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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Detalhes bibliográficos
Main Authors: 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
Formato: Artigo
Idioma:Russo
Publicado em: Ophthalmology Publishing Group 2021-12-01
Colecção:Oftalʹmologiâ
Assuntos:
stargardt’s disease
retinitis pigmentosa
abca4
genetics
electroretinography
optical coherence tomography
autofluorescence
dna diagnostics
mutations
clinical polymorphism
Acesso em linha:https://www.ophthalmojournal.com/opht/article/view/1697
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