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Ocular Findings and Development in a Cohort of 21 Patients with Cystathionine Beta-synthase Deficiency

1Kolck A., 2Koch H. G., 3Gerding H.,
1 (Münster)
2Westfälische Wilhelms-Universität Münster, Kinderklinik (Münster)
3Westfälische Wilhelms-Universität Münster, Augenklinik (Münster)

Purpose: To analyse the ocular findings of 21 patients with homocystinuria (HCU) caused by cystathionine beta-synthase (CBS)-deficiency with regard to the vitamin B6-responder status.
Methods: Ophthalmological findings of patients with this disease in the ophthalmology department of Münster were analysed. Additional data were obtained from externally caring ophthalmologists. Metabolic data were received from the pediatric department.
Results: Lens dislocation (subluxation, luxation) as a typical symptom was found in 20 of the 21 patients (95 %). In 52 % of cases lens dislocation (LD) alone was the first indicator of HCU. Age of patients on first diagnosis of HCU and first diagnosis of LD differed among the group of B6-partial responders and B6-non responders together and B6-responders. While in vitamin B6-partial responders (B6-PR) and non responders (B6-NR) together the median of first dignosis was 6.5 years, in vitamin B6-responders (B6-R) the median of first diagnosis was 18.25 years. In B6-PR and B6-NR together the median of first diagnosis of LD was 5.25 years whereas in B6-R the median was 8.5 years. 2 patients presented chronic glaucoma, 5 patients were observed with a situation of acute glaucoma. 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 about 17 years. 12 eyes had lens surgery in our department. Vision improved after lens surgery in 9 eyes (75%). On average vision improved about 2 lines on the reading chart DIN 58220. One patient who underwent lens surgery in another department, developed central artery occlusion 7 days after lens surgery.
Conclusions: 1. Ocular changes, mainly LD can be regarded as important first indicators of HCU. 2. First diagnosis of underlying HCU and first diagnosis of LD were found earlier in B6-PR and B6-NR than in B6-R. 3. Lens surgery is likely to improve vision significantly as long as efficient control of hemostasis and metabolism is provided.