Phenotype #0000261842

Individual ID	00366504
Associated disease	-
Phenotype details	During preoperative evaluation for cataract surgery, she was found to have cystoid macula edema and was referred to our institution for further workup. On presentation, she reported gradually decreasing vision in both eyes, floaters, and photopsias but no photophobia or hearing problems. Her examination was notable for a BCVA of 20/400 in both eyes, sluggish left pupil but no afferent pupillary defect in either eye, and 2+ posterior subcapsular cataracts in both eyes.
Diagnosis/Initial	Stargardt disease
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	STGD1
Age/Examination	-
Age/Diagnosis	-
Age/Onset	8y
Phenotype/Onset	clinal diagnosis
Protein	-
Owner name	Stéphanie Cornelis
Database submission license
Created by	Stéphanie Cornelis
Date created	2021-05-03 14:25:36 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD