Background Fundus albipunctatus is a retinal dystrophy caused by a mutation in the gene encoding 11-cis-retinol dehydrogenase which delays the recovery of rod photoreceptor cells from light stimulation leading to night blindness. A recent study of a mouse model of fundus albipunctatus treated with 9-cis-retinal showed an improvement in visual function and structure.
Methods Seven patients with fundus albipunctatus were given a daily food supplement of four capsules containing high-dose 9-cis-β-carotene for 90 days. The subjects were tested before and after treatment by visual field and electroretinogram in both eyes. This non-randomised prospective phase I study was registered at http://www.clinicaltrials.gov (NCT00478530).
Results All patients showed significant improvements in peripheral visual field (mean deviation improved from −4.77±2.0 to −3.28±2.28, p=0.009, t test) and a highly significant improvement in rod recovery rates measured electroretinographically (maximal scotopic b-wave amplitude responses, improved from 197±49 μV to 292±48 μV, p<0.001, t test). No complications or side effects were observed.
Conclusion Oral treatment with 9-cis-β-carotene led to reversal of a human retinal dystrophy. This potential therapy is readily available and should be evaluated in retinal dystrophies of similar mechanisms such as various types of retinitis pigmentosa.
- treatment medical
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DH & MB contributed equally to this work.
Funding Maratier Fund.
Competing interests Tel-Hashomer Medical Center applied for a patent for the ophthalmic uses of the compound tested.
Patient consent Obtained.
Ethics approval Ethics approval was provided by the Sheba Medical Center Institutional Review (Helsinki) Committee.
Provenance and peer review Not commissioned; externally peer reviewed.