Display Settings:

Format

Send to:

Choose Destination
See comment in PubMed Commons below
BMC Ophthalmol. 2004 Jun 24;4:7.

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

Author information

  • 1National Human Genome Research Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD, USA. brooksb@mail.nih.gov

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.

PMID:
15217518
[PubMed - indexed for MEDLINE]
PMCID:
PMC459227
Free PMC Article

Images from this publication.See all images (2)Free text

Figure 1
Figure 2
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for BioMed Central Icon for PubMed Central
    Loading ...
    Write to the Help Desk