INHERITANCE OF ENDOTHELIAL DYSTROPHY OF THE CORNEA
INHERITANCE OF ENDOTHELIAL DYSTROPHY OF THE CORNEA
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DOI：
10.1159/000309068
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发表时间：
1980-01-01
期刊：
影响因子：
2.6
通讯作者：
YOUNG, CW
中科院分区：
文献类型：
--
作者：
KRACHMER, JH;BUCHER, KD;YOUNG, CW
对包含患有角膜内皮营养不良的先证者的家庭（64）进行了检查，以研究该疾病的遗传性质。有关发病频率、疾病严重程度、受影响女性与男性的比例、疾病与年龄的关系以及其他因素的数据是先前报告的主题。介绍了 64 个家系中反映内皮营养不良特征的 7 个谱系。这些特征包括家庭中多名女性受到影响、多代连续受影响、后代的疾病比父母更严重，以及在相对年轻的时候（< 40 岁）出现内皮失代偿（水肿）。强调了尽可能检查家庭成员而不是仅仅依赖病史的重要性。对遗传模式进行了统计分析。内皮营养不良似乎并不遵循严格的常染色体显性遗传模式，尽管表面检查表明存在常染色体显性遗传（男性和女性均受影响，连续几代均受影响，40 岁以上亲属中有 38% 受影响）。尽管不可能确定这 64 个内皮营养不良家族的特定遗传模式，但内皮营养不良可能至少部分是一种遗传性疾病。未来的研究可能会证明性别相关的优势、遗传异质性、环境因素或多因素病因的影响。
Families (64) containing a proband with corneal endothelial dystrophy were examined to study the hereditary nature of the disease. Data concerning the frequency of occurrence, severity of the disease, ratio of affected females to males, relationship of the disease with age, and other factors were the subject of a previous report. Seven pedigrees which reflect features of endothelial dystrophy within the 64 families are presented. These features include multiple females in a family being affected, multiple consecutively affected generations, the occurrence of offspring with disease more severe than the parent, and endothelial decompensation (edema) at a relatively young age (< 40 yr of age). The importance of examining family members whenever possible rather than relying on history alone is emphasized. A statistical analysis of the inheritance pattern was performed. Endothelial dystrophy does not seem to follow a strict autosomal dominant pattern even though superficial inspection suggests autosomal dominant inheritance (both males and females affected, successive generations affected, 38% of relatives over the age of 40 yr affected). Even though it was not possible to determine a specific genetic mode of inheritance in these 64 families with endothelial dystrophy, endothelial dystrophy is probably at least in part an inherited disease. Future investigations might prove sex-linked dominance, genetic heterogeneity, the influence of environmental factors or a multifactorial etiology.