Phenotype #0000301963

Individual ID	00409847
Associated disease	-
Phenotype details	15-17y: particularly decreased central vision; as a young child, she had worn a patch for a period of time; best corrected visual acuity and refraction right, left eye: 20/80, 20/40, -6.75-1.25x026, -5.25-0.75x056; large angle esotropia at near with correction (50 prism diopters); ductions full, V-pattern; . anterior segment slit-lamp examination: normal; retinal examination: optic disc pallor, peripapillary atrophy, vascular attenuation, central maculopathy, peripheral mottling, and central hyperautofluorescence; electroretinography: rod-cone dysfunction
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	rod-cone dystrophy
Age/Examination	17y (17 years)
Age/Diagnosis	-
Age/Onset	0m
Phenotype/Onset	poor vision since soon after birth, particularly poor night vision
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-05-12 11:42:14 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD