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.
Abstract

Related Concept Videos

Glaucoma: Overview01:25

Glaucoma: Overview

Glaucoma is an eye condition characterized by increased intraocular pressure that damages the retina and optic nerve, leading to irreversible blindness if left untreated. The human eye has various components, including the cornea, iris, pupil, lens, and optic nerve. Aqueous humor is secreted by the epithelium of the ciliary body in the posterior chamber and flows through the trabecular meshwork and canal of Schlemm, maintaining normal intraocular pressure. The trabecular meshwork and the canal...
Angle Closure Glaucoma: Treatment01:28

Angle Closure Glaucoma: Treatment

Angle-closure glaucoma, or closed-angle glaucoma, is an eye condition where the iris bulges out and blocks the iridocorneal angle, resulting in a buildup of aqueous humor and increased intraocular pressure. Immediate medical attention is necessary due to the sudden onset of symptoms. The treatment for angle-closure glaucoma includes short-term and long-term approaches. Short-term treatment involves using eye drops like pilocarpine to lower intraocular pressure by increasing aqueous humor...
Open Angle Glaucoma: Treatment01:27

Open Angle Glaucoma: Treatment

In open-angle glaucoma, the iridocorneal angle remains open, but the trabecular meshwork becomes stiff, slowing down the outflow of aqueous humor. This causes a buildup of aqueous humor in the anterior chamber, leading to a sudden increase in intraocular pressure. The treatment for open-angle glaucoma focuses on reducing the elevated intraocular pressure by either decreasing the secretion of aqueous humor or increasing its outflow.
Drugs such as carbonic anhydrase inhibitors, α2- and...
Graves' Disease I: Introduction01:28

Graves' Disease I: Introduction

Graves' disease is an autoimmune disorder that causes hyperthyroidism, or overactivity of the thyroid gland. It results from autoantibodies called thyroid-stimulating immunoglobulins (TSIs), which bind to thyroid-stimulating hormone (TSH) receptors, leading to overstimulation of hormone production and a hypermetabolic state.EtiologyAlthough considered idiopathic, Graves’ disease has well-established contributing factors. There is a strong genetic component, with increased prevalence in...
Photoreceptors and Visual Pathways01:22

Photoreceptors and Visual Pathways

At the molecular level, visual signals trigger transformations in photopigment molecules, resulting in changes in the photoreceptor cell's membrane potential. The photon's energy level is denoted by its wavelength, with each specific wavelength of visible light associated with a distinct color. The spectral range of visible light, classified as electromagnetic radiation, spans from 380 to 720 nm. Electromagnetic radiation wavelengths exceeding 720 nm fall under the infrared category, whereas...