Journal article
Recurrent dislocation of binocular crystal lenses in a patient with cystathionine beta-synthase deficiency
BMC ophthalmology, v 21(1), pp 212-212
13 May 2021
PMID: 33985475
Featured in Collection : UN Sustainable Development Goals @ Drexel
Abstract
Ectopia lentis is the common ocular manifestation of homocystinuria resulting from cystathionine beta-synthase (CBS) deficiency which has a high risk of thromboembolic complications.
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.
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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Details
- Title
- Recurrent dislocation of binocular crystal lenses in a patient with cystathionine beta-synthase deficiency
- Creators
- Ning Hua - Tianjin Medical UniversityYuxian Ning - Tianjin Medical UniversityHui Zheng - Tianjin Medical UniversityLedong Zhao - Tianjin Medical University Eye HospitalXuehan Qian - Tianjin Medical UniversityCharles Wormington - Salus UniversityJingyun Wang - SUNY College of Optometry
- Publication Details
- BMC ophthalmology, v 21(1), pp 212-212
- Publisher
- Springer BMC
- Grant note
- TJLCZDXKM001 / Tianjin key clinical discipline (specialty) construction project YDYYRCXM-B2018-02LC / High-level Innovative Talent Program for Distinguished Scholar(CN)
- Resource Type
- Journal article
- Language
- English
- Academic Unit
- [Retired Faculty]; Pennsylvania College of Optometry (PCO)
- Web of Science ID
- WOS:000656259600001
- Scopus ID
- 2-s2.0-85105905911
- Other Identifier
- 991022004630204721
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- Collaboration types
- Domestic collaboration
- International collaboration
- Web of Science research areas
- Ophthalmology