Shen Tao, Qiu Xuan, Lin Xiaoming, Lin Jing, Li Xiuling, Chen Qiwen, Pan Liuqing, Wang Zhonghao, Shen Huangxuan, Zhang Qingjiong, Yan Jianhua
State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China.
Ophthalmic Genet. 2022 Feb;43(1):88-96. doi: 10.1080/13816810.2021.1961283. Epub 2021 Aug 3.
We aimed to reveal the underlying genetic defect in a multigenerational Chinese family with autosomal dominant concomitant strabismus complicated by multiple ocular developmental abnormalities.
Comprehensive ophthalmic examinations were performed in 14 patients and 24 healthy family members. Whole exome sequencing was performed, and Sanger sequencing was used to confirm the probable mutation in all the family members.
Concomitant strabismus was the predominant phenotype in the affected family members, although the patients also exhibited variable phenotypes, including nystagmus, mild iris abnormalities, myopia, cataract, and coloboma. An R208W mutation in was identified as the pathogenic mutation in the affected family members.
We recommend considering as a candidate gene in the diagnostic screen for familial concomitant strabismus in order to avoid missed diagnosis of the mild ocular abnormalities. Careful examinations of mild ocular phenotypes are necessary for an accurate diagnosis of varied ocular abnormalities in the families with the mutation, and proper diagnosis can facilitate genetic and clinical counseling for affected patients.
我们旨在揭示一个患有常染色体显性遗传伴随性斜视并伴有多种眼部发育异常的多代中国家系的潜在基因缺陷。
对14名患者和24名健康家庭成员进行了全面的眼科检查。进行了全外显子组测序，并使用桑格测序法确认所有家庭成员中的可能突变。
尽管患者还表现出多种不同的表型，包括眼球震颤、轻度虹膜异常、近视、白内障和缺损，但伴随性斜视是受影响家庭成员的主要表型。在受影响的家庭成员中，鉴定出 中的R208W突变是致病突变。
我们建议在家族性伴随性斜视的诊断筛查中考虑 将其作为候选基因，以避免漏诊轻度眼部异常。对于有 突变的家系中各种眼部异常的准确诊断，仔细检查轻度眼部表型是必要的，正确的诊断有助于为受影响患者提供遗传和临床咨询。
