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Ocular complications of autoimmune polyendocrinopathy syndrome type 1
Benjamin Chang1, Donal Brosnahan, Kathryn McCreery
1Department of Ophthalmology, Our Lady's Hospital for Sick Children, Crumlin, Dublin, Ireland. benchang@eircom.net
Insights
Autoimmune polyendocrinopathy syndrome type 1 (APS1) can cause significant ocular complications, primarily severe dry eye and keratoconjunctivitis. These conditions may lead to corneal scarring and vision loss in affected individuals.
Area of Science:
- Ophthalmology
- Endocrinology
- Autoimmune Diseases
Background:
- Autoimmune polyendocrinopathy syndrome type 1 (APS1) is a rare autoimmune disorder.
- Ocular manifestations of APS1 are not well-documented.
- Understanding these complications is crucial for timely diagnosis and management.
Purpose of the Study:
- To investigate and report the spectrum of ocular complications in patients diagnosed with APS1.
- To highlight the prevalence and severity of eye conditions associated with APS1.
Main Methods:
- Retrospective study of 17 APS1 patients.
- Comprehensive ophthalmic examinations including visual acuity, slit-lamp biomicroscopy, tear film evaluation, and fundus examination.
- Review of clinical manifestations and diagnostic criteria for APS1.
Main Results:
- 35% of patients exhibited corneal changes.
- 12% developed severe keratoconjunctivitis requiring intensive treatment.
- Common findings included reduced tear production (63%), lens opacities (18%), and various refractive errors.
Conclusions:
- Keratoconjunctivitis associated with dry eye is the most frequent and impactful ocular complication of APS1.
- Early detection and management are essential to prevent progressive corneal scarring and vision impairment.
Purpose:
To report the ocular complications in a series of patients with autoimmune polyendocrinopathy syndrome, type 1 (APS1).
Methods:
A retrospective study of 17 patients with APS1 syndrome treated at the department of ophthalmology, Our Lady's Hospital for Sick Children in Crumlin, Dublin, Ireland. All patients had clinical manifestations of the disease in keeping with the diagnostic criteria of APS1. Each patient had a comprehensive ophthalmic history taken and examination, including ocular symptoms, best-corrected visual acuity, slit-lamp biomicroscopy, tear film evaluation, and dilated ophthalmoscopic examination.
Results:
Six of 17 patients (35%) had corneal changes. Two patients (12%) had severe keratoconjunctivitis requiring hospitalization and intensive topical steroids and lubricants. The inflammation resulted in visual acuity reduction in one patient secondary to central corneal scarring. Other ocular findings included reduced tear production, as tested with Schirmers tear strips (63%), lens opacities (18%), hypotrichosis (12%), hypertrichosis (5.9%), anisometropic amblyopia (5.9%), and myopia (5.9%).
Conclusions:
The most common and clinically important ocular manifestation of APS1 was keratoconjunctivitis associated with dry eye. This can result in progressive corneal scarring and vision loss.
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