Recommendations on Clinical Assessment of Patients with Inherited Retinal Degenerations - 2022

Recommendations on Clinical Assessment of Patients with Inherited Retinal Degenerations - 2022 - American Academy of Ophthalmology

This Academy Clinical Statement provides recommendations and clinical genetic assessments of patients with inherited retinal degenerations (IRDs). Various testing procedures and the timing at which they are recommended are described for patients within 4 broad classes of IRD (rod-cone degenerations, cone-rod degenerations, chorioretinal degenerations and inherited macular dystrophies). Pediatric patients not infrequently require modified testing regimens or sedation for accurate assessment. Genetic testing and genetic counseling are essential components of the management of patients with IRDs as genetic testing may confirm the diagnosis, provide information to optimize management of the patient and family members, and potentially confirm eligibility to participate in clinical trials. For example, genetic testing is required to determine eligibility of patients for approved gene therapies such as voretigene neparvovec-rzyl for RPE65-related IRD. This document is intended to provide guidelines for the management of patients with IRDs and provides information to support and educate patients with IRD. As always, final decisions are the responsibility of the individual treating physicians and are based on the needs of individual patients.


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