Hewitt Alex W, Bennett Sonya L, Dimasi David P, Craig Jamie E, Mackey David A
Department of Ophthalmology, Flinders University, Adelaide, and Glaucoma Research Unit, Eye Research Australia, Royal Victorian Eye and Ear Hospital, Melbourne, Australia.
Am J Ophthalmol. 2006 Feb;141(2):402-3. doi: 10.1016/j.ajo.2005.08.073.
To describe the phenotype of an individual homozygous for the common Gln368STOP myocilin mutation and to discuss the other family members.
Cascade screening was performed for Australian families that had been identified as having the myocilin Gln368STOP mutation.
Recruited subjects underwent comprehensive clinical examination and mutation analysis for the Gln368STOP myocilin mutation by direct sequencing.
One 49-year-old woman was found to be homozygous for the mutation. Her maximal recorded intraocular pressure was 17 mm Hg. Bilateral optic disk examination revealed small, healthy optic discs. Automated perimetry testing was normal.
Neither the individual homozygous for the Gln368STOP myocilin mutation nor her younger heterozygous siblings displayed any signs suggestive of glaucoma. One of the two heterozygous parents did manifest glaucoma. Although there is the possibility of the homozygous individual developing glaucoma in the future, she does not manifest a phenotype that is more severe than usual.
描述一名携带常见的肌纤蛋白Gln368STOP突变纯合子个体的表型，并讨论其他家庭成员情况。
对已确定携带肌纤蛋白Gln368STOP突变的澳大利亚家庭进行级联筛查。
招募的受试者接受全面临床检查，并通过直接测序对Gln368STOP肌纤蛋白突变进行分析。
发现一名49岁女性为该突变的纯合子。其记录到的最高眼压为17毫米汞柱。双侧视盘检查显示视盘小且健康。自动视野检查正常。
携带Gln368STOP肌纤蛋白突变的纯合子个体及其较年轻的杂合子兄弟姐妹均未表现出任何提示青光眼的体征。两名杂合子父母中有一人确实患有青光眼。尽管该纯合子个体未来有可能患青光眼，但她并未表现出比平常更严重的表型。
