A rare co-occurrence of keratoconus and tuberous sclerosis complex in a young female: A case report and literature review
Year: 2025
Type: article
Abstract: Tuberous sclerosis is a rare genetic disorder with various ocular manifestations. Its association with keratoconus is extremely uncommon. An 18-year-old female presented with uncorrected visual acuity of counting fingers at 4 meters. Examination revealed high myopia with corneal signs of keratoconus, confirmed by corneal topography. Fundus evaluation showed multiple retinal hamartomas. She had a history of long-standing seizures, and systemic examination revealed facial angiofibromas. A neurologist confirmed the diagnosis of tuberous sclerosis. The rare coexistence of keratoconus and tuberous sclerosis highlights the importance of recognizing atypical ocular features in systemic conditions. The patient underwent corneal collagen cross-linking (CXL) in both eyes. Following CXL, uncorrected visual acuity improved to 6/60 and best-corrected visual acuity to 6/9 in both eyes. This case emphasizes the value of integrated ophthalmic and systemic evaluation in identifying rare associations and guiding effective treatment.
Authors: Suvarna C Sugali, Shreesha K Kodavoor, Gopinathan, Ramamurthy Dandapani
Language: English
Subfield: Radiology, Nuclear Medicine and Imaging
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W7091673151