Phenotype #0000302358

Individual ID	00410253
Associated disease	-
Phenotype details	best corrected visual acuity and refraction right, left eye: 20/50 (-1,75 sph -0,25 cyl 138deg), 20/630 (-2,5 sph -1,0 cyl 22deg); kinetic visual field (target III4e): visual field constriction: III4e: remaining island in the center of 162.0 deg2 (right eye), 165.5 deg2 (left eye), small remaining island in the temporal periphery of 1012.7 deg2 (right eye), 1401.9 deg2 (left eye); electrophysiology (full-field and multifocal electroretinogram): non-detectable; funduscopic findings: bone-spicule-like pigmentation; attenuated arterioles; bull's eye maculopathy; optic disc pallor; additional findings: posterior subcapsular cataract; optical coherence tomography right, left eye: 154 um, 126 um
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	retinitis pigmentosa
Age/Examination	26y (26 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-05-22 17:50:41 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD