advertisement
Abstract #95249 Published in IGR 22-2
Recurrent dislocation of binocular crystal lenses in a patient with cystathionine beta-synthase deficiency
Hua N; Ning Y; Zheng H; Zhao L; Qian X; Wormington C; Wang JBMC Ophthalmology 2021; 21: 212
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.
Tianjin Key Laboratory of Retinal Functions and Diseases, Tianjin Branch of National Clinical Research Center for Ocular Disease, Eye Institute and School of Optometry, Tianjin Medical University Eye Hospital, No. 251 Fukang Road, Nankai District, Tianjin, China. tian2815@sina.com.
Full article