Unilateral Cataract and Vitreoretinopathy in a Case with Klippel-Trenaunay Syndrome

Abstract

Purpose. We present a case with Klippel-Trenaunay (KT) syndrome that had unilateral mature cataract and vitreoretinopathy. Case Report. A 17-year-old boy with KT syndrome presented to the clinic of ophthalmology for low vision in the right eye. His best corrected visual acuity (BCVA) was hand motion in the right eye and 20/20 in the left eye. Anterior segment examination revealed mature cataract in the right. During the physical examination, port-wine stains were noted over right side of his face, ankle, and toes. He had asymmetric face and his head was larger on the right side. Leg lengths were symmetrical, although he had skin hypertrophy. Cranial magnetic resonance imaging studies showed cortical atrophy discordant to his age, asymmetric vascular dilatations in the right hemisphere, hypertrophy in the right periorbital soft tissue, and choroidal plexus. The patient received an uncomplicated cataract surgery. His BCVA in the right eye improved to 20/200 after the surgery. After removing cataractous lens, we were able to examine the fundus that revealed severe vitreoretinopathy and choroidal hemangioma. Conclusion. This case emphasizes the importance of prompt ophthalmic examination in patients with KT syndrome.

Easily misdiagnosed complex Klippel-Trenaunay syndrome: A case report

“…The most common symptoms of KTS are swelling and pain in the extremity, accompanied by obvious heaviness caused by venous disfunction and abnormal lymphatic drainage[ 20 , 21 ]. Other atypical manifestations include infectious cellulitis, extremity ulcer, headache, intracerebral hemorrhage, hydrocephalus, seizures[ 14 , 22 , 23 ], and even poor vision when the eyes are involved[ 24 ]. In addition, other rare complications, such as deep venous thrombosis, venous thromboembolism, pulmonary embolism, thrombophlebitis, and gangrene, may occur in the patients[ 25 ].…”

Ophthalmic Alterations in the Sturge-Weber Syndrome, Klippel-Trenaunay Syndrome, and the Phakomatosis Pigmentovascularis: An Independent Group of Conditions?

“…Other ophthalmic alterations have been reported in case studies and consist in: conjunctival telangiectasia, orbital varix, strabismus, oculosympathetic palsy, Marcus-Gunn pupil, iris coloboma and heterocromia, cataracts, persistent fetal vasculature, chiasmal and bilateral optic nerve gliomas, drusen of the optic disk, acquired myelination of the retinal nerve fiber layer, and retinal dysplasia with astrocytic proliferation of the nerve [ 91 – 97 ]. Retinal varicosities have been described and dilated retinal veins have been demonstrated with fluorescein angiography [ 98 ].…”

Klippel Treunanay Syndrome in differential diagnosis of cerebral palsy

“…Frequent complications of KTS related to the anomalous veins include symptomatic venous engorgement, superficial thrombophlebitis, venous thrombosis and pulmonary thromboembolism (8) . Opthalmologic findings such as unilateral mature cataract and vitreoretinopathy are reported in the literature and ophthalmic examination is necessary in patients with KTS (9) . KTS should be differentiated from Parkes-Weber Syndrome which is characterised by a high flow arteriovenous malformation together with limb hypertro-phy and capillary malformations (4) .…”