Clinical and Genetic Correlations of Inherital Retinal Disease with Mutations in the ABCA4 Gene by Patients of the Russian Population
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,...
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Ophthalmology Publishing Group
2021-12-01
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| Series: | Oftalʹmologiâ |
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| Online Access: | https://www.ophthalmojournal.com/opht/article/view/1697 |
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| author | I. V. Zolnikova V. V. Kadyshev A. V. Marakhonov A. B. Chernyak S. V. Milash Yu. A. Bobrovskaya N. A. Urakova N. Sh. Kokoeva S. I. Kutsev R. A. Zinchenko |
| author_facet | I. V. Zolnikova V. V. Kadyshev A. V. Marakhonov A. B. Chernyak S. V. Milash Yu. A. Bobrovskaya N. A. Urakova N. Sh. Kokoeva S. I. Kutsev R. A. Zinchenko |
| author_sort | I. V. Zolnikova |
| collection | DOAJ |
| description | 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. |
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| language | Russian |
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| spelling | doaj.art-91590bec4d1f4f4ab2300d81ff5a86e42024-10-17T16:12:01ZrusOphthalmology Publishing GroupOftalʹmologiâ1816-50952500-08452021-12-0118489790710.18008/1816-5095-2021-4-897-907843Clinical and Genetic Correlations of Inherital Retinal Disease with Mutations in the ABCA4 Gene by Patients of the Russian PopulationI. V. Zolnikova0V. V. Kadyshev1A. V. Marakhonov2A. B. Chernyak3S. V. Milash4Yu. A. Bobrovskaya5N. A. Urakova6N. Sh. Kokoeva7S. I. Kutsev8R. A. Zinchenko9Helmholtz National Medical Research Center of Eye DiseasesResearch Centre for Medical GeneticsResearch Centre for Medical GeneticsPirogov Russian National Research Medical UniversityHelmholtz National Medical Research Center of Eye DiseasesHelmholtz National Medical Research Center of Eye DiseasesHelmholtz National Medical Research Center of Eye DiseasesHelmholtz National Medical Research Center of Eye DiseasesResearch Centre for Medical GeneticsResearch Centre for Medical GeneticsAim: 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.https://www.ophthalmojournal.com/opht/article/view/1697stargardt’s diseaseretinitis pigmentosaabca4geneticselectroretinographyoptical coherence tomographyautofluorescencedna diagnosticsmutationsclinical polymorphism |
| spellingShingle | I. V. Zolnikova V. V. Kadyshev A. V. Marakhonov A. B. Chernyak S. V. Milash Yu. A. Bobrovskaya N. A. Urakova N. Sh. Kokoeva S. I. Kutsev R. A. Zinchenko Clinical and Genetic Correlations of Inherital Retinal Disease with Mutations in the ABCA4 Gene by Patients of the Russian Population Oftalʹmologiâ stargardt’s disease retinitis pigmentosa abca4 genetics electroretinography optical coherence tomography autofluorescence dna diagnostics mutations clinical polymorphism |
| title | Clinical and Genetic Correlations of Inherital Retinal Disease with Mutations in the ABCA4 Gene by Patients of the Russian Population |
| title_full | Clinical and Genetic Correlations of Inherital Retinal Disease with Mutations in the ABCA4 Gene by Patients of the Russian Population |
| title_fullStr | Clinical and Genetic Correlations of Inherital Retinal Disease with Mutations in the ABCA4 Gene by Patients of the Russian Population |
| title_full_unstemmed | Clinical and Genetic Correlations of Inherital Retinal Disease with Mutations in the ABCA4 Gene by Patients of the Russian Population |
| title_short | Clinical and Genetic Correlations of Inherital Retinal Disease with Mutations in the ABCA4 Gene by Patients of the Russian Population |
| title_sort | clinical and genetic correlations of inherital retinal disease with mutations in the abca4 gene by patients of the russian population |
| topic | stargardt’s disease retinitis pigmentosa abca4 genetics electroretinography optical coherence tomography autofluorescence dna diagnostics mutations clinical polymorphism |
| url | https://www.ophthalmojournal.com/opht/article/view/1697 |
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