Allgrove Syndrome and the Eye
While rare, this condition can affect ocular health and must be managed accordingly.
Allgrove syndrome, also known as Triple-A syndrome or AAAS, is a rare genetic disorder that results from an autosomal recessive muta-tion in the AAAS gene.1 Diagnosis is challenging, with fewer than 100 cases of AAAS reported worldwide since its initial description in 1978.1,2
AAAS is characterized by adreno-corticotrophic, hormone-resistant adrenal insufficiency, alacrimia, and achalasia, and may also present with autonomic nervous system dysfunction and neurodegeneration.1 Adrenal insufficiency alters metabolic and hormonal regulation, which can affect tear production, eyelid function, and corneal integrity. Alacrimia is the absence of or reduction in tear production.2 Achalasia is the inability of the lower esophageal sphincter to relax, reducing a patient’s ability to consume solid foods and receive proper nutrients. This sometimes leads to nutritional deficiencies.
The following case highlights why it’s important for optometrists to recognize and manage rare systemic diseases that affect ocular health, with a focus on AAAS.
CASE REPORT
A 57-year-old White woman was referred by her neurologist to my dry eye clinic for evaluation. She reported ocular pain, described as throbbing, that was worse in her right eye, fluctuated throughout the day, and worsened with fatigue. She also reported frontal headaches.
Her initial Standardized Patient Evaluation of Eye Dryness (SPEED)score was 24/28, and she rated her ocular pain as 7/10. Also, she reported that she had recently been diagnosed with AAAS via mitochondrial testing.
The patient’s baseline examination revealed the following:
- Schirmer test: 0 mm OU (anesthetized and unanesthetized)
- Tear breakup time (TBUT): 2 seconds OU
- Tear osmolarity: 283 mOsm/L OU
- Meibography: approximately 30% atrophy with mild truncation and inspissation on the bilateral lower lids (Figure 1)
- Slit lamp examination: bilateral moderate meibomian gland dysfunction (MGD) with turbid and thickened meibum, 1+ conjunctival injection, and 1+ corneal inferior fine superficial punctate keratopathy (Figure 2)
Treatment was initiated using cyclosporine 0.05%, a preservative-free vitamin A ophthalmic ointment for bedtime, a preservative-free tea tree oil eyelid cleansing wipe, a daily oral nutritional supplement, and a daily heat mask.
At her 6-week follow-up, the patient reported significant improvement in her symptoms, with her ocular pain decreasing to 0/10 and SPEED score improving to 12/28. Tear quality and volume improved, TBUT increased to 8 seconds, and corneal staining decreased.
DISCUSSION
Ocular manifestations of AAAS primarily stem from alacrimia, leading to severe dry eye, corneal surface damage, and secondary MGD.3-5 Research regarding management of ocular manifestations of AAAS is limited and mainly involves small published case reports, but it appears to follow the established trend of other autoimmune ocular surface disease treatments.
Management of AAAS focuses on optimizing tear film stability and protecting the ocular surface. Artificial tears and ocular lubricants serve as first-line treatments, with nighttime ophthalmic ointments recommended for those patients who have incomplete lid closure or nocturnal exposure.2,3
Topical antiinflammatory therapy, particularly cyclosporine A 0.05%, has demonstrated efficacy in improving tear production, reducing corneal staining, and alleviating ocular discomfort in AAAS patients.2,6
Additional supportive measures may include warm compresses and eyelid hygiene to address MGD and optimize lipid layer quality.3
Early recognition of AAAS and a tailored treatment regimen are essential in the prevention of long-term ocular surface complications and the preservation of visual function in affected patients.
FORWARD-THINKING OUTLOOK
As our understanding of AAAS and other rare genetic conditions evolves, ODs may be among the first providers to recognize subtle ocular findings that point to a broader, multisystem process, even when the presentation doesn’t fit the classic dry eye narrative. We can prepare for this by strengthening pattern recognition, avoiding diagnostic absolutes, and cultivating referral pathways to support earlier identification and coordinated care.
TAKEAWAYS
This case illustrates the critical role optometrists play in managing complex systemic conditions that manifest in the eye.
Early recognition of AAAS-related ocular complications, proactive tear supplementation, and a targeted treatment regimen can dramatically and successfully improve patient comfort and quality of life, even in those patients who experience lifelong systemic challenges.
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