Poster Presentation The Joint Annual Scientific Meetings of the Endocrine Society of Australia and the Society for Reproductive Biology 2017

Limbal stem cell deficiency in a patient with autoimmune polyglandular syndrome type 1 (#251)

Su H. Hlaing 1 , Kyaw Thura 2 , Vishnu Sannarangappa 3
  1. Department of General Medicine , Caboolture Hospital , Brisbane , Queensland , Australia
  2. Department of Endocrinology and Diabetes, Royal Perth Hospital , Perth , WA , Australia
  3. Department of General Medicine and Endocrinology , Caboolture Hospital , Brisbane , Queensland , Australia


Autoimmune Polyglandular Syndrome (APS) is an autosomal recessive condition caused by a mutation in the Autoimmune Regulatory (AIRE) gene and consists of a constellation of autoimmune manifestations affecting endocrine glands, skin and the eye1,2. Ophthalmic features described in association with APS include keratitis, conjunctivitis, blepharitis, cataract, uveitis and optic neuropathy3,4. Limbal stem cell deficiency LSCD is central to the ocular surface findings APS5,6. The Limbal stem cells (LSC) have a crucial role in maintaining the integrity and in the renewal events of corneal epithelium. LSCD can give rise to the occurrence of persistent corneal defects, epithelial keratinization, conjunctivalization phenomena with the development of newly formed vessels in the corneal tissue, and scarring. All this compromises the corneal physiology, reducing transparency and decreasing vision7,8. Cell-based therapies for the ocular surface and the future use of Induced Pluripotent Stem Cells (IPSCs) to treat LSCD is very encouraging in restoring vision9.

Case report

A 43 year old man with APS-1 presented with dry and blurred vision in both eyes with burning and gritty sensation and intermittent pain and photophobia for past 3 years. He had epiretinal membrane removal both eyes at age 5. He was diagnosed with keratitis at age 20, neovascularization at age 30 and LSCD at age 42. The physical exam revealed visual acuity was 6/60 on right and 6/24 on left eye, corneal conjunctivalization and scarring in both eyes. Visual fields were normal and fundoscopic examination was unremarkable bilaterally. He is on Prednisolone 1% eye drop twice a day, Serum tears, Minocycline eye drop as required and currently awaiting corneal transplantation.


APS-1 is associated with multiple ocular conditions including LSCD. Untreated LSCD can lead to severe pain and blindness, therefore, early recognition and intervention of the disease is necessary.


  1. Nagamine K. Positional cloning of the APECED gene. Nat Genet 1997; 17: 393-8.
  2. Rosatelli MC Meloni A Meloni A. A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients. Hum Genet 1998; 103: 428-34.
  3. Gass JD. The syndrome of keratoconjunctivitis, superficial moniliasis, idiopathic hypoparathyroidism and Addison's disease. Am J Ophthalmol 1962; 54: 660-74.
  4. Chang B Brosnahan D McCreery K. Ocular complications of autoimmune polyendocrinopathy syndrome type 1. J AAPOS 2006; 10: 515-20.
  5. Shah M Holland E Chan CC. Resolution of autoimmune polyglandular syndrome-associated keratopathy with keratolimbal stem cell transplantation: case report and historical literature review. Cornea 2007; 26: 632-5.
  6. Mohammadpour M Javadi MA Karimian F. Limbal stem cell deficiency in the context of autoimmune polyendocrinopathy. Eur J Ophthalmol 2006; 16: 870-2.
  7. Notara M., In sickness and in health: Corneal epithelial stem cell biology, pathology and therapy. Exp. Eye Res. 2010;90:188–195
  8. Osei-Bempong C., The limbal epithelium of the eye—A review of limbal stem cell biology, disease and treatment. Bioessays. 2013;35:211–219.
  9. Ricardo P. Casaroli-Marano Potential Role of Induced Pluripotent Stem Cells (IPSCs) for Cell-Based Therapy of the Ocular Surface J Clin Med. 2015 Feb; 4(2): 318–342.