Phenotype #0000226978

Individual ID	00299672
Associated disease	-
Phenotype details	25y-vision loss; best corrected visual acuity 0.6/0.4, electroretinogram severely reduced, retinal pigment epithelium atrophy with gray pigments in mid-peripheral retina, patchy hypofluorescence changes peripheral retina, eye hyperfluorescence ring around fovea, optical coherence topography preserved inner segment/outer segment central fovea and epi-retinal membrane right eye; no renal abnormalities
Diagnosis/Initial	retinitis pigmentosa
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	RP80
Age/Examination	25y (25 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-04-19 19:31:28 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD