Abstract
Purpose :
Inherited retinal diseases (IRD) are associated with genetically heterogeneous mutations that can result in damage to the retina. The first gene therapy in humans became commercially available for an IRD in 2017. Since then, several clinical trials were started to treat other IRDs. Genetic testing became more essential and affordable when managing IRDs. The purpose of this study is to identify the prevalent IRDs and their genotypes in our regional tertiary referral center.
Methods :
A retrospective chart review of patients with suspected IRD was conducted. The study included patient from August 2019 to November 2022. Inclusion criteria required patients to have genetic panel results. The genetic panel used screens for 325 genes and is commercially available for free. Genetic samples were collected either by buccal swab, saliva, or blood sample. Data collections included age, gender, and IRD genetic mutation results. The study was approved by our institutional review board.
Results :
A total of 37 patients were included in the study, with a mean age of 49.3 + 5.912 years old. Of the 37 patients, 18 (48.6%) were female and 19 (51.3%) were male. ABCA4 gene mutations were the most common in this cohort (n=13, 35.1%) with a pathogenic variant identified in 12 (92.3%) of those patients. USH2A gene mutations were the second most prevalent, found in 6 patients (16.2%) with a pathogenic variant identified in 4 (66.7%) of those patients. Additional identified gene mutations included PCARE (n=5), of which 1 pathogenic variant was identified (20%), as well as RP1 (n=2) and GUCA1A (n=1
Conclusions :
ABCA4 mutations were the most identified in our cohort, followed by USH2A mutations. This study helped further identify and stratify the genotype variability of IRD in our regional center. This study may serve as a foundation of further gene therapy trials and continued evaluation regional IRD epidemiology.
This abstract was presented at the 2023 ARVO Annual Meeting, held in New Orleans, LA, April 23-27, 2023.