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

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 2...

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Autores principales: Culp, Catherine J., Pappas, Christian M., Toso, Marc, Qu, Phillip, Mamalis, Nick, Hageman, Gregory S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8789523/
https://www.ncbi.nlm.nih.gov/pubmed/35106402
http://dx.doi.org/10.1016/j.ajoc.2022.101266
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author Culp, Catherine J.
Pappas, Christian M.
Toso, Marc
Qu, Phillip
Mamalis, Nick
Hageman, Gregory S.
author_facet Culp, Catherine J.
Pappas, Christian M.
Toso, Marc
Qu, Phillip
Mamalis, Nick
Hageman, Gregory S.
author_sort Culp, Catherine J.
collection PubMed
description 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.
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spelling pubmed-87895232022-01-31 Clinical, histological and genetic findings in a donor with a clinical history of type 1 Autoimmune Polyendocrinopathy Syndrome Culp, Catherine J. Pappas, Christian M. Toso, Marc Qu, Phillip Mamalis, Nick Hageman, Gregory S. Am J Ophthalmol Case Rep Case Report 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. Elsevier 2022-01-20 /pmc/articles/PMC8789523/ /pubmed/35106402 http://dx.doi.org/10.1016/j.ajoc.2022.101266 Text en © 2022 Published by Elsevier Inc. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Culp, Catherine J.
Pappas, Christian M.
Toso, Marc
Qu, Phillip
Mamalis, Nick
Hageman, Gregory S.
Clinical, histological and genetic findings in a donor with a clinical history of type 1 Autoimmune Polyendocrinopathy Syndrome
title Clinical, histological and genetic findings in a donor with a clinical history of type 1 Autoimmune Polyendocrinopathy Syndrome
title_full Clinical, histological and genetic findings in a donor with a clinical history of type 1 Autoimmune Polyendocrinopathy Syndrome
title_fullStr Clinical, histological and genetic findings in a donor with a clinical history of type 1 Autoimmune Polyendocrinopathy Syndrome
title_full_unstemmed Clinical, histological and genetic findings in a donor with a clinical history of type 1 Autoimmune Polyendocrinopathy Syndrome
title_short Clinical, histological and genetic findings in a donor with a clinical history of type 1 Autoimmune Polyendocrinopathy Syndrome
title_sort clinical, histological and genetic findings in a donor with a clinical history of type 1 autoimmune polyendocrinopathy syndrome
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8789523/
https://www.ncbi.nlm.nih.gov/pubmed/35106402
http://dx.doi.org/10.1016/j.ajoc.2022.101266
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