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A Kolck, HG Koch, H Gerding; Ocular Findings and Development in a Cohort of 21 Patients with Cystathionine Beta-synthase Deficiency . Invest. Ophthalmol. Vis. Sci. 2002;43(13):451.
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Purpose: To analyse the ocular findings of 21 patients with homocystinuria (HCU) caused by cystathionine beta-synthase (CBS)-deficiency with regard to vitamin B6 responder status and to investigate how far ocular complications influenced personal and professional development of patients. Methods: Information was obtained 1. from eye hospital records 2. from current reexaminations of 13 patients over the last 2 years 3. from interviews with patients and/or with parents of patients. Results: Lens dislocation as a typical symptom was found in 20 of 21 patients (95%). 4 patients developed lens dislocation into the anterior chamber. In 52% of cases lens dislocation alone or in combination with other non ophthalmologic symptoms (19%) was the first indicator of HCU. While in vitamin B6-responders (B6-R) the median of first diagnosis was 18.25 years, the median in vitamin B6-partial responders (B6-PR) and non responders (B6-NR) together was 6.5 years. In B6-R the median of first diagnosis of lens dislocation was 8.5 years whereas in B6-PR and B6-NR together the median was 5.25 years. 12 eyes had lens surgery in our department. Vision significantly improved after lens surgery in 9 eyes (75%). In 2 eyes vision did not change. Intraocular pressure increased in 29% of the patients. Retinal detachment occured in one patient on both eyes. One eye was aphakic, in the other eye the lens had already been subluxated into the vitreous body for 17 years. In 14 cases (66.7%) vision was sufficient to attend a regular school. 5 patients attended a school for the ocular disabled. 2 patients were not able to attend a regular school due to mental handicap. 13 patients were able to persue a regular profession or had temporarily persued a regular profession. 7 patients were still too young for an occupation. 5 patients (38.5%) reported that their choice of profession was significantly influenced by their visual handicap. Conclusion: Ocular changes, mainly lens dislocation, can be regarded as important first indicators of HCU. First diagnosis of underlying HCU and first diagnosis of lens dislocation were found earlier in B6-PR and B6-NR than in B6-R. This suggests a significant difference in the time of onset and severity of pathology in B6-R compaired with B6-PR and B6-NR. Lens surgery is likely to improve vision significantly as long as efficient control of perioperative hemostasis is provided. For the majority of our patients it was possible to attend a regular school and to persue a regular profession.
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