К вопросу о медико-генетическом консультировании при различных формах врожденной и наследственной офтальмопатологии

Abstract

Purpose. To evaluate the results in genetic consulting of patients with various forms of congenital and hereditary eyes pathology. Material and methods. The study is based on an analysis of results in genetic consulting and molecular genetic investigations of DNA samples of 18 patients: congenital corneal dystrophy (n=3); congenital cataract (n=11); Norrie disease (n = 4). All patients had a comprehensive ophthalmologic clinical and functional examination according to the forms of pathology. Geneticist physician conducted a genealogical analysis. A study of exons and flanking intronic regions was performed using methods of analysis of amplified fragment length polymorphism, restriction fragments and direct sequencing. Results. The clinical diagnosis of endothelial corneal dystrophy with autosomal recessive mode of inheritance using molecular genetic methods in 2 of the 3 cases was confirmed, and a de novo mutation in the gene SLC4A11 non-described previously was found. In the group with hereditary diseases the lens pathogenic mutations were detected in the GJA3 andGJA8 genes in 2 of 11 cases (18%). Pathogenic mutations in NDP gene were detected only in 2 of 4 family members studied, and its sibling proband, directed to the genetic analysis of patients with a clinical diagnosis Norrie disease. In another of the studied probands the diseasecausing mutation was not reveled, and thus, the molecular genetic diagnosis of Norrie disease was not confirmed. Conclusion. For the first time in the Russian Federation pathogenic mutations in the gene SLC4A11 collagen, previously did not described in the literature, were revealed in patients with congenital endothelial corneal dystrophy, in a patient with congenital cataract in the gene GJA8. The success of genetic consulting depends on the complete genealogical analysis, and the correct determination of the clinical and genetic form of pathology.