Proliferative Retinopathy in a 13-Year-Old With Adams–oliver Syndrome

Abstract

Adams-Oliver syndrome is a rare, inherited disorder of embryologic development that affects multiple systems. Ocular manifestations have been poorly characterized because of the low prevalence and high mortality of the disease when it is associated with internal organ and/or ophthalmic manifestations. We present a case of Adams-Oliver syndrome in a 13-year-old patient whose multimodal retinal imaging findings helped direct management.Methods: Single patient case report reviewing medical records and imaging.Results: Visual acuity upon presentation was 20/40 in each eye. Ultra-widefield fluorescein angiography revealed peripheral nonperfusion with terminal vascular bulbs, and leakage from a temporal fibrovascular complex in the left eye. Fundus autofluorescence imaging showed hyperautofluorescence associated with optic disc drusen and the fibrovascular complex. Treatment with targeted laser photocoagulation was associated with regression of the neovascularization.Conclusion: Retinal manifestations of Adams-Oliver syndrome as observed with ultrawidefield fundus imaging may resemble those of familial exudative vitreoretinopathy and retinopathy of prematurity. Treatment of avascular retina with panretinal photocoagulation can be considered.

Atypical Adams-Oliver syndrome with typical ocular signs of familial exudative vitreoretinopathy

“…Pedigrees of the family and sanger confirmation of the identified DOCK6 variants in proband with family members are shown in Figure 3. DISCUSSION AOS was not frequently reported in patients with ocular disorders though some isolated cases had been described associated with congenital cataract and retinal findings [12][13][14][15][16][17][18] . In our case, we described a family of AOS with all the members showing retinal signs similar to FEVR and DOCK6 mutations.…”