Abstract
PURPOSE: To describe an infant with Adams Oliver syndrome (AOS) with ocular signs similar to familial exudative vitreoretinopathy. OBSERVATIONS: A full-term female infant presented with a congenital scalp defect, hypoplasia of the fingers and toes along with a radial retinal fold in the right eye and tractional retinal detachment in the left eye. Fluorescein angiography findings included peripheral retinal nonperfusion, irregular vascular sprouting beyond the vascular-avascular junction, pinpoint areas of hyperfluorescence as well as late peripheral and posterior vascular leakage. The patient was clinically diagnosed with Adams Oliver syndrome based on the collective findings. Laser photocoagulation to the avascular retina was performed in both eyes which resulted in stabilization of the condition after 2 years of follow up. CONCLUSION AND IMPORTANCE: The ocular phenotype in AOS may be similar to familial exudative vitreoretinopathy. Therefore, suspicion of the diagnosis should prompt ophthalmic evaluation including fluorescein angiography to detect and possibly treat the ischemic retinopathy.