Phenotype #0000307107

Individual ID	00415310
Associated disease	-
Phenotype details	best corrected visual acuity right, left eye: 5/200, 1/60; refraction (spherical equivalent) right, left eye: ; fundus: optic discs normal, subtle changes in macula, no other abnormalities (50y). central retinal pigment epithelium changes; autofluorescence: not performed; optical coherence tomography:not performed; color vision testing:red-green defect, right eye decreased red sensitivity, left eye scotopization (51y) right eye enlarged defect, left eye stable (54y); visual field (Goldmann):decrease of central sensitivity, no other abnormalities (48y); electroretinogram:photopic and scotopic responses normal, multifocal electroretinography severely reduced responses (51y)
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	macular dystrophy
Age/Examination	71y (71 years)
Age/Diagnosis	50y
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-08-11 14:38:16 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD