Jornal de Oftalmologia Clínica e Experimental
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Klippel-Trenaunay Syndrome Ocular Manifestations: A Case Report

Renata Diniz Lemos, Ahmad Mohamad Ali Hamade, Daniel Cunha Araujo, Leangelo Nicholas Hall, Michel Berezovsky, Mauricio Abujamra Nascimento

Introduction: Klippel-Trenaunay Syndrome (KTS) is a rare congenital sporadic condition, which is clinically diagnosed by the presence of two of its classical triad features and is commonly seen at birth or early childhood. The triad is composed of cutaneous hemangiomas (port-wine-stains), varicosities, as well as bone and soft tissue hypertrophy, affecting between 2 to 5 in 100,000. Recently, KTS was found to be related to somatic mutations in the Phosphatidylinositol-4-5-biphosphate 3 Kinase Catalytic subunit (PIK3CA) gene, therefore, classified as a PIK3CA-related overgrowth spectrum. These mutations affect the embryological angiogenesis development stage. The KTS features are clinically variable, including systemic and ophthalmological signs and symptoms. Although it can affect nearly any part of the eye, the description of ophthalmological involvement is scarce in the literature.

Case presentation: This study aims to describe a case of KTS in a 30-year-old woman who was found to have retinal and conjunctival telangiectasia, increased excavation and mild retinal vascular tortuosity. The patient best-corrected visual acuity of both eyes was 20/20. The patient presented no signs of retinal or choroidal neovascularization and no evidence of glaucoma. The proper treatment required was only eyeglasses prescription and regular follow-up.

Conclusion: KTS patients must undergo an ophthalmological assessment as some conditions related to this syndrome can be vision-threatening and result in severe visual impairment if not evaluated promptly.