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Congenital Megalocornea, Microspherophakia, and Lens Subluxation Leading to Secondary Glaucoma in an Infant: A Case of Suspected LTBP2 Mutation

Year: 2025
Type: article
Study design: Case Report
Abstract: We report the case of a 6-month-old infant with congenital megalocornea, microspherophakia, and bilateral lens subluxation, leading to secondary glaucoma. Genetic context included consanguinity, suggesting an LTBP2-related condition. The patient underwent bilateral lensectomy with anterior vitrectomy, combined with trabeculectomy and peripheral iridectomy in the right eye. Postoperative intraocular pressure normalized in both eyes. This rare entity should be distinguished from primary congenital glaucoma, as the surgical approach differs. Regular intraocular pressure monitoring is essential in children with megalocornea and lens anomalies to ensure early detection and treatment of secondary glaucoma.
Language: English
Subfield: Genetics
Open Access status: hybrid
OpenAlex ID: W4412035844
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