2. Academic Validation
  3. Triple-A syndrome with prominent ophthalmic features and a novel mutation in the AAAS gene: a case report

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

  • BMC Ophthalmol. 2004 Jun 24;4:7. doi: 10.1186/1471-2415-4-7.
Brian P Brooks 1,  Robert Kleta,  Rafael C Caruso,  Caroline Stuart,  Jonathan Ludlow,  Constantine A Stratakis
Affiliations

Affiliation

  • 1 National Human Genome Research Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD, USA. brooksb@mail.nih.gov
PMID: 15217518 DOI: 10.1186/1471-2415-4-7
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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