印度南部非综合征性眼裂缺损的家族性因素
The familial contribution to non-syndromic ocular coloboma in south India.
作者信息
Hornby S J, Dandona L, Jones R B, Stewart H, Gilbert C E
机构信息
Department of Epidemiology and International Eye Health, Institute of Ophthalmology, London, UK.
出版信息
Br J Ophthalmol. 2003 Mar;87(3):336-40. doi: 10.1136/bjo.87.3.336.
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.
目的
确定印度南部一个病例系列中孤立性眼裂畸形的家族性病例比例。
方法
从印度安得拉邦的多个来源招募无全身特征的眼裂患儿。追踪他们的家庭，绘制系谱，并检查家庭成员。
结果
共确定了56名先证者，其中25名女性（44.6%）和31名男性（57.4%）患有眼裂畸形。12例（21.4%）有其他家庭成员受影响。同胞的患病风险为3.8%。25例（44.6%）患儿的父母为近亲结婚。
结论
在印度南部这个近亲结婚率很高的人群中，21.4%的孤立性眼裂畸形病例为家族性，不同家族可能存在常染色体显性和常染色体隐性两种遗传机制。
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