Phenotype #0000226964

Individual ID	00299658
Associated disease	-
Phenotype details	disease severity ranged from mild pigmentary changes to severe retinal pigment epithelium and retinal degeneration, concomitant cone photoreceptor degeneration in older patients manifested by photophobia, color vision changes, decreased central vision; fundus images proband showed abrupt border of chorioretinal degeneration outside posterior pole, sclerosis of choroidal vessels, pigmentary changes macula; nyctalopia (HP:0000662)
Diagnosis/Initial	retinitis pigmentosa
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	RP79
Age/Examination	-
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 14:47:24 +02:00 (CEST)
Date last edited	2020-08-25 10:48:31 +02:00 (CEST)

Global Variome shared LOVD