Molecular genetic diagnostics for inherited retinal dystrophies in the clinical setting

CONCLUSIONS: This study represents the largest review of molecular genetic testing in IRDs in Canada. That negative or inconclusive results obtained in approximately 45% of cases demonstrates that there is an important need for new research into molecular genetic causes of IRDs This is particularly true in addressing the problem of interpreting a variant of uncertain significance in ethnic minorities.PMID:37678418 | DOI:10.1016/j.jcjo.2023.08.006

Source: Canadian Journal of Ophthalmology - September 7, 2023 Category: Opthalmology Authors: Olubayo U Kolawole Albert Huang Cheryl Y Gregory-Evans Maheshver Shunmugam Travers Weaver Kevin Gregory-Evans Source Type: research