title: Treatment of a retinal dystrophy, fundus albipunctatus, with oral 9-cis-{beta}-carotene.
abstract: 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-beta-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 muV to 292+/-48 muV, p<0.001, t test). No complications or side effects were observed. CONCLUSION Oral treatment with 9-cis-beta-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.
authors: Maurice and Gabriela Goldschleger Eye Research Institute, Sheba Medical Center, Tel-Hashomer 52621, Israel. Ygal.rotenstreich@sheba.health.gov.il
authors: Ygal
authors: Y
authors: Rotenstreich
authors: Dror
authors: D
authors: Harats
authors: Aviv
authors: A
authors: Shaish
authors: Eran
authors: E
authors: Pras
authors: Michael
authors: M
authors: Belkin
mesh_terms: D000284:Administration, Oral; D000293:Adolescent; D000328:Adult; D019587:Dietary Supplements; D004596:Electroretinography; D015785:Eye Diseases, Hereditary / Q000188:drug therapy* / Q000503:physiopathology; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010865:Pilot Projects; D011446:Prospective Studies; D012162:Retinal Degeneration / Q000188:drug therapy* / Q000503:physiopathology; D016896:Treatment Outcome; D014792:Visual Acuity / Q000187:drug effects; D014794:Visual Fields / Q000187:drug effects; D014815:Vitamins / Q000627:therapeutic use*; D055815:Young Adult; D019207:beta Carotene / Q000627:therapeutic use*
chemical_list: D014815:Vitamins; D019207:beta Carotene