Chiang Tsun-Kang, Yu Minzhong
Department of Ophthalmology, University Hospitals, Case Western Reserve University, Cleveland, OH 44106, USA.
J Clin Med. 2023 Feb 10;12(4):1430. doi: 10.3390/jcm12041430.
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.
黄斑营养不良是一组异质性的遗传性疾病，常常严重威胁受影响患者的双侧中心视力。虽然分子遗传学的进展有助于对这些疾病的理解和诊断，但在任何特定的黄斑营养不良亚组中，患者之间仍存在显著的表型差异。电生理检测仍然是一个至关重要的工具，不仅用于鉴别诊断以明确视力丧失情况，还用于了解这些疾病的病理生理学并监测治疗效果，这可能会带来治疗方面的进展。本综述总结了电生理检测在黄斑营养不良中的应用，包括斯塔加特病、贝斯特病、X连锁视网膜劈裂症、索斯比眼底营养不良、多伊内蜂窝状视网膜营养不良、常染色体显性遗传性玻璃膜疣、隐匿性黄斑营养不良、北卡罗来纳黄斑营养不良、图案性营养不良和中心性晕轮状脉络膜营养不良。
