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Triple-A syndrome with prominent ophthalmic features and a novel mutation in the AAAS gene: a case report

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Author(s): Brooks Brian | Kleta Robert | Caruso Rafael | Stuart Caroline | Ludlow Jonathan | Stratakis Constantine

Journal: BMC Ophthalmology
ISSN 1471-2415

Volume: 4;
Issue: 1;
Start page: 7;
Date: 2004;
Original page

ABSTRACT
Abstract Background 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. Case presentation 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. Conclusions In addition to known ophthalmic manifestations, triple-A syndrome can present with accommodative dysregulation and ocular signs of autonomic dysfunction.
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