AUTHOR=Liu Fanfei , Wang Minjin , Liao Meng , Liu Longqian , Jiang Xiaoshuang 

TITLE=X-linked FRMD7 gene mutation in idiopathic congenital nystagmus and its role in eye movement: A case report and literature review

JOURNAL=Frontiers in Ophthalmology

VOLUME=2

YEAR=2023

URL=https://www.frontiersin.org/journals/ophthalmology/articles/10.3389/fopht.2022.1080869

DOI=10.3389/fopht.2022.1080869

ISSN=2674-0826

ABSTRACT=<sec><title>Background</title><p>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.</p></sec><sec><title>Case presentation</title><p>We report a girl with uncontrollable binocular oscillation and anomalous head posture, then presented a novel heterozygous missense variant (c.686G&gt;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.</p></sec><sec><title>Conclusions</title><p>This is the first report on a mutation (c.686G&gt;T) caused the substitution of Arg (R) with Leu (L) at position 229 (p.R229L) of the FRMD7 protein in a patient with ICN.</p></sec>