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Sequential multiple retinal vein occlusions and transient ischemic attack in MTHFR polymorphism and protein S deficiency
BACKGROUND: The C677T variant of the MTHFR (5,10‐Methylenetetrahydrofolate reductase) gene is associated with increased susceptibility to homocystinuria (OMIM#236250), neural tube defects (OMIM#601634), schizophrenia (OMIM#181500), thromboembolism (OMIM#188050), and vascular diseases. Protein S defi...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7336745/ https://www.ncbi.nlm.nih.gov/pubmed/32347013 http://dx.doi.org/10.1002/mgg3.1273 |
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author | Cho, Ahra Ragi, Sara D. Oh, Jin Kyun Lima de Carvalho, Jose Ronaldo Ryu, Joseph Yang, Ber‐Yuh Tsang, Stephen H. |
author_facet | Cho, Ahra Ragi, Sara D. Oh, Jin Kyun Lima de Carvalho, Jose Ronaldo Ryu, Joseph Yang, Ber‐Yuh Tsang, Stephen H. |
author_sort | Cho, Ahra |
collection | PubMed |
description | BACKGROUND: The C677T variant of the MTHFR (5,10‐Methylenetetrahydrofolate reductase) gene is associated with increased susceptibility to homocystinuria (OMIM#236250), neural tube defects (OMIM#601634), schizophrenia (OMIM#181500), thromboembolism (OMIM#188050), and vascular diseases. Protein S deficiency is also associated with an increased risk of thromboembolism from reduced thrombin generation. In this report, we describe the case of a patient who presented with multiple retinal vein occlusions likely caused by an underlying combination of a homozygous MTHFR C677T variant and protein S deficiency. METHODS: We performed 8 years of continuous ophthalmic follow‐up of one patient diagnosed with central retinal vein occlusion. Peripheral blood was collected for metabolic evaluation and hypercoagulability assessment. Targeted gene sequencing was used for genetic diagnosis. Examination of the retinal vasculature was performed through dilated funduscopic examination, digital color fundus and ultrawide‐field color fundus photography, spectral domain optical coherence tomography, and fluorescein angiography. RESULTS: Sequential retinal vein occlusions and a transient ischemic attack were observed during the follow‐up period. Targeted gene sequencing by PCR identified the homozygous MTHFR C677T variant. The metabolic profile indicated low‐protein S activity, high levels of vitamin B6, and LDL cholesterol consistent with her hypercoagulable state. Prescription of low‐dose aspirin and atorvastatin for hypercholesterolemia resulted in no further neovascularization, leakage, or vein occlusion. CONCLUSION: Retinal vein occlusions associated with the MTHFR C677T variant and protein S deficiency may signal impending systemic thromboembolic episodes and warrant aggressive preventative measures. |
format | Online Article Text |
id | pubmed-7336745 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | John Wiley and Sons Inc. |
record_format | MEDLINE/PubMed |
spelling | pubmed-73367452020-07-08 Sequential multiple retinal vein occlusions and transient ischemic attack in MTHFR polymorphism and protein S deficiency Cho, Ahra Ragi, Sara D. Oh, Jin Kyun Lima de Carvalho, Jose Ronaldo Ryu, Joseph Yang, Ber‐Yuh Tsang, Stephen H. Mol Genet Genomic Med Clinical Reports BACKGROUND: The C677T variant of the MTHFR (5,10‐Methylenetetrahydrofolate reductase) gene is associated with increased susceptibility to homocystinuria (OMIM#236250), neural tube defects (OMIM#601634), schizophrenia (OMIM#181500), thromboembolism (OMIM#188050), and vascular diseases. Protein S deficiency is also associated with an increased risk of thromboembolism from reduced thrombin generation. In this report, we describe the case of a patient who presented with multiple retinal vein occlusions likely caused by an underlying combination of a homozygous MTHFR C677T variant and protein S deficiency. METHODS: We performed 8 years of continuous ophthalmic follow‐up of one patient diagnosed with central retinal vein occlusion. Peripheral blood was collected for metabolic evaluation and hypercoagulability assessment. Targeted gene sequencing was used for genetic diagnosis. Examination of the retinal vasculature was performed through dilated funduscopic examination, digital color fundus and ultrawide‐field color fundus photography, spectral domain optical coherence tomography, and fluorescein angiography. RESULTS: Sequential retinal vein occlusions and a transient ischemic attack were observed during the follow‐up period. Targeted gene sequencing by PCR identified the homozygous MTHFR C677T variant. The metabolic profile indicated low‐protein S activity, high levels of vitamin B6, and LDL cholesterol consistent with her hypercoagulable state. Prescription of low‐dose aspirin and atorvastatin for hypercholesterolemia resulted in no further neovascularization, leakage, or vein occlusion. CONCLUSION: Retinal vein occlusions associated with the MTHFR C677T variant and protein S deficiency may signal impending systemic thromboembolic episodes and warrant aggressive preventative measures. John Wiley and Sons Inc. 2020-04-28 /pmc/articles/PMC7336745/ /pubmed/32347013 http://dx.doi.org/10.1002/mgg3.1273 Text en © 2020 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes. |
spellingShingle | Clinical Reports Cho, Ahra Ragi, Sara D. Oh, Jin Kyun Lima de Carvalho, Jose Ronaldo Ryu, Joseph Yang, Ber‐Yuh Tsang, Stephen H. Sequential multiple retinal vein occlusions and transient ischemic attack in MTHFR polymorphism and protein S deficiency |
title | Sequential multiple retinal vein occlusions and transient ischemic attack in MTHFR polymorphism and protein S deficiency |
title_full | Sequential multiple retinal vein occlusions and transient ischemic attack in MTHFR polymorphism and protein S deficiency |
title_fullStr | Sequential multiple retinal vein occlusions and transient ischemic attack in MTHFR polymorphism and protein S deficiency |
title_full_unstemmed | Sequential multiple retinal vein occlusions and transient ischemic attack in MTHFR polymorphism and protein S deficiency |
title_short | Sequential multiple retinal vein occlusions and transient ischemic attack in MTHFR polymorphism and protein S deficiency |
title_sort | sequential multiple retinal vein occlusions and transient ischemic attack in mthfr polymorphism and protein s deficiency |
topic | Clinical Reports |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7336745/ https://www.ncbi.nlm.nih.gov/pubmed/32347013 http://dx.doi.org/10.1002/mgg3.1273 |
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