Inherited retinal diseases, sometimes called inherited retinal degenerations, inherited retinal dystrophies or IRDs are a group of genetic ophthalmic diseases caused by rare mutations in over 300 genes (Wright et al. 2010) and are characterized by visual impairment. IRDs represent the leading cause of severe vision loss in persons between 15 and 45 years of age with an estimated incidence of 1 in every 2,000 people (Cideciyan et al. 2019; Cremers et al. 2018).
IRDs are highly heterogeneous and differ in many characteristics such as the onset of disease, varying from birth to adulthood; the rate of disease progression; the extent of visual impairment, and the involvement of other organ systems.
In 2016, the American Academy of Ophthalmology, in collaboration with IRD experts, published recommendations on clinical assessment of patients with IRDs. To know more about clinical diagnosis, genetic diagnosis and information to educate your patients, please follow this link to AAO recommendations.