Expanding the Mutation Spectrum for Inherited Retinal Diseases

Inherited retinal diseases (IRDs) represent a diverse group of genetic disorders characterized by degeneration of the retina, leading to visual impairment and blindness. IRDs are heterogeneous, sharing common clinical features that can be difficult to diagnose without knowing the genetic basis of the disease. To improve diagnostic accuracy and advance understanding of disease mechanisms, genetic testing was performed for 103 unrelated patients with an IRD at a single clinical site between 30 August 2022 and 5 February 2024.

Informed consent was obtained before buccal samples were collected for panel-based sequencing at BluePrint Genetics (BpG), sponsored by the Foundation Fighting Blindness MyRetina Tracker program. A retina specialist performed standard visit assessments, including visual acuity (Snellen chart), slit lamp examination, fundus photography (Optos^®, Dunfermline, UK), and spectral-domain optical coherence tomography (SD-OCT; Zeiss).

From 103 patients, genetic findings were reported for 70 individuals. Among these included 20 novel variants.

These results clarify and confirm clinical diagnoses, aid in counseling patients on prognosis and family planning, and guide treatment options. This study not only holds promise for affected individuals but also expands the mutation spectrum to guide understanding of IRD.