Phenotype #0000308949

Individual ID	00417463
Associated disease	-
Phenotype details	symptoms: mild photophobia, decreased vision; best corrected visual acuity right, left eye: 20/100; 20/250; refraction right / left eye: -1.75 (-1.75)x95deg/-3.75 (-0.5) x70deg; colour vision right/left eye: normal / mild tritanopia; kinetic visual field:relative central scotoma within 10 central degrees with normal peripheral isopter; fundus: temporal optic disc pallor; mild retinal vessel narrowing; foveal changes; fundus autofluorescence: hyper-autofluorescent ring around the macular region; hypo-autofluorescence within the ring with subtle foveal hyper-autofluorescence; spectral domain optical coherence tomography: hyper-reflectivity within the foveal outer nuclear layer; small drusenoid changes in the foveal region; 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	73y (73 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