Electrophysiological Evaluation of Macular Dystrophies

Abstract

Macular dystrophies are a heterogeneous group of genetic disorders that often severely threatens the bilateral central vision of the affected patient. While advances in molecular genetics have been instrumental in the understanding and diagnosis of these disorders, there remains significant phenotypical variation among patients within any particular subset of macular dystrophies. Electrophysiological testing remains a vital tool not only to characterize vision loss for differential diagnosis but also to understand the pathophysiology of these disorders and to monitor the treatment effect, potentially leading to therapeutic advances. This review summarizes the application of electrophysiological testing in macular dystrophies, including Stargardt disease, bestrophinopathies, X-linked retinoschisis, Sorsby fundus dystrophy, Doyne honeycomb retina dystrophy, autosomal dominant drusen, occult macular dystrophy, North Carolina macular dystrophy, pattern dystrophy, and central areolar choroidal dystrophy.

How to Set Up Genetic Counselling for Inherited Macular Dystrophies: Focus on Genetic Characterization

“…Despite the advent of the aforementioned sophisticated imaging methods, electrodiagnostic tests (EDTs) are still useful for the diagnosis of inherited macular dystrophies, especially in the differential diagnosis. Electrophysiological tests, such as full-field electroretinogram (ffERG), multifocal ERG (mfERG), Pattern ERG (PERG), and electroculogram (EOG), can be utilized to analyze and diagnose visual pathway malfunctions in macular dystrophies [48]. In Stargardt patients, given the significant heterogeneity of the condition, EDTs can help in the staging of the disease severity and in the monitoring of progression [31].…”

Application of Electrophysiology in Non-Macular Inherited Retinal Dystrophies

“…We describe the clinical manifestation and genetic approach, followed by a review of the application of electrophysiological testing in the diagnosis and workup for each specific non-macular and non-choroid IRD. Inherited macular dystrophies and chorioretinal degenerations were excluded from this review, as macular IRDs were described extensively in our previous study [13] and the scope of the choroid degenerations lends itself to a separate, future review.…”