Clinical polymorphism and genetic heterogeneity of inherited retinal diseases
Abstract
Inherited retinal disease (IRD) is a class of ophthalmic disorders in which can be classified into diseases of primarily of rod system and with primarily of cone system, which include macular dystrophies. In the presented report the structure of spectrum of IRD in clinically polymorphic is presented on the base of clinical, molecular-genetics and instrumental (OCТ, autofluorescencе, eletroretinography).
About the Authors
I. V. Zolnikova
Helmholtz National Medical Research Center of Eye diseases
Russian Federation
Russian Federation
V. V. Kadyshev
Research Centre for Medical Genetics
Russian Federation
Russian Federation
A. V. Marakhonov
Research Centre for Medical Genetics
Russian Federation
Russian Federation
R. A. Zinchenko
Research Centre for Medical Genetics
Russian Federation
Russian Federation
Review
For citations:
Zolnikova I.V., Kadyshev V.V., Marakhonov A.V., Zinchenko R.A. Clinical polymorphism and genetic heterogeneity of inherited retinal diseases. Medical Genetics. 2020;19(8):42-43. (In Russ.)
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