Phenotype #0000308952

Individual ID	00417466
Associated disease	-
Phenotype details	symptoms: mild photophobia, decreased vision; best corrected visual acuity right, left eye: 20/50; 20/63; refraction right / left eye: +0.50/+0.75; colour vision right/left eye: both eyes normal; kinetic visual field:relative central scotoma within the 5 central degree; blind spot exclusion; normal peripheral isopter; fundus: temporal pale optic disc; subtle foveal changes; fundus autofluorescence: mild hyper-autofluorescent ring around the macular region; subtle 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	47y (47 years)
Age/Diagnosis	-
Age/Onset	25y
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