ATAXIA-TELANGIECTASIA: A CLINICAL CASE OF A RARE HEREDITARY SYNDROME WITH OPHTHALMOLOGIC MANIFESTATIONS (CLINICAL CASE)

Abstract

Ataxia-telangiectasia (AT), also known as Louis-Bar syndrome, is a rare autosomal recessive disorder caused by mutations in the ATM gene. The disease is characterized by a classic triad of progressive cerebellar ataxia, immunodeficiency, and telangiectasias of the skin and conjunctiva. Ophthalmologic manifestations, particularly conjunctival telangiectasias, may be the first externally visible signs of the disease and provide an important clue for early diagnosis.

Purpose – to demonstrate ophthalmologic presentations of ataxia- telangiectasia in a child and to emphasize the diagnostic role of the ophthalmologist in the early detection and interdisciplinary management of rare inherited diseases.

We report the case of a 10-year-old girl with AT presenting with decreased vision and intermittent conjunctival redness. Examination revealed symmetrical bulbar conjunctival telangiectasias, and moderate thinning of the ganglion cell layer on optical coherence tomography (OCT), suggesting early retinal neurodegenerative changes. Genetic analysis confirmed a pathogenic ATM mutation.

This case highlights the critical role of ophthalmologists in the early recognition of AT. Conjunctival telangiectasias, when combined with neurological and immunological findings, serve as a pathognomonic and visually accessible marker. Early ophthalmologic recognition facilitates timely referral for genetic and immunologic evaluation, contributing to multidisciplinary management and improved quality of life for affected patients.