Inherited retinal diseases in patients with ABCA4 gene mutations

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ABCA4 is one of the main genes which mutations are associated with various inherited retinal diseases (IRD) such as Stargardt disease, cone dystrophy, cone-rod dystrophy, and retinitis pigmentosa. Wide prevalence of IRD, high heterogeneity of ABCA4 gene mutations that lead to impaired function of the protein with varying expressiveness make studying of the clinical and genetic characteristics of retinal diseases relevant for further investigations into pathogenesis, prognosis and outcome of the disease. This article reviews the literature on incidence of IRD caused by mutations in the ABCA4 gene and characteristics of the clinical progression of retinal diseases associated with various types of mutations, and presents analysis of clinical and genetic correlations in terms of the effect the mutation has on the structure or function of the protein.

Keywords:

inherited retinal diseases

Stargardt disease

cone-rod dystrophy

retinitis pigmentosa

mutations

ABCA4

phenotype-genotype correlations

Authors:

Sheremet N.L.

FGBU "NII glaznykh bolezneĭ" RAMN

Grushke I.G.

Research Institute of Eye Diseases, 11 A, B, Rossolimo St., Moscow, Russia, 119021

Zhorzholadze N.V.

FGBU "NII glaznykh bolezneĭ" RAMN

Tanas A.S.

Research Centre of Medical Genetics, 1 Moskvorech’e St., Moscow, Russia, 115478

Strel’nikov V.V.

Research Centre of Medical Genetics, 1 Moskvorech’e St., Moscow, Russian Federation, 115478

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