Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2022 Nov 1;16(6):762-765.
doi: 10.1097/ICB.0000000000001073.

PROLIFERATIVE RETINOPATHY IN A 13-YEAR-OLD WITH ADAMS-OLIVER SYNDROME

Benjamin I Meyer  1 , Parker J Williams, Adam M Hanif, Phoebe D Lenhart, G Baker Hubbard 3rd, Nieraj Jain
Affiliations
Case Reports

PROLIFERATIVE RETINOPATHY IN A 13-YEAR-OLD WITH ADAMS-OLIVER SYNDROME

Benjamin I Meyer et al. Retin Cases Brief Rep. .

Abstract

Purpose: 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 ultra-widefield fundus imaging may resemble those of familial exudative vitreoretinopathy and retinopathy of prematurity. Treatment of avascular retina with panretinal photocoagulation can be considered.

PubMed Disclaimer

References

    1. Snape KM, Ruddy D, Zenker M, et al. The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects. Am J Med Genet A 2009;149a:1860–1881.
    1. Lehman A, Wuyts W, Patel MS. Adams-Oliver syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews. Seattle, WA: University of Washington, Seattle; 1993.
    1. Hassed S, Li S, Mulvihill J, et al. Adams–Oliver syndrome review of the literature: refining the diagnostic phenotype. Am J Med Genet A 2017;173:790–800.
    1. Küster W, Lenz W, Kääriäinen H, Majewski F. Congenital scalp defects with distal limb anomalies (Adams-Oliver syndrome): report of ten cases and review of the literature. Am J Med Genet 1988;31:99–115.
    1. Peralta-Calvo J, Pastora N, Casa-Ventura YG, et al. Peripheral ischemic retinopathy in Adams-Oliver syndrome. Arch Ophthalmol 2012;130:1078–1080.

Publication types

Supplementary concepts

LinkOut - more resources