Phenotype #0000260191

Individual ID	00364853
Associated disease	-
Phenotype details	The Stargardt patient was initially seen clinically by one of the authors (GAF) at age 31 years for the evaluation of decreased vision that had been noted since 1st grade. Visual acuity was best corrected to 20/300 in each eye. She was diagnosed as having STGD1 based upon her fundus appearance. When last seen by GAF at age 55 years, best corrected visual acuity was 20/400 in the right eye and 8/225 in the left. Goldmann visual field testing showed a large central scotoma in each eye with normal peripheral boundaries to both II4e and V4e test targets. Her corneas and lenses were clear. Ocular pressures were 13mmHg OD and 11mmHg OS. There were extensive atrophicappearing changes in the RPE and choroid within the macula with hypopigmented lesions throughout the posterior pole consistent with partially resorbed fundus flecks.
Diagnosis/Initial	Stargardt disease
Inheritance	Unknown
Diagnosis/Definite	STGD1
Age/Examination	-
Age/Diagnosis	-
Age/Onset	<8y
Phenotype/Onset	decreased 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