Saratov JOURNAL of Medical and Scientific Research

Research Centre for Medical Genetics

Rod-cone dystrophy with mutation in GUCY2D gene (clinical case)

Year: 2018, volume 14 Issue: №4 Pages: 928-931
Heading: Ophtalmology Article type: Case report
Authors: Zolnikova I.V., Kadyshev V.V., Zinchenko R.A., Egorova I.V.
Organization: Moscow Helmholtz Research Institute of Eye Diseases, Research Centre for Medical Genetics

The cinical case of rod-cone dystrophy (retinitis pigmentosa sine pigmento) in a patient with mutation in GUCY2D gene is described Mutations in GUCY2D gene are the common cause of Leber Congenital Amaurosis (LCA1, OMIM 204000), central areolarchoroidal dystrophy (CACD1 OMIM 215500), mutations in heterozygous, compound heterozygous and homozygous state are described in cone dystrophy CORD6 (OMIM 601777), but have not been described in rod-cone dystrophy. In patient who complained of nictalopia decrease of the best corrected visual acuity to 0.7 OD and 0.9 OS was revealed. Maximal electroretinogram was subnormal, which indicated decrease in the function of peripheral retina. 30 Hz flicker and macular ERG were within normal range. Not described previously as pathogenic variant of nucleotide sequence in exon 11 of GUCY2D gene (chrl 7:7916486G>A), causing missense mutation (p. Gly727Ser, NM_000180.3) in heterozygous state in patient was revealed. Thus we are first to describe genotype-phenotype associations of rod-cone degeneration with mentioned above pathological in GUCY2D gene.

2018_4-2_928-931.pdf451.51 KB