MODERN APPROACH TO THE DIAGNOSIS AND TREATMENT OF OCULAR MANIFESTATIONS OF ICHTHYOSIS IN CHILDREN

Abstract

Ichthyosis represents a heterogeneous group of inherited disorders of keratinization. One of the main pathogenic mechanisms is associated with mutations in the FLG gene, which disrupt the expression of filaggrin—a protein of keratohyalin granules [7]. Insufficient filaggrin decreases the availability of free amino acids in the stratum corneum, impairing water retention. Consequently, patients with ichthyosis vulgaris develop marked xerosis, which is believed to play a role in ocular surface complications. Objective. To study the characteristics of ocular manifestations of ichthyosis and to optimize methods for their diagnosis and treatment. Methods. Eighty-two children with clinically confirmed congenital ichthyosis were examined. Molecular genetic analysis of the FLG gene was performed, focusing on mutations 2282delCAGT, R501X, S3247X, and R2447X. Ophthalmological assessment included visual acuity testing, Schirmer’s test, and ocular surface evaluation using the Ocular Surface Disease Index (OSDI). Results. The most frequent mutations were 2282delCAGT and R501X, both strongly associated with severe dry eye syndrome and the development of ectropion. In vulgar ichthyosis, the most common ocular manifestations were conjunctivitis (34%) and blepharitis (21%), along with dry eye syndrome (26%). In X-linked ichthyosis, corneal dystrophy was observed in 50% of cases, while congenital bullous ichthyosiform erythroderma was associated with symblepharon (38%) and keratitis (31%). Conclusion. Mutations in the FLG gene play a significant role in the development of ophthalmological complications in children with ichthyosis. Integration of genetic testing into ophthalmological screening, along with personalized therapeutic strategies, may improve long-term outcomes and quality of life in affected patients.