Phenotype #0000308955

Individual ID	00417469
Associated disease	-
Phenotype details	symptoms: mild photophobia, decreased vision; best corrected visual acuity right, left eye: 20/100; 20/125; refraction right / left eye: -3.50 (-0.75)x110deg/-4.25 (-0.75)x65deg; colour vision right/left eye: both eyes normal; kinetic visual field:relative central scotoma within the 15 central degree; normal peripheral isopter; fundus: subtle temporal pale optic disc; subtle 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; 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	50y (50 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