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.
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.