NORTH-CAROLINA MACULAR DYSTROPHY AND CENTRAL AREOLAR PIGMENT EPITHELIAL DYSTROPHY - ONE FAMILY, ONE DISEASE
NORTH-CAROLINA MACULAR DYSTROPHY AND CENTRAL AREOLAR PIGMENT EPITHELIAL DYSTROPHY - ONE FAMILY, ONE DISEASE
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DOI：
10.1001/archopht.1992.01080160093040
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发表时间：
1992-04-01
影响因子：
--
通讯作者：
FOLK, JC
中科院分区：
文献类型：
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作者：
SMALL, KW;HERMSEN, V;FOLK, JC
常染色体显性黄斑营养不良称为北卡罗来纳州黄斑营养不良和中央乳晕色素上皮营养不良最初被描述为三个独立家族中的不同疾病实体。 然而，这些疾病有几个共同的表型特征。 北卡罗来纳州黄斑营养不良的单一大家庭，1790年从三个爱尔兰兄弟传下来，经历了广泛的家谱研究，扩大到2000多个家庭成员。 结果，发现先前描述的两个患有中心性乳晕色素上皮营养不良的家族是这三个患有北卡罗来纳州黄斑营养不良的爱尔兰兄弟的后代，因此也患有北卡罗来纳州黄斑营养不良。 这有助于简化疾病分类学，并将北卡罗来纳州黄斑营养不良的表型扩展到包括脉络膜新生血管膜。
The autosomal-dominant macular dystrophies known as North Carolina macular dystrophy and central areolar pigment epithelial dystrophy were originally described as distinct disease entities in three separate families. However, these disorders have several phenotypic features in common. The single large family with North Carolina macular dystrophy, which descended from three Irish brothers in 1790, has undergone extensive genealogic studies expanding the kindred to more than 2000 family members. As a result, two previously described families with central areolar pigment epithelial dystrophy have been found to descend from these same three Irish brothers with North Carolina macular dystrophy and, therefore, also have North Carolina macular dystrophy. This helps simplify the nosology of the disease and expands the phenotype of North Carolina macular dystrophy to include choroidal neovascular membranes.