Surgery treatment to patients in A Chinese family with vongenital nystagmus and screening mutation of FRMD7 gene

Abstract

Objective To evaluate the clinical surgery effect on a X chromosome linkage inheritance Chinese family with congenital nystagmus by comparing visual acuity, stereopsis, compensatory head posture between pre-operation and post-operation, and to determine the molecular pathogenesis of this family by gene sequencing candidate gene FRMD7. Methods The research was performed from December 2013 to October 2015. All patients in the congenital nystagmus family were performed shift of neutral zone surgery and after surgery vision, stereopsis, compensatory head posture change were observed. Exon sequence was detected in one patient (including propositus) and one normal person from each generation in this family. Results Compensatory head postures of 7 patients in all 8 patients were completely corrected, 1 patient had residual above 10° vertical compensatory head posture. The heterozygous mutation (c.G1403A) of 12th exon in FRMD7 changed 458th amino acid Arginine into Histidine (p.R468H). Conclusions The pathogenic gene is FRMD7. Shift of neutrual zone surgery can improve vertical compensatory head posture and increase visual acuity and stereopsis right in front of these patients. Key words: Congenital nystagmus; X-linked; Compensatary head posture; FRMD7 gene