Khan Arif O, Aldahmesh Mohammed A, Mohamed Jawahir Y, Alkuraya Fowzan S
Division of Pediatric Ophthalmology, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia; Department of Genetics, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia.
J AAPOS. 2013 Dec;17(6):643-5. doi: 10.1016/j.jaapos.2013.08.004. Epub 2013 Nov 7.
Corneal enlargement during the first 3 years of life can be a sign of early childhood glaucoma and optic nerve head cupping is a useful confirmatory finding. We report 3 children with corneal enlargement without optic nerve head cupping who had recessive CYP1B1 mutations, the most common identifiable cause of primary congenital glaucoma. One child later developed unilateral Haab striae, still in the absence of optic disk cupping. These cases illustrate that CYP1B1-related corneal changes can occur in young children without visible optic nerve head damage.
生命最初3年期间角膜增大可能是幼儿青光眼的迹象，而视神经乳头杯状凹陷是一项有用的确诊依据。我们报告了3例角膜增大但无视神经乳头杯状凹陷的儿童，他们存在隐性CYP1B1突变，这是原发性先天性青光眼最常见的可识别病因。其中1例儿童后来出现了单侧哈布条纹，此时仍无视盘杯状凹陷。这些病例表明，CYP1B1相关的角膜改变可发生于幼儿，而无明显的视神经损伤。
