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LEPREL1 -RELATED GIANT RETINAL TEAR DETACHMENTS MIMIC THE PHENOTYPE OF OCULAR STICKLER SYNDROME.

Retina (Philadelphia, Pa.) - 1 Mar 2023

Magliyah Moustafa S, Almarek Faisal, Nowilaty Sawsan R, Al-Abdi Lama, Alkuraya Fowzan S, Alowain Mohammed, Schatz Patrik, Alfaadhel Talal, Khan Arif O, Alsulaiman Sulaiman M

Abstract excerpt

PURPOSE: To describe the features of retinal detachments and high myopia in patients with novel pathogenic variants in LEPREL1 and report a possible association with nephropathy. METHODS: Retrospective study of 10 children with biallelic LEPREL1 pathogenic variants. Data included ophthalmic features, surgical interventions, and genetic and laboratory findings. RESULTS: 10 patients (8 females) from three families...

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PMID: 36729830
DOI: 10.1097/IAE.0000000000003691

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