Zhang K, Nguyen T H, Crandall A, Donoso L A
Henry and Corinne Bower Laboratory for Macular Degeneration, Wills Eye Hospital, Philadelphia, Pennsylvania, USA.
Surv Ophthalmol. 1995 Jul-Aug;40(1):51-61. doi: 10.1016/s0039-6257(95)80047-6.
Macular degeneration is a heterogeneous group of disorders characterized by progressive central visual loss and degeneration of the macula and underlying retinal pigment epithelium (RPE) of the eye. Age-related macular degeneration (ARMD), the most common form of the disease, is the leading cause of legal blindness in the elderly population in the United States and in the many developed countries throughout the world. Despite its prevalence, its etiology and pathogenesis are poorly understood, and effective treatment options are limited for most patients. Inherited macular dystrophies share many important features with ARMD but are more readily studied by molecular genetic approaches. Over the past few years, significant progress has been made in the molecular genetics of inherited macular dystrophies. Genes responsible for dominant and recessive Stargardt's macular dystrophy as well as Best's disease have been localized to specific chromosomal regions. The peripherin/RDS gene when defective is associated with butterfly-shaped pattern dystrophy. Molecular studies of genes involved in macular dystrophies may yield insights into the mechanisms of pathogenesis of macular degeneration and provide new rationale for the management and treatment of patients with these diseases.
黄斑变性是一组异质性疾病，其特征为进行性中心视力丧失以及眼黄斑和视网膜色素上皮（RPE）的变性。年龄相关性黄斑变性（ARMD）是该疾病最常见的形式，是美国及全球许多发达国家老年人群法定失明的主要原因。尽管其患病率很高，但其病因和发病机制仍知之甚少，大多数患者的有效治疗选择也很有限。遗传性黄斑营养不良与ARMD有许多重要特征相同，但通过分子遗传学方法更容易进行研究。在过去几年中，遗传性黄斑营养不良的分子遗传学取得了重大进展。导致显性和隐性Stargardt黄斑营养不良以及Best病的基因已定位到特定的染色体区域。外周蛋白/RDS基因有缺陷时与蝶形图案营养不良有关。对参与黄斑营养不良的基因进行分子研究可能会深入了解黄斑变性的发病机制，并为这些疾病患者的管理和治疗提供新的理论依据。
