Nucleotide changes in patients with familial exudative vitreoretinopathy in the Russian Federation

Background. Familial exudative vitreoretinopathy (FEVR) is a rare hereditary genetically heterogeneous disease characterized by impaired retinal angiogenesis and variable clinical manifestations. The FZD4 gene is the most studied of those associated with FEVR. Molecular genetic examination of a large cohort of patients with FEVR in the Russian Federation was not carried out.

Objective: to study the spectrum of variants of the nucleotide sequence of genes in patients with FEVR in the Russian Federation, to identify clinical and genetic correlations.

Methods. 58 patients (31 girls, 27 boys) with FEVR aged from 3 weeks to 17 years were examined in an interdisciplinary manner at the Helmholtz National Research Centre of Eye disease and the Research Centre for Medical Genetics. All patients underwent an in-depth ophthalmological examination. The molecular genetic examination was carried out by direct Sanger sequencing and high-throughput sequencing methods.

Results. Variants of the nucleotide sequence of the FZD4 gene were found in 10 patients (17.2%) from 9 unrelated families, of which 3 were identified for the first time. Single-nucleotide deletions and substitutions were identified with the same frequency. The features of patients with identified variants of the nucleotide sequence of the FZD4 gene are early manifestation, asymmetric lesion, progressive course and autosomal dominant inheritance.

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