%0 Case Reports
%T X-linked FRMD7 gene mutation in idiopathic congenital nystagmus and its role in eye movement: A case report and literature review.
%A Liu F
%A Wang M
%A Liao M
%A Liu L
%A Jiang X
%J Front Ophthalmol (Lausanne)
%V 2
%N 0
%D 2022
%M 38983508
暂无%R 10.3389/fopht.2022.1080869
%X <B>UNASSIGNED: </B>Idiopathic congenital nystagmus (ICN) is an inherited disorder characterized by uncontrollable binocular conjugating oscillation. X-linked idiopathic congenital nystagmus is one of the most prevalent types of ICN. Elucidation of the genetic mechanisms involved in ICN will enhance our understanding of its molecular etiology.<BR><B>UNASSIGNED: </B>We report a girl with uncontrollable binocular oscillation and anomalous head posture, then presented a novel heterozygous missense variant (c.686G>T) within the mutation-rich region of the FERM domain containing 7 (FRMD7) gene in her family member. The girl received occlusion therapy and surgical operation which balanced her binocular vision and corrected the anomalous head posture.<BR><B>UNASSIGNED: </B>This is the first report on a mutation (c.686G>T) caused the substitution of Arg (R) with Leu (L) at position 229 (p.R229L) of the FRMD7 protein in a patient with ICN.