Department of Ophthalmology, Xijing Hospital, Fourth Military Medical University, Xi'an, Shaanxi, China.
Eye (Lond). 2012 Aug;26(8):1039-43. doi: 10.1038/eye.2012.80. Epub 2012 Jun 1.
BACKGROUND/AIMS: To determine the genetic basis of myotonia congenita (MC) and strabismus in a large Caucasian family.
Seven patients making up four generations of a family with MC and strabismus were recruited. All patients had at least one standard ophthalmic examination, including best-corrected visual acuity, refraction, and ocular motility measurements. CLCN1 and SCN4A genes were sequenced and analysed for mutations.
Five out of the seven family members were diagnosed with MC by clinical history and electromyography. Ophthalmic history and exam revealed eyelid myotonia and strabismus. All patients with MC were diagnosed with strabismus between the ages of 3 and 6 and required surgical restoration of ocular alignment. Sequencing results revealed a c. 1333G>A; p. Val445Met mutation in the SCN4A gene.
There are few reports describing eyelid myotonia and strabismus in patients diagnosed with MC. We found significant ocular involvement in a family with a mutation in SCN4A. Future studies may confirm that MC with significant ocular involvement can be used to direct genetic analysis.
背景/目的：确定一个大型高加索家族先天性肌强直（MC）和斜视的遗传基础。
招募了一个由四代人组成的患有 MC 和斜视的大家庭中的七名患者。所有患者均至少进行了一次标准眼科检查，包括最佳矫正视力、屈光度和眼球运动测量。对 CLCN1 和 SCN4A 基因进行测序和突变分析。
七名家族成员中有五名根据临床病史和肌电图诊断为 MC。眼科病史和检查显示眼睑肌强直和斜视。所有患有 MC 的患者均在 3 至 6 岁之间被诊断为斜视，并需要手术矫正眼位。测序结果显示 SCN4A 基因的 c.1333G>A;p.Val445Met 突变。
很少有报道描述患有 MC 的患者的眼睑肌强直和斜视。我们在 SCN4A 基因突变的家族中发现了明显的眼部受累。未来的研究可能会证实，有明显眼部受累的 MC 可用于指导基因分析。
