Expanding the clinical spectrum and management of traboulsi syndrome: report on two siblings homozygous for a novel pathogenic variant in < em > ASPH < /em >

Conclusions: We expanded the genetic spectrum of Traboulsi syndrome with a novel frameshift variant in the ASPH gene. We showed that lensectomy followed by gas-permeable contact lenses is an efficient therapeutic approach to treat lens subluxation in Traboulsi syndrome. However, lifelong follow-up is crucial to avoid (late) postoperative complications.PMID:34018898 | DOI:10.1080/13816810.2021.1923039

Source: Ophthalmic Genetics - May 21, 2021 Category: Opthalmology Authors: Tom Van Hoorde Fanny Nerinckx Elke Kreps Dimitri Roels Philippe Huyghe Mattias Van Heetvelde Hannah Verdin Elfride De Baere Irina Balikova Bart P Leroy Source Type: research