Phenotype #0000358855

Individual ID	00474055
Associated disease	RD
Phenotype details	see paper; ..., Goldmann VF (BE): concentric narrowing (V4e target 20° RE and 40° LE, III4e target 10° RE and 15° LE), no peripheral residual islands BE (60yr); Bone spicule pigment deposits in the mid-periphery (60yr) and RPE rarification. OCT (BE): well-preserved foveal structure and EZ line, but outside the fovea thinning of the OS and RPE (60yr); Extinguished rod and cone responses (60yr) ; Cataract surgery OU at age 45 ys. mfERG: no reproducible responses. Microperimetry: OU markedly decreased average threshold, central responses reduced, towards periphery no responses; hypertension (45y); diabetes Type II (45y)
Diagnosis/Initial	retinitis pigmentosa
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	60y (60 years)
Age/Diagnosis	-
Age/Onset	45y
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