Peripheral Ischemic Retinopathy in Adams-Oliver Syndrome

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.

A full-term girl was delivered at 40 weeks' gestation to a healthy, nonconsanguineous couple. Prenatal ultrasonography detected lower limb deformities. Weight, length, and head circumference at birth were between the 25th and 50th percentiles. Aplasia cutis congenita with a large scalp and skull defects in the vertex area together with upper and lower limb reduction defects were noted. Widespread cutis marmorata was also observed (Figure 1). Complete systemic examination disclosed a mild ventricular septal defect that spontaneously closed within the first 2 weeks of life.

Ocular examination of the right eye disclosed prominent iris vessels and posterior retinal arterial narrowing and venous dilatation with combined (arterial and venous) blood column segmentation (“boxcarring” appearance). Peripheral avascular retina with capillary dropout, arteriovenous anastomosis, and telangiectasia on the temporal side were noted. The left eye was slightly microphthalmic, with microcornea, a leukoma, and temporosuperior scleralization (Figure 2). Detailed left funduscopy was not possible because of media opacity. The patient's parents were thoroughly informed about management options, and it was decided that peripheral retinal laser ablation would be performed in the right eye and conservative management would be implemented in the left eye. Two weeks after photocoagulation, microvascular anomalies in the right eye had regressed.

The exposed dura was covered with artificial dermis on the seventh day of life to prevent hemorrhage and infection. Postoperative complications included septicemia and repeated longitudinal sinus bleeding despite abdominal muscle fascia grafting. The patient died of disruption of the leptomeningeal membrane and brain herniation on the 87th day of life (Figure 1). The patient's parents declined an autopsy.

Anomalies related to AOS are thought to result from genetically decreased stability of embryonic blood vessels³ and/or abnormal endothelial regulation,⁴ which compromise the vascular status in the form of reduced perfusion and ischemia.

Abnormal pericytal recruitment or coverage of the vasculature was demonstrated in the pathologic examination of a patient with AOS and pulmonary hypertension. Interestingly, the ocular pathology of this patient revealed incomplete retinal vascularization with gliosis and intravitreal neovascularization.⁵ The funduscopic findings of our patient together with this previous pathologic data may support an ischemic-proliferative retinal process in this syndrome.

Peripheral retinal ischemia in children may appear in a fully vascularized retina or in a primarily immature, avascular retina. The terminal nature of the retinal circulation makes the peripheral retina susceptible to small-vessel disease and ischemic conditions. The features of the retinopathy of our patient mimic the clinical findings of the primary immaturity or retinal vascular maldevelopment of infants with retinopathy of prematurity, familial exudative vitreoretinopathy, or Norrie disease.

The ocular findings suggestive of Peters anomaly and persistent fetal vasculature in the left eye of this patient may not have been coincidental because abnormalities in cellular apoptosis and migration may occur in this syndrome.⁶

In conclusion, we have described previously unreported retinal findings consistent with an ischemic-proliferative retinopathy. These findings strengthen the small-vessel vasculopathy hypothesis in AOS. Ophthalmic examination and funduscopy in children with AOS are warranted. Retinal ablation to arrest the potential evolution from ischemia to neovascularization, further glial organization, and retinal detachment should be considered.

Correspondence: Dr Pastora, Department of Ophthalmology, Hospital Universitario La Paz, Paseo de la Castellana 261, 28046 Madrid, Spain (ntl.pastora@gmail.com).

Author Contributions: Dr Pastora had full access to all of the data in the study and takes responsibility for the integrity of the data and the accuracy of the data analysis.