Summary
Retinal dystrophies represent a genetically heterogeneous group of disorders requiring comprehensive molecular evaluation to support diagnosis, management, and eligibility for therapeutic trials. In order to provide a comprehensive assessment, the genetic testing strategy needs to consider sequence variants as well as copy number variants (CNV). In a cohort of 2,754 patients analyzed using a next-generation sequencing panel optimized for copy number variant (CNV) detection, CNVs were identified in 128 individuals (4.6%). CNVs were most common in autosomal recessive genes (70.2%), followed by autosomal dominant (18.1%) and Xlinked genes (11.7%). The CNVs included partial gene deletions (71.1%), whole-gene deletions (13.3%), exon-level deletions, and a smaller number of duplications and gains.
These findings underscore the significant contribution of CNVs to retinal dystrophy etiology and highlight the clinical importance of high-resolution CNV detection in genetic diagnostic workflows.
Authors:
Lucia Guidugli, Allison Sluyters, Miika Mehine, Sari Tuupanen, Kati Kampjarvi, Inka Saarinen, Juha W Koskenvuo, Tero-Pekka Alastalo