Phenotype #0000260252

Individual ID	00364914
Associated disease	-
Phenotype details	A 31-year-old man presented to our clinic with a history of bilateral reduced vision since the age of 22 years. At examination, best-corrected Snellen visual acuity was 20/200 in both eyes. Results of anterior segment examination and intraocular pressure were within normal limits. Funduscopy and red-free photography showed bilateral central macular atrophy and numerous yellow flecks in the posterior pole. Fluorescein angiography revealed a central region of hyperfluorescence surrounded by diffuse “dark choroids”. Optical coherence tomography showed reduced central macular thickness in both eyes, and electroretinographic response was within normal limits.
Diagnosis/Initial	Stargardt disease
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	STGD1
Age/Examination	-
Age/Diagnosis	-
Age/Onset	22y
Phenotype/Onset	bilateral reduced vision
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