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

Abstract

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.

Keywords: Autoimmune polyglandular syndrome type 1 (APS-1); Case report; In vivo confocal microscopy; Neurotrophic keratitis.

Fig. 1

Alopecia was found

Fig. 2

External eye photographs. On the first day visiting our clinic, slit-lamp examination with fluorescein staining revealed 2 patches of corneal erosions on the right eye (a), and diffuse superficial punctate corneal erosions with filaments on the left eye (b). Two months after treatment with lubricants, diffuse superficial punctate corneal erosions with filaments were found on the right eye (c), and 2 patches of corneal erosions were found in the left eye (d). Four months after treatment, there was 1 patch of corneal erosion in the right eye (e), and filamentary keratitis in the left eye (f)

Fig. 3

In vivo confocal microscopy findings of the cornea. a, b Squamous epithelial layer. White arrows indicate the elongated squamous epithelial cells with a tendency to slough off. c, d White arrows indicate the sub-basal nerve plexus, which was either tortuous and beading in the right eye (c), or short and fragmented in the left eye (d). The density of the nerve plexus was also severely affected. e, f White arrows indicate the corneal nerve bundle in the anterior stromal layer. Both eyes showed a significant decrease in the width, density, and length of the anterior corneal stromal nerve bundles compared with normal eyes