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.
