Article
[Fundus albipunctatus with mutations in the RDH5 gene (clinical case)].
Vestnik oftalmologii - 1 Jan 2021
Zolnikova I V, Kadyshev V V, Marakhonov A V, Zinchenko R A, Cherniak A B, Milash S V, Kogoleva L V, Bobrovskaya Yu A, Kokoeva N S, Egorova I V, Rogova S Yu
Abstract excerpt
The article describes a clinical case of a 14-year old patient with RDH5 mutations (OMIM *601617) in patient with fundus albipunctatus (OMIM #136880) and characteristic biomarkers of this disease with previously described pathogenic variant of nucleotic sequence in exon 3 of the RDH5 gene (NM_002905.3:c.500G>A), causing a missense change (p.Arg167His) in heterozygous state and previously not described pathogenic...
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