This literature review offers a detailed description of the genes and proteins involved in pathophysiological processes in isolated retinitis pigmentosa (RP). To date, 84 genes and 7 candidate genes have been described for non-syndromic RP. Each of these genes encodes a protein that plays a role in vital processes in the retina and / or retinal pigment epithelium, including the cascade of phototransduction (transmission of the visual signal), the visual cycle, ciliary transport, the environment of photoreceptor cilia and the interphotoreceptor matrix. The identification and study of pathophysiological pathways affected in non-syndromic RP is important for understanding the main pathogenic ways and developing approaches to target treatment.

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Врожденная аниридия (OMIM#106210) (ВА) - наследственное аутосомно-доминантное заболевание, ассоциированное с внутригенными мутациями гена PAX6 или крупными хромосомными аберрациями с вовлечением региона 11p13 в гетерозиготном состоянии. Проведено изучение особенностей спектра мутаций гена PAX6 и региона 11p13 в когорте пациентов с ВА из России. Обследованы 184 пациента из 152 неродственных семей. У 17 пациентов из 12 неродственных семей в регионе 11p13 обнаружены сходные делеции дистантной 3'-цис-регуляторной области гена PAX6 размером 0,3-1,5 млн п.н. Частота 3'-цис делеций составила 8% (12/152) и превысила частоту обычной нонсенс мутации в гене PAX6 c.718C>T (9/152, 6%). Высокая частота делеций указывает на возможно общий механизм их образования в «горячем» локусе региона 11p13. Aniridia (OMIM 106210) is an autosomal dominant congenital disorder caused by heterozygous PAX6 intragenic mutations or chromosome 11p13 rearrangements. Molecular genetic study aimed to determine PAX6 damage spectrum peculiarities in Russian cohort. 152 unrelated families with congenital aniridia (184 patients) underwent ophthalmic examination and DNA testing. 17 patients from 12 unrelated families (4 familial and 8 sporadic probands) shared likely the same 11p13 0.3-1.5 Mb deletion affecting PAX6 downstream regulatory regions. The frequency of these deletions, 8% (12/152), was higher than PAX6 hotspot c.718C>T rate (8/152, 6%). A high rate of the deletions suggests a common underlying mechanism of its formation and points to 11p13 genomic region instability.

Aim: to study genotype-phenotype correlations in patients with inherited retinal diseases with mutations in ABCA4 gene in Russian Federation.Patients and methods. 21 patients from Russian population aged from 7 to 51 years old (mean age 20 ± 11 years with best-corrected visual acuity from 0,02 to 0,6 (0,14 ± 0,11) with ABCA4-associated retinopathy, verified by molecular genetics methods. All patients besides standard ophthalmic examination and photodocumentation were performed Spectral-Domain OCT and fundus autofluorescence on Spectralis ®HRA+OCT (Heidelberg Engineering, Germany). Full-field electroretinogram (ERG), 30-Hz flicker ERG and macular chromatic ERG (MERG) to red stimulus were recorded on electroretinographic system MBN (MBN, Russia). (Russia) Molecular genetic studies were performed using Next Generation Sequencing (NGS) and Sandger direct sequencing. Results: In ABCA4-associated Stargardt disease 1 type (STGD1) genotype [p.L541P, p.A1038V] of «frequent» mutations was revealed in 9 patients, in 2 cases in was associated another “frequent” mutation p.G1961E. In 4 patients with genotype [p.L541P, p.A1038V] “severe” phenotype of Stargardt disease was found: with large defect of the ellipsoid zone and large zone of central reduced autofluorescence, severely subnormal macular ERG (MERG) to red stimulus and subnormal 30 Hz flicker and full-field maximal ERG. In one patient with these mutations in homozygous state ABCA4-associated cone-rod dystrophy (CORD3, clinically looking alike secondary retinal dystrophy is diagnosed. In 2 patients with genotype [p.L541P, p.A1038V] and mutation p.G1961E was found mild phenotype. One patient with homozygous mutation p.R653C autosomal recessive ABCA4-associated retinitis pigmentosa (RP19) was diagnosed. Clinical picture and autofluorescence were polymorphic in all patients.Conclusions. Our study with ophthalmological, molecular genetics and instrumental methods widens the spectrum of clinical signs of inherited eye diseases associated with mutations in АВСА4 gene, widens the spectrum mutations in Russian Federation and reveals clinicо-genetic genotype-phenotype correlations.

Multimodal visualization data of inherited retinal degeneration (IRD) on a Mirante platform (Nidek, Japan), used in a number of clinical cases, is compared with the data obtained by electrophysiological diagnostic methods. 4 patients with varying IRD were examined: adult-onset foveomacular vitelliform dystrophy, Stargardt disease, including those with fundus flavimaculatus, and retinitis pigmentosa. Multimodal imaging includes: colour fundus imaging, fundus autofluorescence, retro mode, and optical coherence tomography. Electroretinography was performed using an MBN electroretinograph (Russia), and electrooculography was performed using a RETIscan Science system (Roland Consult, Germany). Using non-invasive retinal imaging methods, specific patterns of inherited dystrophies were shown, which correlated well with the data of electrophysiological research methods. The combination of multimodal imaging on the Mirante platform (Nidek, Japan) in combination with electrophysiological diagnostic methods can be successfully used in complex diagnostics, monitoring of the progression, and evaluation of the results of IRD treatment.