常染色体隐性层状鱼鳞病患者的眼部表现，其致病基因为 TGM1 基因突变，该患者来自孤立人群。
Ophthalmic findings in patients with autosomal recessive lamellar ichthyosis due to TGM1 mutations in an isolated population.
机构信息
Department of Cornea, External Disease and Refractive Surgery, Institute of Ophthalmology "Conde de Valenciana", Chimalpopoca #14, Colonia Obrera, Cuauhtémoc, 06800, Mexico City, Mexico.
Department of Genetics, Institute of Ophthalmology "Conde de Valenciana", Mexico City, Mexico.
出版信息
Int Ophthalmol. 2023 Oct;43(10):3659-3665. doi: 10.1007/s10792-023-02774-3. Epub 2023 Aug 5.
PURPOSE
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.
CONCLUSION
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.
目的
描述一组源自 TGM1 致病变异的墨西哥层状鱼鳞病（LI）患者的眼部临床特征。
方法
对来自墨西哥东南部一个小社区的具有明确临床诊断的层状鱼鳞病家族中的患者进行眼科检查、家系分析和基因筛查。
结果
在五个家族中发现了九名 LI 患者。有六名受影响的女性。所有患者（9/9）均存在眼睑异常，其中 8 名患者存在睑缘异常。仅有三人出现睫毛缺失，两人出现角膜瘢痕。所有九名个体均携带 TGM1 双等位基因突变，要么为纯合子，要么为复合杂合子。
结论
眼部异常在 TGM1 相关 LI 患者中很常见。各种私有或罕见突变的发生阻碍了对该疾病眼部异常的基因型-表型相关性的识别。
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