期刊
JOURNAL OF CLINICAL MEDICINE
卷 12, 期 4, 页码 -出版社
MDPI
DOI: 10.3390/jcm12041430
关键词
electrophysiology; macular dystrophies; Stargardt disease; bestrophinopathies; X-linked retinoschisis; Sorsby fundus dystrophy; Doyne honeycomb retina dystrophy; occult macular dystrophy; North Carolina macular dystrophy; pattern dystrophy; central areolar choroidal dystrophy
Macular dystrophies are a group of genetic disorders that seriously threaten bilateral central vision. Despite advances in molecular genetics, there is still significant phenotypical variation among patients. Electrophysiological testing is important for differential diagnosis, understanding pathophysiology, monitoring treatment effect, and potentially advancing therapy. This review summarizes the application of electrophysiological testing in various macular dystrophies.
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.
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