FRMD7 Variants Associated with Congenital Nystagmus in Korean Population

Congenital nystagmus (CN) is the involuntary oscillation of the eyes with onset in the first few months of life. CN can be an idiopathic disease (idiopathic infantile nystagmus, IIN) or can be a feature of other ocular diseases. The inheritance of CN are heterogenous, but the most common form is X-linked-IIN. FRMD7 resides at Xq26-27 and approximately 50% of X-linked IIN families map to this region. Currently, over 70 different mutations within FRMD7 have been reported. The aim of this study is to determine the role of FRMD7 in a Korean CN cohort.