Phenotype #0000220803

Individual ID	00287054
Associated disease	EVR5
Phenotype details	best-corrected visual acuity (BCVA) in each eye was 20/20. Intraocular pressures were normal and there was no relative afferent pupillary defect. Slit lamp examination (SLE) was significant for LASIK flaps in each eye. Dilated funduscopic examination (DFE) was similar in both eyes and revealed crowded discs, normal maculae, and dragged and straightened posterior vessels. Peripheral retina examination revealed areas of pigment clumping with an abrupt termination of vasculature temporally; additionally, seafan-like lesions were seen in both eyes (Figure 1a,b). Ultra wide- field fluorescein angiography (UWFA) demonstrated marked temporal retinal nonperfusion with “brush-border” leakage and intense hyperfluorescence corresponding to the afore- mentioned peripheral lesions bilaterally
Diagnosis/Initial	-
Inheritance	Familial
Diagnosis/Definite	FEVR
Age/Examination	32y (32 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Dong Sun
Database submission license
Created by	Dong Sun
Date created	2020-02-11 15:33:41 +01:00 (CET)
Date last edited	2022-10-11 13:35:51 +02:00 (CEST)

Global Variome shared LOVD