Phenotype #0000308957

Individual ID	00417471
Associated disease	-
Phenotype details	symptoms: night blindness, mild photophobia, decreased vision; best corrected visual acuity right, left eye: 20/50; 20/50; refraction right / left eye: -2.50 (-1.25)x65deg/-2.50 (-1.25)x60deg; colour vision right/left eye: both eyes deuteranopia; kinetic visual field:relative central scotoma within the 10 central degree; normal peripheral isopter ; fundus: subtle temporal pale optic disc; subtle foveal changes ; fundus autofluorescence: subtle hyper-autofluorescent ring around the macular region; hypo-autofluorescence within the ring ; spectral domain optical coherence tomography: hyper-reflectivity within the foveal outer nuclear layer; hyper-reflectivity of the inner retina
Diagnosis/Initial	-
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	retinal dystrophy dominated by inner retinal dysfunction and ganglion cell abnormalities
Age/Examination	49y (49 years)
Age/Diagnosis	-
Age/Onset	>40y
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-09-16 19:13:29 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD