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Recurrent dislocation of binocular crystal lenses in a patient with cystathionine beta-synthase deficiency

BACKGROUND: Ectopia lentis is the common ocular manifestation of homocystinuria resulting from cystathionine beta-synthase (CBS) deficiency which has a high risk of thromboembolic complications. CASE PRESENTATION: The present study reports the case of a teenager with recurrent lens dislocation and g...

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Autores principales: Hua, Ning, Ning, Yuxian, Zheng, Hui, Zhao, Ledong, Qian, Xuehan, Wormington, Charles, Wang, Jingyun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8120774/
https://www.ncbi.nlm.nih.gov/pubmed/33985475
http://dx.doi.org/10.1186/s12886-021-01974-8
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author Hua, Ning
Ning, Yuxian
Zheng, Hui
Zhao, Ledong
Qian, Xuehan
Wormington, Charles
Wang, Jingyun
author_facet Hua, Ning
Ning, Yuxian
Zheng, Hui
Zhao, Ledong
Qian, Xuehan
Wormington, Charles
Wang, Jingyun
author_sort Hua, Ning
collection PubMed
description BACKGROUND: Ectopia lentis is the common ocular manifestation of homocystinuria resulting from cystathionine beta-synthase (CBS) deficiency which has a high risk of thromboembolic complications. CASE PRESENTATION: The present study reports the case of a teenager with recurrent lens dislocation and glaucoma. He was diagnosed with CBS deficiency according to a high level of serum homocysteine and compound heterozygous mutations at two different positions on the CBS gene. Antiglaucoma eyedrops and a mydriatic successfully controlled the intraocular pressure, while oral pyridoxine and betaine uptake lowered the serum homocysteine level effectively. CONCLUSIONS: Children with CBS deficiency may suffer from ectopia lentis, glaucoma and/or amblyopia. We firstly discovered a new mutation of CBS c. 697 T > G which had not been reported before. The patient was pyridoxine responsive and well controlled by medicine.
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spelling pubmed-81207742021-05-17 Recurrent dislocation of binocular crystal lenses in a patient with cystathionine beta-synthase deficiency Hua, Ning Ning, Yuxian Zheng, Hui Zhao, Ledong Qian, Xuehan Wormington, Charles Wang, Jingyun BMC Ophthalmol Case Report BACKGROUND: Ectopia lentis is the common ocular manifestation of homocystinuria resulting from cystathionine beta-synthase (CBS) deficiency which has a high risk of thromboembolic complications. CASE PRESENTATION: The present study reports the case of a teenager with recurrent lens dislocation and glaucoma. He was diagnosed with CBS deficiency according to a high level of serum homocysteine and compound heterozygous mutations at two different positions on the CBS gene. Antiglaucoma eyedrops and a mydriatic successfully controlled the intraocular pressure, while oral pyridoxine and betaine uptake lowered the serum homocysteine level effectively. CONCLUSIONS: Children with CBS deficiency may suffer from ectopia lentis, glaucoma and/or amblyopia. We firstly discovered a new mutation of CBS c. 697 T > G which had not been reported before. The patient was pyridoxine responsive and well controlled by medicine. BioMed Central 2021-05-13 /pmc/articles/PMC8120774/ /pubmed/33985475 http://dx.doi.org/10.1186/s12886-021-01974-8 Text en © The Author(s) 2021 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/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Case Report
Hua, Ning
Ning, Yuxian
Zheng, Hui
Zhao, Ledong
Qian, Xuehan
Wormington, Charles
Wang, Jingyun
Recurrent dislocation of binocular crystal lenses in a patient with cystathionine beta-synthase deficiency
title Recurrent dislocation of binocular crystal lenses in a patient with cystathionine beta-synthase deficiency
title_full Recurrent dislocation of binocular crystal lenses in a patient with cystathionine beta-synthase deficiency
title_fullStr Recurrent dislocation of binocular crystal lenses in a patient with cystathionine beta-synthase deficiency
title_full_unstemmed Recurrent dislocation of binocular crystal lenses in a patient with cystathionine beta-synthase deficiency
title_short Recurrent dislocation of binocular crystal lenses in a patient with cystathionine beta-synthase deficiency
title_sort recurrent dislocation of binocular crystal lenses in a patient with cystathionine beta-synthase deficiency
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8120774/
https://www.ncbi.nlm.nih.gov/pubmed/33985475
http://dx.doi.org/10.1186/s12886-021-01974-8
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