Phenotype #0000305296

Individual ID	00413314
Associated disease	-
Phenotype details	best corrected visual acuity right, left eye: counting fingers, counting fingers; fundus: bilateral macular atrophy, more marked in the left than right eye; fundus autofluorescence: bilateral decreased autofluorescence corresponding to atrophy seen on ophthalmoscopy, with areas of relative increased autofluorescence at the right macula; electroretinogram: cone responses more markedly reduced than rod; pattern electroretinogram: absent; color vision: absent
Diagnosis/Initial	-
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	cone-rod dystrophy
Age/Examination	58y (58 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-07-14 20:21:02 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD