Fast Five Quiz: Inherited Retinal Diseases

Raj K. Maturi, MD


March 31, 2023

Given the broad heterogeneity of IRDs, different examinations may be used in patients with different types of IRD. For example, full-field ERG is indicated for the evaluation of macular changes in the differential diagnosis of cone or cone-rod dystrophy, per Guidelines on Clinical Assessment of Patients with Inherited Retinal Degenerations from the American Academy of Ophthalmology (AAO). However, it is not necessary in Best disease, North Carolina macular dystrophy, or in cases of pattern dystrophy limited to the macula.

Multifocal or pattern ERG testing can be useful for identifying diseases that primarily affect the macula, such as focal cone dystrophy, and to distinguish dystrophies from toxicity (such as hydroxychloroquine toxicity). Cone dystrophies often can be excluded and optic nerve disease implicated if a fully healthy multifocal ERG response is noted in certain cases.

Learn more about the clinical evaluation of IRDs.


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