Ocular complications in Ehlers-Danlos syndrome type IV

We report the clinical and histopathologic findings in ocular and vascular tissues of a patient with Ehlers-Danlos syndrome type IV. The diagnosis was confirmed by analysis of skin fibroblasts. The patient had multiple vascular complications including recurrent, spontaneous carotid- cavernous sinus fistulas, multiple arterial dissections, and spontaneous rupture of the abdominal aorta. Ocular complications resulted from attempted repair of the carotid-cavernous sinus fistulas. Ocular, cardiac, and renal artery autopsy specimens were examined by light microscopy. The coronary artery internal elastic membrane was discontinuous. The central retinal and renal arteries were normal. Early clinical recognition of Ehlers-Danlos syndrome type IV is critical due to complications associated with arterial puncture and surgery. The diagnosis of Ehlers-Danlos syndrome type IV should be considered in young and middle-aged patients seen with spontaneous, direct carotid-cavernous sinus fistulas.