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BMC Ophthalmology
Published in: BMC Ophthalmology 1/2004

Open Access 01-12-2004 | Case report

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

Authors: Brian P Brooks, Robert Kleta, Rafael C Caruso, Caroline Stuart, Jonathan Ludlow, Constantine A Stratakis

Published in: BMC Ophthalmology | Issue 1/2004

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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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Metadata
Title
Triple-A syndrome with prominent ophthalmic features and a novel mutation in the AAASgene: a case report
Authors
Brian P Brooks
Robert Kleta
Rafael C Caruso
Caroline Stuart
Jonathan Ludlow
Constantine A Stratakis
Publication date
01-12-2004
Publisher
BioMed Central
Published in
BMC Ophthalmology / Issue 1/2004
Electronic ISSN: 1471-2415
DOI
https://doi.org/10.1186/1471-2415-4-7

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