Phenotype #0000057802

Individual ID	00078027
Associated disease	?
Diagnosis/Initial	-
Diagnosis/Definite	-
Phenotype details	Bulls-eye maculopathy; Stargardt disease; y25, OD: visual acuity 20/100, An apparent thinning of the outer nuclear layer (ONL) of the macula was present. However, a relative sparing of laminar structure was noted. Distinctive structural breaks in the EZ band and degradation of photoreceptors in the foveal outer retina were observed on SD-OCT. Photoreceptor debris and remnants of the ellipsoid were present in the gap while the RPE and external limiting membrane were intact, OS: visual acuity 20/150, A widened empty cavity characterized by a total absence of the EZ band was observed across the fovea on SD-OCT in some patients. Some granular deposits of residual debris were visibly attached to the concavely arched ELM of the lesion. The increased reflectivity of the ELM above the cavitation was seen in some cases. A relatively larger, horizontally-elongated lesion resembling an elliptical bull’s eye lesion within a hyperautofluorescent halo was observed on AF imaging in some patients.
Inheritance	Unknown
Age/Examination	-
Age/Diagnosis	-
Age/Onset	15y
Phenotype/Onset	unknown
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
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