Atypical Retinal Manifestations in a Patient with Tuberous Sclerosis
Keywords:
Tuberous sclerosis, Retinography, Optical coherence tomographyAbstract
Introduction: tuberous sclerosis is a rare genetic disease with multisystemic manifestations, including retinal lesions. Hypodense spots and drusen are findings rarely described in the literature.
Objectives: to present a case of tuberous sclerosis with atypical retinal alterations in order to contribute to the knowledge of its ophthalmological manifestations.
Case Presentation: a 25-year-old female patient with tuberous sclerosis (TSC2 mutation) diagnosed at the age of 10, with a history of controlled epilepsy and renal angiomyolipomas. She attended a routine ophthalmological consultation asymptomatically. Visual acuity was 20/20, color vision was normal, and intraocular pressure was within physiological ranges. Fundus examination revealed multiple peripapillary hypodense spots and peripheral drusen. Optical coherence tomography confirmed foveal integrity, with localized retinal thickening in lesion areas without clinically significant macular edema. This confirmed the diagnosis of tuberous sclerosis with atypical retinal manifestations, with annual follow-up adopted as management, without specific treatment due to the absence of visual impairment.
Conclusions: tuberous sclerosis may present atypical retinal manifestations such as hypodense spots and drusen, suggesting involvement of the retinal pigment epithelium linked to the mTOR pathway. This first report in Pinar del Río highlights the importance of structural ophthalmological follow-up even in asymptomatic patients.
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Copyright (c) 2025 Yunaisy Barrera Villar, Nayaris Gómez Martínez, Nairovys Gómez Martínez, Raul Socarras Llabona
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