Publications
ThesisJan 2023

Retinitis pigmentosa hastalarının yeni nesil dizileme analizi ile göz ve klinik bulgularının değerlendirilmesi

Erdem, D
Product Used
NGS
Abstract
Objective: The aim of this study is to determine the mutations involved in the development of retinitis pigmentosa (RP) in patients from all regions of Turkey who presented to our clinic, using next-generation sequencing (NGS) and to investigate the clinical implications of these mutations. Materials and Methods: Anamnesis and examination data of 118 patients diagnosed with RP by detailed fundus examination and peripheral blood mutation analysis using NGS were retrospectively analyzed. Information on the patients history, personal and family background was recorded. Pathogenic, likely pathogenic, and variants of uncertain significance (VUS) that explain the clinical findings were determined according to The American College of Medical Genetics and Genomics (ACMG, 2015) criteria by screening databases. Best-corrected visual acuity (BCVA), biomicroscopic examination, detailed fundus examination, and intraocular pressure (IOP) measurements were recorded. Detailed optical coherence tomography (OCT), Enhanced Depth Imaging-OCT (EDI-OCT), retinal nerve fiber layer (RNFL) imaging, and if available, electroretinogram (ERG) findings were examined and macular, choroidal, nerve fiber layer thickness, presence of epiretinal membrane (ERM) and cystoid macular edema (CME), ellipsoid zone (EZ) length were recorded. Results: The average age of the patients (aged 3-77) was 35, with 60 males and 58 females. A total of 84 mutations causing the disease in 48 genes were identified with a diagnostic rate of 79.6%. Sixteen of these mutations were novel variants. The two most common genes were MYO7A and CDHR1. Sixty-one of the identified variants were homozygous, 19 were heterozygous, 10 were compound heterozygous, and four were hemizygous inheritance. According to the ACMG criteria, 37 of the 84 variants (44%) were pathogenic, 21 (25%) were likely pathogenic, and 26 (31%) were VUS. Thirty-seven patients had syndromic forms accompanying RP. It was found that BCVA showed significant difference between those with and without macular involvement (P
Product Used
NGS

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