Phenotype #0000263949

Individual ID	00368611
Associated disease	-
Phenotype details	The second affected brother (II:3) presented at the age of 15 to the same practice, with a history of strabismus operations at age 3 and 7 years and poor vision despite spectacle correction from the age of 6. His presenting VA was 20/60 and 20/120 in right and left eyes respectively with no obvious fundal lesions. Electrophysiology (pre-ISCEV era) also showed a reduced Arden ratio of 1.5 and full-field ERG was not performed. Fluorescein angiography showed a central region of stippled hyperfluorescence with no peripheral lesions. The presence of dark choroid was not specifically mentioned. By age 18, his VA had declined to 20/200 in both eyes. At age 46, his VA declined to 20/600 in both eyes due to extensive retinal atrophy. By the age of 58, his VA reduced to finger counting only in both eyes.
Diagnosis/Initial	Stargardt disease
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	STGD1
Age/Examination	-
Age/Diagnosis	-
Age/Onset	<15y
Phenotype/Onset	unknown
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