INHERITED RETINAL DISEASE GENE PANEL IN POSTERIOR OR PANUVEITIS WITH DYSTROPHIC FEATURES.

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Tác giả: Stéphane Abramowicz, Laure Caspers, Elfride De Baere, Marieke De Bruyne, Dafina Draganova, Bart P Leroy, Audrey Meunier, Laurence Postelmans, Stijn Van de Sompele, François Willermain

Ngôn ngữ: eng

Ký hiệu phân loại: 296.36 Ethics

Thông tin xuất bản: United States : Retina (Philadelphia, Pa.) , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 198204

PURPOSE: To evaluate the presence of American College of Medical Genetics and Genomics class 3, 4, and 5 genetic variants in inherited retinal disease (IRD) genes in posterior or panuveitis with dystrophic features (PUD) in a Belgian cohort. METHODS: Multicentric, retrospective study of PUD cases diagnosed between January 2012 and February 2022. Inherited retinal disease gene panels were analyzed in every patient. Three PUD categories were defined as follows: idiopathic posterior or panuveitis with retinitis pigmentosa-like features (PURPL), idiopathic posterior or panuveitis with other dystrophic features (PUOD), and posterior or panuveitis with established ophthalmological or systemic etiology and dystrophic features (POSED). RESULTS: The authors included 12 patients (7 women, 5 men). The mean age at inclusion was 52.2 years (26-80 years). Three patients demonstrated class 4 or 5 variants in genes that led to a diagnostic reclassification. One patient had a class 3 variant in an X-linked IRD gene that possibly explained his phenotype. Seven patients had variants in IRD genes that could not explain their phenotype. One patient had a negative panel result. CONCLUSION: Inherited retinal disease gene panel analysis allowed diagnosis refinement in 3/12 (25%) patients in the PUD cohort, all belonging to the PURPL subgroup. The authors recommend that all patients with PURPL benefit from gene panel testing to avoid overlooking undiagnosed IRDs.
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