Bilateral penetrating corneal transplantation in a patient with keratoconus and Stormorken Syndrome: a clinical case

Introduction. Keratoconus is a progressive corneal disease that results in thinning, curvature change, and refractive alterations, significantly impairing. visual acuity, even to the point of light perception. In advance stages, corneal transplantation may be necessary. Purpose. This publication aims to analyze a clinical case of corneal transplantation in a patient with keratoconus and Stormorken Syndrome, a rare genetic disorder caused by mutations in the STIM1 gene leading to calcium channelopathies. Case description. Patient Z., a 24-year-old male diagnosed with Stormorken Syndrome in childhood, was referred to the Moscow City Ophthalmological Centre. Comprehensive evaluations, including biomicroscopy, keratopachimetry, and ultrasound eye examination, confirmed keratoconus in both eyes. The patient underwent bilaterial penetrating keratoplasty due to disease progression. Postoperatively, visual acuity was 0.8 in the right eye, and 0.7 in the left eye. Additional clinical observations including bilateral myositis (resistant to medication), hypoinflammation, thrombocytopenia, dyslexia, and proximal muscles weakness, of the consistent with Stormorken Syndrome. Genetical testing confirmed a pathogenic STMI1 mutation. Conclusion. Despite the high volume of keratoplasty procedures at our clinic, this case is noteworthy. The currrent literature lacks reports on penetrating keratoplasty using native donor material in patients with Stormorken Syndrome, highlighting the uniqueness of this case.

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