Phenotype #0000058008

Individual ID	00078233
Associated disease	?
Diagnosis/Initial	-
Diagnosis/Definite	-
Phenotype details	ABCA4-related retinal disease; y38.5: visual acuity OD _0.12logMAR, OS 0logMAR. Presence of central atrophy, mottling, and/or macular flecks in fundus AF (488-nm excitation) images. Patients included in this cohort were (1) those presenting with fundus features that could be observed in both confirmed ABCA4-associated disease and in patients considered to carry the PD phenotype (central lesion with jagged border, butterfly-shaped lesion in the macula); (2) patients with a phenotype having some features that were atypical for ABCA4-associated STGD1 (no peripapillary sparing; atypical size, shape, and distribution of flecks); and (3) patients in whom ABCA4 mutations were not detected despite ABCA4-like fundus features but in whom additional genetic screening revealed PRPH2/RDS mutations.
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