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. 2023 Nov 12;24(22):16231.
doi: 10.3390/ijms242216231.

Major Contribution of c.[1622T>C;3113C>T] Complex Allele and c.5882G>A Variant in ABCA4-Related Retinal Dystrophy in an Eastern European Population

Vitaly V Kadyshev  1 , Ekaterina A Alekseeva  1 , Vladimir V Strelnikov  1 , Anna A Stepanova  1 , Alexander V Polyakov  1 , Andrey V Marakhonov  1 , Sergey I Kutsev  1 , Rena A Zinchenko  1
Affiliations

Major Contribution of c.[1622T>C;3113C>T] Complex Allele and c.5882G>A Variant in ABCA4-Related Retinal Dystrophy in an Eastern European Population

Vitaly V Kadyshev et al. Int J Mol Sci. .

Abstract

Inherited retinal diseases (IRDs) constitute a prevalent group of inherited ocular disorders characterized by marked genetic diversity alongside moderate clinical variability. Among these, ABCA4-related eye pathology stands as a prominent form affecting the retina. In this study, we conducted an in-depth analysis of 96 patients harboring ABCA4 variants in the European part of Russia. Notably, the complex allele c.[1622T>C;3113C>T] (p.Leu541Pro;Ala1038Val, or L541P;A1038V) and the variant c.5882G>A (p.Gly1961Glu or G1961E) emerged as primary contributors to this ocular pathology within this population. Additionally, we elucidated distinct disease progression characteristics associated with the G1961E variant. Furthermore, our investigation revealed that patients with loss-of-function variants in ABCA4 were more inclined to develop phenotypes distinct from Stargardt disease. These findings provide crucial insights into the genetic and clinical landscape of ABCA4-related retinal dystrophies in this specific population.

Keywords: ABCA4; Stargardt disease; age-related macular dystrophy; complex allele; cone-rode dystrophy; genotype–phenotype correlation; retinitis pigmentosa.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
Distribution of ABCA4 variants by type revealed in Russian cohort of IRD patients.
Figure 2
Figure 2
Optical coherence tomograms of the right (a) and left (b) eyes in a patient (ID-16) with Stargardt’s disease 1 (STGD1).
Figure 3
Figure 3
Optical coherence tomograms and image of the fundus of the right (a,c) and left (b,d) eyes of a patient (ID-76) with Retinitis pigmentosa 19 (RP19).
Figure 4
Figure 4
Optical coherence tomograms of the right (a) and left (b) eyes in a patient (ID-31) with cone-rod dystrophy 3 (CORD3).
See this image and copyright information in PMC

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