The familial contribution to non-syndromic ocular coloboma in south India
The familial contribution to non-syndromic ocular coloboma in south India
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DOI：
10.1136/bjo.87.3.336
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发表时间：
2003-03-01
影响因子：
4.1
通讯作者：
Gilbert, CE
中科院分区：
文献类型：
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作者：
Hornby, SJ;Dandona, L;Gilbert, CE
目的：为了确定孤立的眼缺损畸形的一个案例系列从南部India.Methods：儿童眼缺损没有全身功能招募从多个来源在印度安得拉邦的比例的家族性病例。结果：共检出先天性缺损畸形先证者56例，其中女性25例（44.6%），男性31例（57.4%）。在12例（21.4%）中，另一名家庭成员受到影响。兄弟姐妹的风险为3.8%。在25例（44.6%）的父母是近亲。结论：21.4%的情况下，孤立的眼缺损在这个高度近亲的人口，印度南部的家族，常染色体显性和常染色体隐性的机制可能在不同的家庭。
Aims: To identify the proportion of familial cases of isolated ocular colobomatous malformations in a case series from south India.Methods: Children with ocular coloboma without systemic features were recruited from multiple sources in Andhra Pradesh, India. Their families were traced, pedigrees drawn, and family members examined.Results: 56 probands, 25 females (44.6%) and 31 males (57.4%) with a colobomatous malformation were identified. In 12 cases (21.4%) another family member was affected. The risk to siblings was 3.8%. The parents were consanguineous in 25 cases (44.6%).Conclusions: 21.4% of cases of isolated ocular coloboma in this highly consanguineous population of south India were familial, with both autosomal dominant and autosomal recessive mechanisms likely in different families.