Ophthalmic findings in patients with autosomal recessive lamellar ichthyosis due to TGM1 mutations in an isolated population

• Published in: International ophthalmology 2023-10, Vol.43 (10), p.3659-3665
• Main Authors: Macriz-Romero, Nicole, Vera-Duarte, Guillermo Raul, Guerrero-Becerril, Jesus, Chacón-Camacho, Oscar Francisco, Astiazarán, Mirena C, Zenteno, Juan Carlos, Graue-Hernandez, Enrique O.
• Format: Article
• Language: English
• Subjects: Abnormalities; Anomalies; Congenital diseases; Cornea; Disease; Eye; Genes; Genetic analysis; Genetic screening; Genotype & phenotype; Genotypes; Ichthyosis; Lamellar structure; Medicine; Medicine & Public Health; Mutation; Ophthalmology; Original Paper; Patients; Phenotypes; Skin; Skin diseases
• ISSN: 1573-2630; 0165-5701; 1573-2630
• DOI: 10.1007/s10792-023-02774-3

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.