Mutations in RDH5 associated with fundus albipunctatus seem to prevent normal lipofuscin accumulation. A relatively good functional status of 2 of 3 adult patients indicates that interference with 11-cis retinol dehydrogenase function may be a promising strategy for therapeutic intervention in retinal disorders featuring excessive lipofuscin accumulation.

There is still no evidence that open reduction and internal fixation of calcaneal fractures results in better outcomes than conservative therapy. This has been confirmed by our long-term results that provided disillusioning results: in a small population, only 55 % of the patients showed very good or good clinical overall results. Furthermore, SF-36 showed impaired physical subscores, which correlated significantly with the AOFAS.

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Background: The aim of this prospective study was to evaluate and analyse the first clinical results of a recently developed low-profile anatomic plate in combination with two headless compression screws for tibiotalar arthrodesis. Methods: The case series involved 20 consecutive patients who underwent ankle arthrodesis using a hybrid technique. Radiographs were obtained at 6 and 12 weeks and 1 year postoperatively. The outcome was evaluated by using AOFAS and SF 12-questionnaire. Any complications related to the arthrodesis were recorded. Results: The follow-up rate was 100%. Patients mean age at the time of surgery was 60.1 years (range, 40-79). Arthrodesis with full weight-bearing occurred in every patient within 12 weeks postoperatively. There were no patients with delayed union, non-union, infection or implant failure. AOFAS Score and SF-12 scores increased considerably compared to preoperatively. Conclusion: The hybrid technique for ankle arthrodesis is a tibiotalar compression with screws in combination with rigid anterior plate fixation. Our clinical results demonstrated no implant failure, no infection and fusion in any of the 20 patients. Further studies are necessary to support our first results.

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