Phenotype #0000224141

Individual ID	00296740
Associated disease	-
Phenotype details	26y-night blindness; 30y-diagnosis rod-cone dystrophy, best corrected visual acuity 20/63 both eyes with optimized myopic optical correction (R −6 (−2)0, L −8(−2)0), ERG full field undetectable, severe generalized photoreceptor dysfunction; 40y-catarct surgery both eyes; 55y-BVCA R 20/500, L 20/320, severe dyschromatopsia, bilateral severe visual field constriction 15 degrees at the binocular III4e test, funds coarse pigment migrations, atrophic changes macula, widespread alterations posterior pole and peripheral retina, patchy loss autofluorescence macula, severe thinning outer nuclear layer both eyes, loss hyper reflective outer retinal bands, hyper reflective material present above retinal pigment epithelium/Bruch’s membrane complex
Diagnosis/Initial	rod-cone dystrophy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	RP77
Age/Examination	55y (55 years)
Age/Diagnosis	30y
Age/Onset	26y
Phenotype/Onset	night blindness
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-04-12 10:35:14 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD