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Neurotrophic keratitis in autoimmune polyglandular syndrome type 1: a case report. | LitMetric

Neurotrophic keratitis in autoimmune polyglandular syndrome type 1: a case report.

BMC Ophthalmol

Department of Ophthalmology, National Taiwan University Hospital, No. 7, Chung-Shan South Road, Taipei, Taiwan.

Published: January 2021

Background: Autoimmune polyglandular syndrome type 1 (APS-1) is a rare autosomal recessive disease. In patients with APS-1, the most frequently reported ocular manifestations are keratoconjunctivitis with dry eye and retinal degeneration. However, to our knowledge, no research studies have reported the relationship between APS-1 and neurotrophic keratitis (NK). Possible explanations such as limbus cell deficiency being the primary cause of APS-1 keratopathy are not applicable to our unusual case of the patient with APS-1 presenting as ocular surface disease with NK. Our case findings suggest a new explanation for the observed corneal pathology and a potential treatment for these patients.

Case Presentation: A 27-year-old woman was referred to our hospital because of intermittent blurred vision and recalcitrant ocular surface problems in both eyes for many years. She has a history of autoimmune polyglandular syndrome type 1 (APS-1), which includes hypothyroidism, hypoparathyroidism, hypoadrenalism, and hypogonadotropic hypogonadism. In vivo confocal microscopy clearly demonstrated significant degeneration of the sub-basal nerve plexus and stromal nerve bundles in her corneas bilaterally. She was diagnosed with severe NK and ocular surface disease caused by dry eye. Treatment included the application of therapeutic soft contact lenses and punctual occlusion; however, both treatments had a limited effect.

Conclusion: Patients with APS-1 may have ocular surface disease and severe damage to corneal nerves. Regular follow-up and treatment focusing on the regeneration of corneal nerves is particularly important in these patients.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7792334PMC
http://dx.doi.org/10.1186/s12886-020-01770-wDOI Listing

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