Phenotype #0000057107

Individual ID	00077332
Associated disease	STGD1
Phenotype details	Stargardt disease; The patient came to our observation in 2006 with a visual acuity of 20/32 in the right eye and 20/50 in the left eye. Fundus examination demonstrated the presence of variably pigmented changes in the macula associated with flecks that extended beyond the vascular arcades (Fishman II), and an area of subretinal fibrosis associated with diffuse pigmentation in the superior juxta-papillar region of the right eye. ERG presented subnormal scotopic and photopic responses (Lois II). MP showed instable fixation in both eyes with low retinal mean sensitivity (7.4 dB in the right eye to 8.6 dB in the left eye). Finally, FA pointed out a hypofluorescent central area corresponding to macular atrophy and hypofluorescent areas corresponding to flecks. After 3 years, a new ophthalmological examination showed small atrophic areas, some with pigment, localized in the temporal sector of the left eye. In 2012, these lesions have become areas of subretinal fibrosis localized in an inferior-temporal sector of the midperipheral retina. Visual acuity has gradually reduced. At present, BCVA is 20/200 in both eyes.
Diagnosis/Initial	-
Inheritance	Unknown
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	11y
Phenotype/Onset	unknown
Protein	-
Owner name	Stéphanie Cornelis
Database submission license
Created by	Stéphanie Cornelis
Date created	2016-02-22 12:22:09 +01:00 (CET)
Date last edited	N/A