Description

The diagnosis of adFEVR is based on a family history compatible with autosomal dominant inheritance and bilateral peripheral retinal avascularity, seen temporally, by indirect ophthalmoscope and scleral indentation, or by fundus fluorescein angiography.1) Molecular genetic testing should begin with sequence analysis of FZD4. 2) If a pathogenic variant is not identified, sequence analysis of LRP5 should be performed. 3) If a pathogenic variant is not identified, sequence analysis of TSPAN12 should be performed. 4) Because not all genes associated with adFEVR are known, failure to identify a pathogenic variant in FZD4, LRP5 or TSPAN12 does not rule out the diagnosis.