Phenotype #0000057794

Individual ID	00078019
Associated disease	?
Diagnosis/Initial	-
Diagnosis/Definite	-
Phenotype details	Stargardt disease/Bulls-eye maculopathy; y22, OD: visual acuity 20/40, 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 20/50, 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; y20: localized macular lesion exhibiting a smooth contour and qualitatively normal-appearing surrounding retina without flecks and visual acuity of 0.3 OD, 0.4 OS.
Inheritance	Unknown
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
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

Global Variome shared LOVD