Ophthalmic Findings in Patients with Autosomal Recessive Lamellar Ichthyosis due to TGM1 Mutations in an Isolated Population

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 6 affected females. All patients (9/9) demonstrated eye lid abnormalities with eight patients showing lid margin abnormalities. Madarosis was present in only 3 individuals and corneal scarring was documented in 2. All 9 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.