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Research Letters |

Peripheral Ischemic Retinopathy in Adams-Oliver Syndrome

Jesus Peralta-Calvo, PhD; Natalia Pastora, MD; Yolanda G. Casa-Ventura, MD; Rafael Hernandez-Serrano, PhD; Jose Abelairas, PhD
Arch Ophthalmol. 2012;130(8):1078-1080. doi:10.1001/archophthalmol.2012.531.
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Adams-Oliver syndrome (AOS) is an inherited congenital condition defined by aplasia cutis congenita and transverse limb defects.1 Additional variable involvement of the brain, eye, skin, and cardiovascular system has led to the consideration of this syndrome as a constellation of clinical findings resulting from early embryonic vascular abnormalities.2 Herein, we report a case of AOS with previously unreported retinal findings consistent with an ischemic-proliferative retinopathy.

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Grahic Jump Location

Figure 1. Systemic anomalies in a patient with Adams-Oliver syndrome. A, Aplasia cutis congenita with scalp and skull defects in the vertex. B, Herniation of the brain and intraventricular bleeding. C, Upper terminal transverse defects and cutis marmorata. D, Lower limb reduction defects.

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Grahic Jump Location

Figure 2. Ocular findings in a patient with Adams-Oliver syndrome. A, Prominent right iris vessels. B, Left microcornea with leukoma. C, Detailed right funduscopy showing arterial (arrows) and venous (arrowheads) “boxcarring.” D, Retinal arterial narrowing (arrows) and venous dilatation (arrowheads). E, Peripheral avascular retina with arteriovenous anastomosis, telangiectasia (arrows), and venous beading (arrowheads).

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