Макулярная электроретинография и методы визуализации сетчатки в диагностике болезни Штаргардта, верифицированной молекулярно-генетическими методами

Abstract

The aim of the study was to assess the data concerning the modern methods of retina visualization (optical coherence tomography and autofluorescence) and its interrelation with the data concerning the modern elec-troretinographic methods for research of Stargardt desease, verified with the help of molecular genetic methods. It was found that the shift of macular electroretinogramm to the red stimulus correlates with the parameters of optic coherent tomography: inverse high correlation between the "transverse defect" and a-wave amplitude of macular electroretinogramm (r=-0,83, p<0,01), thus indicating interconnection between lowering of photoreceptor function and structural changes of junction between outer and inner photoreceptor segments. Correlation between the "transverse defect" and b-wave amplitude of macular electroretinogramm (r=-0,37, p<0,01) proves the existence of interrelation between electrogenesis of middle retina layers (bipolar cells) in fovea and biometrical markers of structural changes in photoreceptors caused by Stargardt desease. The hallmarks of Stargardt desease, revealed by the optical coherence tomography, are the hyperreflective spots, localized in retinal pigment epithelium and reaching the outer nuclear layer, together with the damaged interface line of the outer and inner photoreceptors segments. Autofluoresence caused by Stargardt desease demonstrates combination of hypofluorescence in fovea with hypofluorescence in the posterior pole. For the first time the following etiologic mutations of ABCA4 gene, associated with Stargardt desease were revealed in Russian population: rsl800553 (Glyl961Glu), rs61752418 (Aspl093Gly), rs61751374 (Alal038Val), rs201471607 (Asn965Ser), rsl801581 (Arg943Gln), rs75197161 (Gly863Ala delG863), rs76157638 (Arg653Cys) и rs61751392 (Leu541Pro) ABCA4.