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Recurrent dislocation of binocular crystal lenses in a patient with cystathionine beta-synthase deficiency
2021
BMC Ophthalmology
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
doi:10.1186/s12886-021-01974-8
pmid:33985475
fatcat:tjx3p4turzfe5a665gq2ut2fz4