Recurrent dislocation of binocular crystal lenses in a patient with cystathionine beta-synthase deficiency release_tjx3p4turzfe5a665gq2ut2fz4

Abstract

<jats:title>Abstract</jats:title><jats:sec> <jats:title>Background</jats:title> Ectopia lentis is the common ocular manifestation of homocystinuria resulting from cystathionine beta-synthase (CBS) deficiency which has a high risk of thromboembolic complications. </jats:sec><jats:sec> <jats:title>Case presentation</jats:title> 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. </jats:sec><jats:sec> <jats:title>Conclusions</jats:title> Children with CBS deficiency may suffer from ectopia lentis, glaucoma and/or amblyopia. We firstly discovered a new mutation of CBS c. 697 T &gt; G which had not been reported before. The patient was pyridoxine responsive and well controlled by medicine. </jats:sec>
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