Open AccessCLINICAL-GENETIC FEATURES OF THE KNOBLOCH SYNDROME IN THE RUSSIAN FAMILY
Author(s) -
О. В. Хлебникова,
Хлебникова Ольга Вадимовна,
Е. Л. Дадали,
Дадали Е. Л,
Л. А. Бессонова,
Бессонова Л. А,
Ф. А. Коновалов,
Коновалов Ф. А
Publication year - 2018
Publication title -
rossijskaâ pediatričeskaâ oftalʹmologiâ
Language(s) - English
Resource type - Journals
eISSN - 2412-432X
pISSN - 1993-1859
DOI - 10.18821/1993-1859-2018-13-2-109-112
Subject(s) - medicine
The article presents the clinical and genetic characteristics of a patient with Knobloch syndrome caused by the previously indescried combination of mutations in the compound heterozygous state c.4054_4055delCT / c.1469-2A>G in the gene COL18A1. The peculiarity of the presented case is the absence of symptoms of central nervous system damage, found in most patients with this syndrome.