Phenotype #0000358857

Individual ID	00474057
Associated disease	RD
Phenotype details	see paper; ..., right asteroid hyalosis. Bilateral retinal vessel attenuation and mid peripheral pigment spicules. Left eye scattered PRP scars. Autofluorescence imaging shows hypoautofluorescence largely confined to the posterior pole with some mottled hypoautofluorescent changes nasally in both eyes, and mild hyperautofluorescence at the macula with a subtle hyperautofluorescent ring. OCT scans show disruption of the ellipsoid zone and loss of outer retina with a small preserved island centrally; Severe rod cone dystrophy with marked macular involvement bilaterally (42yr); Left eye PRP; Diabetes Type II (38y); arthritis; gout; cobalamin deficiency; anemia
Diagnosis/Initial	retinitis pigmentosa
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	51y (51 years)
Age/Diagnosis	-
Age/Onset	38y
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