| Institution: | (1) Department of Health and Human Services, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA;(2) Department of Health and Human Services, The National Eye Institute, National Institutes of Health, Bethesda, MD, USA;(3) North Country Medical Eye Care, Gouverneur, NY, USA;(4) Department of Health and Human Services, The National Instiute of Child Health and Development, National Institutes of Health, Bethesda, MD, USA |
| Abstract: | BackgroundTriple-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.Case presentationWe 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.ConclusionsIn addition to known ophthalmic manifestations, triple-A syndrome can present with accommodative dysregulation and ocular signs of autonomic dysfunction. |
