Phenotype #0000358858

Individual ID	00474058
Associated disease	RD
Phenotype details	see paper; ..., disc pallor, retinal vessel attenuation, retinal pigment spicules with sparing only of the far temporal peripheral retina, retinal atrophy in the peripapillary and perivascular region. A subtle hyperautofluorescent ring is noted at the macula in BE along with a margin of hyperautofluorescence just within the arcades. OCT scans show generalised outer retinal disruotion with no macula oedema; Not performed; Diabetes Type II; hypertension; ischemic heart disease; late-onset hearing loss (71y); cobalamin deficiency; anemia, MGUS
Diagnosis/Initial	retinitis pigmentosa
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	72y (72 years)
Age/Diagnosis	-
Age/Onset	67y
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2026-03-09 21:39:27 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD