Clinical, histological and genetic findings in a donor with a clinical history of type 1 Autoimmune Polyendocrinopathy Syndrome

Abstract

Purpose: Autoimmune Polyendocrinopathy Syndrome (APS) is a rare condition caused by an autoimmune failure of two or more endocrine glands. In this case, we report the ocular findings and correlated histopathology from a human eye donor with a prior clinical history of Type 1 APS. Observations: The 23 year-old patient originally presented with blurred vision at the 20/125 level caused by papilledema of the right eye. Bilateral pigmentary changes in the peripheral retinal were also noted. The patient passed away due to electrolyte abnormalities related to autoimmune illness. Histopathology of the posterior segments documents that these pigmentary changes were caused by pigment deposition around inner retinal vessels with corresponding outer retina atrophy. Postmortem genetic sequence analyses revealed a homozygous R257X (C to T substitution) mutation within exon 6 of the AIRE gene. Conclusions and importance: The retinal findings in Type 1 Autoimmune Polyendocrinopathy Syndrome resemble those observed in individuals with retinitis pigmentosa, suggesting that similar pathological processes occur in both.

Keywords

• Autoimmune polyglandular syndrome
• Addison's disease
• Retinal pigmented epithelium