Phenotype #0000305069

Individual ID	00413088
Associated disease	-
Phenotype details	current symptoms: nyctalopia, glare, reduced visual acuitybest corrected visual acuity right, left eye: 20/600, counting fingers; refraction: not performed (bilateral corneal graft for keratoconus); fundus: macular chorioretinal atrophy, narrowed vessels, midperipheral and peripheral outer retinal atrophy with bone spicule pigmentations ; optical coherence tomography: central atrophy of the outer retina; surrounding retina shows severe thinning of the outer nuclear layer ; fundus autofluorescence: low autofluorescence within central area of atrophy, surrounding ringlike of autofluorescence, periphery with diffuse decrease o autofluorescence ; visual field: Goldmann III/4 concentric restriction; electroretinogram: photopic and scotopic responses extinguished
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	cone-rod dystrophy
Age/Examination	-
Age/Diagnosis	-
Age/Onset	25y
Phenotype/Onset	nyctalopia
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-07-11 14:38:06 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD