Allgrove Syndrome: A Report of New Pathological Variants in the AAAS Gene

Samir Jabbour, Patrick Hamel, Jean François Soucy, Luis H. Ospina

Research output: Contribution to journalArticle

Abstract

PURPOSE: To report 2 novel variants in the AAAS gene consistent with the diagnosis of Allgrove syndrome. METHODS: A 12-year-old girl was referred to our clinic for progressive bilateral decrease in visual acuity. She was known for achalasia that had been surgically treated at a very early age. On examination, she was found to have dry eye disease secondary to lacrimal insufficiency. She also had anisocoria, light-near dissociation, and bilateral optic nerve atrophy. RESULTS: Neurological examination and brain magnetic resonance imaging were within normal limits. Genetic workup revealed compound heterozygosity for 2 novel variants in the AAAS gene, confirming the diagnosis of Allgrove syndrome. The patient was referred to endocrinology to screen for adrenocorticotropic hormone insufficiency. She was started on topical lubricating therapy that improved her symptoms. CONCLUSIONS: Allgrove syndrome is a rare genetic disease that is characterized by the triad of achalasia, alacrima, and adrenal insufficiency. Early diagnosis, confirmed with genetic testing, is essential to initiate an appropriate follow-up and prevent a life-threatening addisonian crisis. Report of novel mutations is important to further characterize this disease.

Original languageEnglish (US)
Pages (from-to)782-783
Number of pages2
JournalCornea
Volume39
Issue number6
DOIs
StatePublished - Jun 1 2020

ASJC Scopus subject areas

  • Ophthalmology

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