Brooks Brian P, Kleta Robert, Caruso Rafael C, Stuart Caroline, Ludlow Jonathan, Stratakis Constantine A
National Human Genome Research Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD, USA.
BMC Ophthalmol. 2004 Jun 24;4:7. doi: 10.1186/1471-2415-4-7.
Triple-A syndrome (Allgrove syndrome) is an autosomal recessive disorder characterized by adrenal insufficiency, alacrima, achalasia, and - occasionally - autonomic instability. Mutations have been found in the AAAS gene on 12q13.
We present the case of a 12 year-old boy with classic systemic features of triple-A syndrome and several prominent ophthalmic features, including: accommodative spasm, dry eye, superficial punctate keratopathy, and pupillary hypersensitivity to dilute pilocarpine. MRI showed small lacrimal glands bilaterally. DNA sequencing of PCR-amplified fragments from the 16 exons of the AAAS gene revealed compound heterozygosity for a new, out-of-frame 5-bp deletion in exon 15, c1368-1372delGCTCA, and a previously-described nonsense mutation in exon 9, c938C>T, R286X.
In addition to known ophthalmic manifestations, triple-A syndrome can present with accommodative dysregulation and ocular signs of autonomic dysfunction.
三 A 综合征（奥尔格罗夫综合征）是一种常染色体隐性疾病，其特征为肾上腺功能不全、无泪、贲门失弛缓症，偶尔还伴有自主神经功能不稳定。已发现 12q13 上的 AAAS 基因存在突变。
我们报告了一名 12 岁男孩的病例，他具有三 A 综合征的典型全身特征以及一些突出的眼科特征，包括：调节痉挛、干眼、浅层点状角膜病变以及瞳孔对稀释毛果芸香碱过敏。MRI 显示双侧泪腺较小。对来自 AAAS 基因 16 个外显子的 PCR 扩增片段进行 DNA 测序，发现外显子 15 中有一个新的移码 5 碱基缺失（c1368 - 1372delGCTCA）和外显子 9 中一个先前描述的无义突变（c938C>T，R286X）的复合杂合性。
除了已知的眼科表现外，三 A 综合征还可出现调节失调和自主神经功能障碍的眼部体征。
