 (right eye), 265.8 deg2 (left eye), small remaining island in the temporal periphery of 392.4 deg2 (right eye), 405.1 deg2 (left eye); electrophysiology (full-field and multifocal electroretinogram): non-detectable; funduscopic findings: bone-spicule-like pigmentation; attenuated arterioles; bull's eye maculopathy; additional findings: posterior subcapsular cataract; optical coherence tomography right, left eye: 189 um, 202 um
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite retinitis pigmentosa
Age/Examination 22y (22 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-05-22 17:50:41 +02:00 (CEST)
Date last edited N/A

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