Stargardt disease-associated mutation spectrum of a Russian Federation cohort

2017 ◽  
Vol 60 (2) ◽  
pp. 140-147 ◽  
Author(s):  
Inna V. Zolnikova ◽  
Vladimir V. Strelnikov ◽  
Natalia A. Skvortsova ◽  
Alexander S. Tanas ◽  
Debmalya Barh ◽  
...  
2018 ◽  
Vol 2018 ◽  
pp. 1-1
Author(s):  
Smaragda Kamakari ◽  
Vassiliki Kokkinou ◽  
George Koutsodontis ◽  
Polixeni Stamatiou ◽  
Christoforos Giatzakis ◽  
...  

2004 ◽  
Vol 45 (6) ◽  
pp. 1705 ◽  
Author(s):  
Alison V. September ◽  
Anna A. Vorster ◽  
Rajkumar S. Ramesar ◽  
L. Jacquie Greenberg

2017 ◽  
Vol 16 ◽  
pp. S67
Author(s):  
N.V. Petrova ◽  
N.J. Kashirskaya ◽  
D.K. Saydaeva ◽  
O.I. Simonova ◽  
E.I. Kondratyeva ◽  
...  

2021 ◽  
Vol 18 (4) ◽  
pp. 897-907
Author(s):  
I. V. Zolnikova ◽  
V. V. Kadyshev ◽  
A. V. Marakhonov ◽  
A. B. Chernyak ◽  
S. V. Milash ◽  
...  

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.


2016 ◽  
Vol 15 ◽  
pp. S52-S53 ◽  
Author(s):  
N. Kapranov ◽  
E. Kondratyeva ◽  
S. Krasovsky ◽  
E. Amelina ◽  
R. Zinchenko ◽  
...  

2018 ◽  
Vol 19 (8) ◽  
pp. 2196 ◽  
Author(s):  
Marco Nassisi ◽  
Saddek Mohand-Saïd ◽  
Claire-Marie Dhaenens ◽  
Fiona Boyard ◽  
Vanessa Démontant ◽  
...  

Here we report novel mutations in ABCA4 with the underlying phenotype in a large French cohort with autosomal recessive Stargardt disease. The DNA samples of 397 index subjects were analyzed in exons and flanking intronic regions of ABCA4 (NM_000350.2) by microarray analysis and direct Sanger sequencing. At the end of the screening, at least two likely pathogenic mutations were found in 302 patients (76.1%) while 95 remained unsolved: 40 (10.1%) with no variants identified, 52 (13.1%) with one heterozygous mutation, and 3 (0.7%) with at least one variant of uncertain significance (VUS). Sixty-three novel variants were identified in the cohort. Three of them were variants of uncertain significance. The other 60 mutations were classified as likely pathogenic or pathogenic, and were identified in 61 patients (15.4%). The majority of those were missense (55%) followed by frameshift and nonsense (30%), intronic (11.7%) variants, and in-frame deletions (3.3%). Only patients with variants never reported in literature were further analyzed herein. Recruited subjects underwent complete ophthalmic examination including best corrected visual acuity, kinetic and static perimetry, color vision test, full-field and multifocal electroretinography, color fundus photography, short-wavelength and near-infrared fundus autofluorescence imaging, and spectral domain optical coherence tomography. Clinical evaluation of each subject confirms the tendency that truncating mutations lead to a more severe phenotype with electroretinogram (ERG) impairment (p = 0.002) and an earlier age of onset (p = 0.037). Our study further expands the mutation spectrum in the exonic and flanking regions of ABCA4 underlying Stargardt disease.


2020 ◽  
pp. 3-5
Author(s):  
Y. G. Zakharenko ◽  
N. A. Kononova ◽  
V. L. Fedorin ◽  
Z. V. Fomkina ◽  
K. V. Chekirda

The results of the work to create a complex of high-precision hardware for the unit of length reproduction and transferring carried out at “D. I. Mendeleyev Institute for Metrology (VNIIM)” are represented. This complex will serve as the basis for the further development of the reference base of the Russian Federation in the field of length measurements and will allow reproduction of the unit of length at two wavelengths of 633 nm and 532 nm, as well as measurements of the wavelength of laser sources in vacuum in the range from 500 to 1050 nm.


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