Phenotype #0000056011

Individual ID	00076236
Associated disease	?
Diagnosis/Initial	-
Diagnosis/Definite	-
Phenotype details	Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull's eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes
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