Genetic Causes of Rare Forms of Inherited Retinal Distrophy

Tatyana Vasilyeva¹, Andrey Marakhonov², Vitaly Kadyshev³, Rena Zinchenko^4
1Research Center for Medical Genetics, valyeva_debrie@mail.ru
²Research Centre for Medical Genetics, marakhonov@generesearch.ru
³Research Centre for Medical Genetics, vvh.kad@gmail.com
⁴Research Centre for Medical Genetics, renazinchenko@mail.ru

Retinal dystrophy is highly heterogeneous,  this “frequent among rare” inherited eye pathologies which result in blindness due to photoreceptors death. Though some common forms of retinal dystrophy are associated with well-known and years ago established genes, hundreds of others are found and kept being revealed to be involved in its pathogenesis. We reported 6 solved using next generation sequencing technology (whole exom sequencing) cases of hereditary retinitis pigmentosa in an advanced stage of the disease progression which were found to be associated with pathogenic nucleotide sequence variants in known genes PRPF31, IFT140, RGS9, RPGR, RP1, and IMPG2. All 6 analyzed cases were characterized by a similar clinical picture of the deisease at its terminal stage. NGS analysis is the only method for DNA-diagnostics of genetically diverse and clinically homogeneous forms of inherited retinal dystrophy.