Adams Oliver syndrome: A mimicker of familial exudative vitreoretinopathy

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.

Keywords: Adams oliver syndrome; Aplasia cutis; Familial exudative vitreoretinopathy; Tractional retinal detachment.

Fig. 1

(A) Fundus photograph of the right eye showing a dry radial retinal fold. (B) Fundus photograph of the left eye showing a temporal proliferation causing tractional retinal detachment involving the macula. (C and D) Fluorescein angiogram of both eyes depicting peripheral nonperfusion.

Fig. 2

(A) Photograph of the scalp showing scarring, depigmentation and loss of hair in the vertex area. (B and C) Photographs of the left hand and foot demonstrating hypoplasia of the fingers and toes along with absent or dystrophic nails.