Phenotype #0000255942

Individual ID	00360537
Associated disease	-
Phenotype details	early childhood onset; visual acuity: OD = 20/100, OS = 20/200. There was a moderate left exotropia and pendular nystagmus. Retinal examination was significant for fine RPE mottling and discolouration, fine yellow dots throughout the macula, and pigmentary changes in the foveal region.
Diagnosis/Initial	macular dystrophy
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Manon Peeters
Database submission license
Created by	Johan den Dunnen
Date created	2021-04-06 16:50:09 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD