Ophthalmological manifestation of the Klippel Trenaunay Syndrome

Abstract

The Klippel-Trenaunay Syndrome (KTS) is a rare congenital disease, which the prevalence is higher in males, and its incidence of 2-5:100,000. It is presented in its classic form as the triad of port-wine stains, enlarged limbs and venous and / or lymphatic malformation. The diagnosis is essentially clinical and due to the complexity of the syndrome, the progressive characteristic and the wide variety of clinical presentations, a multidisciplinary team should treat patients individually. The ocular changes associated with KTS include vascular, orbit, iris, retina, choroid and optic nerve abnormalities. Case report: A 23-year-old female patient, carrier KTS, being followed at Vision Center -Federal University of Paraná, complaining of decreased visual acuity in the right eye. The patient had port-wine stains in right hemibody and hypertrophy of ipsilateral members. Glaucoma was diagnosed and eye exams were performed to assess the degree of impairment of visual fields and fundus. The best correction was checked at 20/100 OD and 20/20 OS. At fundoscopy, there was increased excavation of the optic nerve right -0.75 x 0.90 mm. Clinical treatment was chosen with Dorzolamide Hydrochloride, Latanoprost, Brimonidine and Timolol, presenting good long-term results -the tonometry showed 19 mmHg OD and 15 mmHg OS, despite the difficulty in stabilizing the disease. Conclusion: Reports have shown that the results of clinical and surgical treatments of glaucoma in association with KTS are unsatisfactory compared to other types of glaucoma -clinical control is not possible in about 1/ 3 of patients and the surgical management has a high rate of complications. Significant studies are needed to establish the correlation between glaucoma and KTS, and base the treatment of choice. Júnior C A M , N eto C A M , A m adeu N T , G hem M R D R ev B ras O ftalm ol. 2016; 75 (5): 405-8