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The retinal phenotype in primary hyperoxaluria type 2 and 3
BACKGROUND: The primary hyperoxalurias (PH1-3) are rare inherited disorders of the glyoxylate metabolism characterized by endogenous overproduction of oxalate. As oxalate cannot be metabolized by humans, oxalate deposits may affect various organs, primarily the kidneys, bones, heart, and eyes. Visio...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Springer Berlin Heidelberg
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10060347/ https://www.ncbi.nlm.nih.gov/pubmed/36260161 http://dx.doi.org/10.1007/s00467-022-05765-1 |
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author | Birtel, Johannes Diederen, Roselie M. Herrmann, Philipp Kaspar, Sophie Beck, Bodo B. Garrelfs, Sander F. Hoppe, Bernd Charbel Issa, Peter |
author_facet | Birtel, Johannes Diederen, Roselie M. Herrmann, Philipp Kaspar, Sophie Beck, Bodo B. Garrelfs, Sander F. Hoppe, Bernd Charbel Issa, Peter |
author_sort | Birtel, Johannes |
collection | PubMed |
description | BACKGROUND: The primary hyperoxalurias (PH1-3) are rare inherited disorders of the glyoxylate metabolism characterized by endogenous overproduction of oxalate. As oxalate cannot be metabolized by humans, oxalate deposits may affect various organs, primarily the kidneys, bones, heart, and eyes. Vision loss induced by severe retinal deposits is commonly seen in infantile PH1; less frequently and milder retinal alterations are found in non-infantile PH1. Retinal disease has not systematically been investigated in patients with PH2 and PH3. METHODS: A comprehensive ophthalmic examination was performed in 19 genetically confirmed PH2 (n = 7) and PH3 (n = 12) patients (median age 11 years, range 3–59). RESULTS: Median best corrected visual acuity was 20/20. In 18 patients, no retinal oxalate deposits were found. A 30-year-old male with PH2 on maintenance hemodialysis with plasma oxalate (Pox) elevation (> 100 µmol/l; normal < 7.4) demonstrated bilateral drusen-like, hyperreflective deposits which were interpreted as crystallized oxalate. Two siblings of consanguineous parents with PH2 presented with retinal degeneration and vision loss; exome-wide analysis identified a second monogenic disease, NR2E3-associated retinal dystrophy. CONCLUSIONS: Retinal disease manifestation in PH2 and PH3 is rare but mild changes can occur at least in PH2-associated kidney failure. Decline in kidney function associated with elevated plasma oxalate levels could increase the risk of systemic oxalosis. Deep phenotyping combined with genomic profiling is vital to differentiate extrarenal disease in multisystem disorders such as PH from independent inherited (retinal) disease. GRAPHICAL ABSTRACT: [Figure: see text] SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s00467-022-05765-1. |
format | Online Article Text |
id | pubmed-10060347 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Springer Berlin Heidelberg |
record_format | MEDLINE/PubMed |
spelling | pubmed-100603472023-03-31 The retinal phenotype in primary hyperoxaluria type 2 and 3 Birtel, Johannes Diederen, Roselie M. Herrmann, Philipp Kaspar, Sophie Beck, Bodo B. Garrelfs, Sander F. Hoppe, Bernd Charbel Issa, Peter Pediatr Nephrol Original Article BACKGROUND: The primary hyperoxalurias (PH1-3) are rare inherited disorders of the glyoxylate metabolism characterized by endogenous overproduction of oxalate. As oxalate cannot be metabolized by humans, oxalate deposits may affect various organs, primarily the kidneys, bones, heart, and eyes. Vision loss induced by severe retinal deposits is commonly seen in infantile PH1; less frequently and milder retinal alterations are found in non-infantile PH1. Retinal disease has not systematically been investigated in patients with PH2 and PH3. METHODS: A comprehensive ophthalmic examination was performed in 19 genetically confirmed PH2 (n = 7) and PH3 (n = 12) patients (median age 11 years, range 3–59). RESULTS: Median best corrected visual acuity was 20/20. In 18 patients, no retinal oxalate deposits were found. A 30-year-old male with PH2 on maintenance hemodialysis with plasma oxalate (Pox) elevation (> 100 µmol/l; normal < 7.4) demonstrated bilateral drusen-like, hyperreflective deposits which were interpreted as crystallized oxalate. Two siblings of consanguineous parents with PH2 presented with retinal degeneration and vision loss; exome-wide analysis identified a second monogenic disease, NR2E3-associated retinal dystrophy. CONCLUSIONS: Retinal disease manifestation in PH2 and PH3 is rare but mild changes can occur at least in PH2-associated kidney failure. Decline in kidney function associated with elevated plasma oxalate levels could increase the risk of systemic oxalosis. Deep phenotyping combined with genomic profiling is vital to differentiate extrarenal disease in multisystem disorders such as PH from independent inherited (retinal) disease. GRAPHICAL ABSTRACT: [Figure: see text] SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s00467-022-05765-1. Springer Berlin Heidelberg 2022-10-19 2023 /pmc/articles/PMC10060347/ /pubmed/36260161 http://dx.doi.org/10.1007/s00467-022-05765-1 Text en © The Author(s) 2022 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . |
spellingShingle | Original Article Birtel, Johannes Diederen, Roselie M. Herrmann, Philipp Kaspar, Sophie Beck, Bodo B. Garrelfs, Sander F. Hoppe, Bernd Charbel Issa, Peter The retinal phenotype in primary hyperoxaluria type 2 and 3 |
title | The retinal phenotype in primary hyperoxaluria type 2 and 3 |
title_full | The retinal phenotype in primary hyperoxaluria type 2 and 3 |
title_fullStr | The retinal phenotype in primary hyperoxaluria type 2 and 3 |
title_full_unstemmed | The retinal phenotype in primary hyperoxaluria type 2 and 3 |
title_short | The retinal phenotype in primary hyperoxaluria type 2 and 3 |
title_sort | retinal phenotype in primary hyperoxaluria type 2 and 3 |
topic | Original Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10060347/ https://www.ncbi.nlm.nih.gov/pubmed/36260161 http://dx.doi.org/10.1007/s00467-022-05765-1 |
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