Connell Benjamin J, Wilkinson Robin M, Barbour Julie M, Scotter Lindsey W, Poulsen Johan L, Wirth M Gabriella, Essex Rohan W, Savarirayan Ravi, Mackey David A
CERA, University of Melbourne, Department of Ophthalmology, Royal Victorian Eye and Ear Hospital, Australia.
Ophthalmic Genet. 2004 Sep;25(3):189-98. doi: 10.1080/13816810490498323.
To evaluate the clinical overlap of families with Duane syndrome and infantile esotropia to determine whether the identification of genes for Duane syndrome may explain some cases of infantile esotropia.
Three separate groups of patients were evaluated. 1) Families with features of infantile esotropia were identified through the Strabismus Inheritance Study Tasmania (SIST). Clinical details of participants and their families were reviewed for any cases of Duane syndrome. 2) Cases of Duane syndrome were identified through the clinical diagnostic database at the Royal Children's Hospital, Melbourne, and private ophthalmology clinics in Melbourne and Tasmania. Previous medical notes were reviewed and family history of strabismus noted. All affected individuals were invited for re-examination in cases where a positive family history of strabismus was reported; siblings, parents, and other family members, where appropriate, were invited to be examined for signs of Duane syndrome or infantile esotropia. 3) Cases of mosaic trisomy 8, which has been associated with Duane syndrome and infantile esotropia, were reviewed for signs of strabismus.
A total of 133 families from the SIST were reviewed, but no 'pure' families of Duane syndrome were identified. Two families with infantile esotropia had several members affected with Duane syndrome. Of the 40 index cases with Duane syndrome whose families agreed to be involved in the study, 21 had a family history of ocular motility disorders, but only two of these families had multiple cases of Duane syndrome. From 24 cases with mosaic trisomy 8, one individual case had Duane syndrome and another had mild congenital cataracts and infantile esotropia.
There is clinical overlap in families with Duane syndrome and infantile esotropia. We confirmed the previous association of mosaic trisomy 8 with both Duane syndrome and infantile esotropia. These data suggest that the two conditions may be allelic and may be due to a gene on chromosome 8.
评估患有杜安综合征和婴儿型内斜视的家庭之间的临床重叠情况，以确定杜安综合征相关基因的鉴定是否能解释部分婴儿型内斜视病例。
对三组不同的患者进行评估。1）通过塔斯马尼亚斜视遗传研究（SIST）确定具有婴儿型内斜视特征的家庭。回顾参与者及其家庭的临床细节，以查找杜安综合征病例。2）通过墨尔本皇家儿童医院的临床诊断数据库以及墨尔本和塔斯马尼亚的私立眼科诊所确定杜安综合征病例。查阅既往病历并记录斜视家族史。在报告有斜视家族史阳性的病例中，邀请所有受影响个体进行复查；在适当情况下，邀请兄弟姐妹、父母和其他家庭成员检查是否有杜安综合征或婴儿型内斜视体征。3）对与杜安综合征和婴儿型内斜视相关的8号染色体嵌合三体病例进行斜视体征复查。
共回顾了来自SIST的133个家庭，但未发现“纯”杜安综合征家庭。两个患有婴儿型内斜视的家庭有几名成员患有杜安综合征。在40例其家庭同意参与研究的杜安综合征索引病例中，21例有眼球运动障碍家族史，但其中只有两个家庭有多个杜安综合征病例。在24例8号染色体嵌合三体病例中，1例患有杜安综合征，另1例有轻度先天性白内障和婴儿型内斜视。
杜安综合征和婴儿型内斜视家庭存在临床重叠。我们证实了既往8号染色体嵌合三体与杜安综合征和婴儿型内斜视的关联。这些数据表明这两种情况可能是等位基因，可能是由于8号染色体上的一个基因所致。
