Recurrent dislocation of binocular crystal lenses in a patient with cystathionine beta-synthase deficiency
| Autor: | Hui Zheng, Ning Hua, Charles Wormington, Jingyun Wang, Xuehan Qian, Yuxian Ning, Ledong Zhao |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
inorganic chemicals
Male 0301 basic medicine congenital hereditary and neonatal diseases and abnormalities Intraocular pressure medicine.medical_specialty genetic structures Adolescent Cystathionine beta-synthase (CBS) Cystathionine beta-Synthase Glaucoma Case Report Homocystinuria Compound heterozygosity Lens ectopia Ectopia Lentis 03 medical and health sciences chemistry.chemical_compound 0302 clinical medicine Betaine Ophthalmology medicine Humans Child Ectopia lentis biology business.industry nutritional and metabolic diseases Pyridoxine General Medicine RE1-994 medicine.disease Cystathionine beta synthase eye diseases 030104 developmental biology chemistry Mutation biology.protein business 030217 neurology & neurosurgery medicine.drug |
| Zdroj: | BMC Ophthalmology BMC Ophthalmology, Vol 21, Iss 1, Pp 1-6 (2021) |
| ISSN: | 1471-2415 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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