The burden of hereditary diseases of the visual organ in various populations and ethnic groups of the European part of the Russian Federation

Objective: to assess the burden of isolated and syndromic forms of hereditary pathology of the organ of vision (HPOV) in a number of populations and ethnic groups of the European part of the Russian Federation.

Methods. A total of 3,195,054 people (17 populations (12 ethnic groups) living in 14 regions of the European part of the Russian Federation) were examined. The families were examined by doctors of various profiles specializing in hereditary pathology.  All patients underwent clinical, genealogical, laboratory, standard and special ophthalmological, as well as molecular genetic studies. According to the indications, perimetry, optical coherence tomography and electrophysiological studies were performed. The methods of molecular genetic analysis used included direct Sanger sequencing, MLPA, RFLP, AFLP, and full-exome sequencing. A comparative analysis of cargo between populations was carried out using the c2 test and the Student’s t-test.

Results. Among all patients, the proportion of patients with isolated forms of HPOV was 49% (1458 patients), syndromic – 51%(1539patients). The predominant type of inheritance is autosomal dominant (AD). The prevalence of isolated forms of pathology of the organ of vision is on average 1:2196 people, syndromic – 1:2076, the total prevalence of all forms of hereditary ophthalmopathology was 1:1066 people. The prevalence of HPOV among the Russian population (1:1,479 people) is more than 2 times lower than in the ethnic populations of the European part of the Russian Federation (1: 778 people). Significant differences were revealed in all types of inheritance and general burden for isolated HPOV (AD-I χ2=56.51; autosomal recessive (AR)-I c2=11.79; X-linked-I c2=28.58; Total-I χ2=84.92; p≤0.05; D.f.=1). When comparing the syndromic forms, the greatest differences were noted for the total load (AD-Sum χ216=56.51; AR-Sum χ2=11.79; ХR- Sum χ2=28.58; Total- Sum χ2=84.92; p≤0.05; D.F.=1).

Conclusion. The study indicates the presence of variability in the cargo of NPOs between populations and ethnic groups of the European part of the Russian Federation.

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