Fundamentals of the Diagnosis and Management of Inherited Retinal Diseases.

Inherited retinal diseases (IRDs) represent a highly heterogenous group of genetic disorders. Although individually rare, they collectively represent a major cause of vision impairment. Many of these diseases are typically characterized by progressive dysfunction, including the loss of photoreceptors and retinal pigment epithelium (RPE), ultimately leading to severe vision impairment or blindness. IRDs are reported to be the leading cause of low vision certification amongst the working-age population in several countries.

A diverse panel of experts was interviewed to share their unique insights and perspectives on IRDs. These discussions covered various topics, including the challenges faced by patients with IRDs, the complexities associated with diagnosing these conditions, and strategies for managing patients in the absence of effective treatments, with the notable exception of RPE65-IRD. The panel was comprised of Dr. Bart Leroy, chair of the EURETINA IRD and paediatric retina subspecialty section; ophthalmologists and retina specialists Dr. Philipp Herrmann and Dr. Omar Mahroo; genetic counselor Hannah L. Scanga; and patient advocate Avril Daly.

Bart Leroy, MD, PhD; Philipp Herrmann, MD, PhD, FEBO; Omar Mahroo, MA, MB, BChir, PhD, FRCOphth; Hannah L. Scanga, MS, LCGC; and Avril Daly

September 2024 Supplement | Fundamentals of the Diagnosis and Management of Inherited Retinal Diseases