PDF(Pubmed)
Abstract：
OBJECTIVE: To describe the ocular clinical characteristics of a group of Mexican patients with lamellar ichthyosis (LI) arising from TGM1 pathogenic variants.
METHODS: Ophthalmological exploration, pedigree analysis and genetic screening were performed in patients with an established clinical diagnosis of lamellar ichthyosis from families located in a small community in the Southeast of Mexico.
RESULTS: Nine patients with LI in five families were identified. There were six affected females. All patients (9/9) demonstrated eye lid abnormalities with eight patients showing lid margin abnormalities. Madarosis was present in only three individuals and corneal scarring was documented in two. All nine individuals carried biallelic TGM1 variants, either homozygously or as compound heterozygous.
CONCLUSIONS: Ocular anomalies are common in individuals with TGM1-related LI. The occurrence of a variety of private or rare mutations hampers the identification of a genotype-phenotype correlation for ocular anomalies in this disorder.
METHODS: Ophthalmological exploration, pedigree analysis and genetic screening were performed in patients with an established clinical diagnosis of lamellar ichthyosis from families located in a small community in the Southeast of Mexico.
RESULTS: Nine patients with LI in five families were identified. There were six affected females. All patients (9/9) demonstrated eye lid abnormalities with eight patients showing lid margin abnormalities. Madarosis was present in only three individuals and corneal scarring was documented in two. All nine individuals carried biallelic TGM1 variants, either homozygously or as compound heterozygous.
CONCLUSIONS: Ocular anomalies are common in individuals with TGM1-related LI. The occurrence of a variety of private or rare mutations hampers the identification of a genotype-phenotype correlation for ocular anomalies in this disorder.
摘要：
目的：描述由TGM1致病变异引起的一组墨西哥板层鱼鳞病（LI）患者的眼部临床特征。
方法：眼科探索，在墨西哥东南部一个小社区的家庭中，已确定临床诊断为层状鱼鳞病的患者进行了系谱分析和遗传筛查。
结果：确定了5个家族的9名LI患者。有六名受影响的女性。所有患者（9/9）均显示眼睑异常，其中8例患者显示眼睑边缘异常。仅在三个人中存在Madarosis，并且在两个人中记录了角膜疤痕。所有9个人都携带双等位基因TGM1变体，纯合或复合杂合。
结论：眼部异常在TGM1相关LI患者中很常见。各种私人或罕见突变的发生阻碍了该疾病中眼部异常的基因型-表型相关性的鉴定。
方法：眼科探索，在墨西哥东南部一个小社区的家庭中，已确定临床诊断为层状鱼鳞病的患者进行了系谱分析和遗传筛查。
结果：确定了5个家族的9名LI患者。有六名受影响的女性。所有患者（9/9）均显示眼睑异常，其中8例患者显示眼睑边缘异常。仅在三个人中存在Madarosis，并且在两个人中记录了角膜疤痕。所有9个人都携带双等位基因TGM1变体，纯合或复合杂合。
结论：眼部异常在TGM1相关LI患者中很常见。各种私人或罕见突变的发生阻碍了该疾病中眼部异常的基因型-表型相关性的鉴定。
