{"title":"North Carolina Macular Dystrophy.","authors":"Amber Diaz, Kristina J Hartung, Kent Small","doi":"10.1007/978-3-031-72230-1_21","DOIUrl":null,"url":null,"abstract":"<p><p>North Carolina Macular Dystrophy (NCMD) is an autosomal dominant, congenital, completely penetrant non-progressive macular malformation. The NCMD phenotype is highly variable even within the same family (Fig. 21.1). Grade 1 individuals have few drusen centrally while grade 2 can appear with confluent drusen to central vitelliform lesions. Grade 3 appears as dramatic choroidal excavations and coloboma like lesions (Small 1989; Small et al. 1991, 2022a). There can be some vision decline secondary to the development of choroidal neovascular membranes (CNVMs) (Bakall et al. 2018). Patients who develop CNVMs are the subjects who experience progressive moderate to severe vision impairment, typically confined to one eye. In grade 3 lesions, the CNVMs and resulting fibrosis typically occur along the temporal edge of the \"coloboma\" and do not affect the visual acuity. Peripheral drusen are variably reported.</p>","PeriodicalId":7270,"journal":{"name":"Advances in experimental medicine and biology","volume":"1467 ","pages":"115-117"},"PeriodicalIF":0.0000,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Advances in experimental medicine and biology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1007/978-3-031-72230-1_21","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"Biochemistry, Genetics and Molecular Biology","Score":null,"Total":0}
引用次数: 0
Abstract
North Carolina Macular Dystrophy (NCMD) is an autosomal dominant, congenital, completely penetrant non-progressive macular malformation. The NCMD phenotype is highly variable even within the same family (Fig. 21.1). Grade 1 individuals have few drusen centrally while grade 2 can appear with confluent drusen to central vitelliform lesions. Grade 3 appears as dramatic choroidal excavations and coloboma like lesions (Small 1989; Small et al. 1991, 2022a). There can be some vision decline secondary to the development of choroidal neovascular membranes (CNVMs) (Bakall et al. 2018). Patients who develop CNVMs are the subjects who experience progressive moderate to severe vision impairment, typically confined to one eye. In grade 3 lesions, the CNVMs and resulting fibrosis typically occur along the temporal edge of the "coloboma" and do not affect the visual acuity. Peripheral drusen are variably reported.
北卡罗莱纳黄斑营养不良症（nmd）是一种常染色体显性遗传病，先天性，完全渗透的非进行性黄斑畸形。即使在同一家族中，nmd表型也是高度可变的（图21.1）。1级患者很少出现中央性结节，而2级患者可出现中央性结节病变。3级表现为明显的脉络膜挖掘和结肠瘤样病变(Small 1989；Small et al. 1991,2022a)。脉络膜新生血管膜（CNVMs）的发展可能会导致一些视力下降（Bakall et al. 2018）。发生cnvm的患者是经历进行性中度至重度视力损害的受试者，通常局限于一只眼睛。在3级病变中，cnvm和由此产生的纤维化通常发生在“结肠瘤”的颞缘，不影响视力。外周病例的报告各不相同。
期刊介绍：
Advances in Experimental Medicine and Biology provides a platform for scientific contributions in the main disciplines of the biomedicine and the life sciences. This series publishes thematic volumes on contemporary research in the areas of microbiology, immunology, neurosciences, biochemistry, biomedical engineering, genetics, physiology, and cancer research. Covering emerging topics and techniques in basic and clinical science, it brings together clinicians and researchers from various fields.
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