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.