Treatment of a retinal dystrophy, fundus albipunctatus, with oral 9-cis- -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.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
9-cis-β-carotene is not accepted as a treatment for patients with fundus albipunctatus because no further studies on bigger cohorts were performed.
“However, no further studies on bigger cohorts were performed, and, therefore, 9-cis-β-carotene is not accepted as a treatment for patients with fundus albipunctatus [145].”
From The Role of Vitamin A in Retinal Diseases (2022) · cites this paper as [145]
Administration of 9-cis-β-carotene in a small group of patients with fundus albipunctatus showed promising results.
“Administration of 9-cis-β-carotene in a small group of patients with fundus albipunctatus showed promising results.”
From The Role of Vitamin A in Retinal Diseases (2022) · cites this paper as [145]
Cites
Safety and Efficacy of Gene Transfer for Leber's Congenital Amaurosis
Maguire, A. M., Simonelli, F., Pierce, E. A., Pugh, E. N., Mingozzi, F., Bennicelli, J., Banfi, S., Marshall, K. A., Testa, F., Surace, E. M., et al. (2008) · New England Journal of Medicine · doi:10.1056/nejmoa0802315 · Cited by 2,145 · see citing works
Effect of gene therapy on visual function in Leber’s congenital amaurosis
Bainbridge, J. W. B., Smith, A. J., Barker, S. S., Robbie, S., Henderson, R., Balaggan, K., Viswanathan, A., Holder, G. E., Stockman, A., Tyler, N., et al. (2008) · New England Journal of Medicine · doi:10.1056/nejmoa0802268 · Cited by 1,924 · see citing works
9-cis retinoic acid is a high affinity ligand for the retinoid X receptor
Heyman, R. A., Mangelsdorf, D. J., Dyck, J. A., Stein, R. B., Eichele, G., Evans, R. M., & Thaller, C. (1992) · Cell · doi:10.1016/0092-8674(92)90479-v · Cited by 1,780 · see citing works
The Molecular Basis of Visual Excitation
WALD, G. (1968) · Nature · doi:10.1038/219800a0 · Cited by 824 · see citing works
Radu, R. A., Mata, N. L., Nusinowitz, S., Liu, X., Sieving, P. A., & Travis, G. H. (2003) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0737855100 · Cited by 227 · see citing works
Noninvasive two-photon imaging reveals retinyl ester storage structures in the eye
Imanishi, Y., Batten, M. L., Piston, D. W., Baehr, W., & Palczewski, K. (2004) · The Journal of Cell Biology · doi:10.1083/jcb.200311079 · Cited by 194 · see citing works
Recovery of Visual Functions in a Mouse Model of Leber Congenital Amaurosis
Van Hooser, J. P., Liang, Y., Maeda, T., Kuksa, V., Jang, G.-F., He, Y.-G., Rieke, F., Fong, H. K. W., Detwiler, P. B., & Palczewski, K. (2002) · Journal of Biological Chemistry · doi:10.1074/jbc.m112384200 · Cited by 154 · see citing works
Flagged first, then by citations
Cited by
Sorted by citations
The Role of Vitamin A in Retinal Diseases
Sajovic, J., Meglič, A., Glavač, D., Markelj, Š., Hawlina, M., & Fakin, A. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms23031014 · Cited by 109 · see citing works
Vitamin A derivatives as treatment options for retinal degenerative diseases
Perusek, L., & Maeda, T. (2013) · Nutrients · doi:10.3390/nu5072646 · Cited by 60 · see citing works
Dietary 9-cis-β,β-Carotene Fails to Rescue Vision in Mouse Models of Leber Congenital Amaurosis
Maeda, T., Perusek, L., Amengual, J., Babino, D., Palczewski, K., & von Lintig, J. (2011) · Molecular Pharmacology · doi:10.1124/mol.111.074732 · Cited by 37 · see citing works
<i>RDH5</i> -Related Fundus Albipunctatus in a Large Japanese Cohort
Katagiri, S., Hayashi, T., Nakamura, M., Mizobuchi, K., Gekka, T., Komori, S., Ueno, S., Terasaki, H., Sakuramoto, H., Kuniyoshi, K., et al. (2020) · Investigative Opthalmology & Visual Science · doi:10.1167/iovs.61.3.53 · Cited by 33 · see citing works
Caruso, R. C., Aleman, T. S., Cideciyan, A. V., Roman, A. J., Sumaroka, A., Mullins, C. L., Boye, S. L., Hauswirth, W. W., & Jacobson, S. G. (2010) · Investigative Opthalmology & Visual Science · doi:10.1167/iovs.10-5559 · Cited by 26 · see citing works
A homozygous frameshift mutation in LRAT causes retinitis punctata albescens
Littink, K. W., van Genderen, M. M., van Schooneveld, M. J., Visser, L., Riemslag, F. C. C., Keunen, J. E. E., Bakker, B., Zonneveld, M. N., den Hollander, A. I., Cremers, F. P. M., et al. (2012) · Ophthalmology · doi:10.1016/j.ophtha.2012.02.037 · Cited by 3 · see citing works
- Authors
- Rotenstreich, Y., Harats, D., Shaish, A., Pras, E., & Belkin, M.
- Affiliations
- Sheba Medical Center (IL)
- Tel Aviv University (IL)
- Corresponding author
- Rotenstreich, Y.
- Venue
- British Journal of Ophthalmology
- Publisher
- BMJ
- Published
- 2009-12-02
- Volume
- 94
- Issue
- 5
- Pages
- 616-621
- ISSN
- 0007-1161 (ISSN-L)
- OpenAlex
- W2142330001
- Cited by
- 51
- References
- 7
- Citations by year
- 2026: 1 · 2025: 1 · 2024: 3 · 2023: 2 · 2022: 3 · 2021: 2 · 2020: 3 · 2019: 5 · 2018: 4 · 2017: 1 · 2016: 4 · 2015: 4 · 2014: 1 · 2013: 6 · 2012: 7
- FWCI
- 1.47
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- British Journal of Ophthalmology (publishedVersion)
- PubMed (publishedVersion)
- HighWire Press Open Archive (submittedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Retinal Development and Disorders
- Health Sciences › Medicine › Ophthalmology › Retinal Diseases and Treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Retinoids in leukemia and cellular processes
- Keywords
- fundus albipunctatus, retinal dystrophy, 9-cis-retinal, 9-cis beta-carotene, night blindness, peripheral visual field, electroretinogram, scotopic b-wave, retinitis pigmentosa, dietary supplementation
- MeSH terms
- Administration, Oral, Adolescent, Adult, Electroretinography, Female, Humans, Male, Middle Aged, Pilot Projects, Prospective Studies, Retinal Degeneration, Visual Acuity, Visual Fields, Vitamins, Eye Diseases, Hereditary, Treatment Outcome, beta Carotene, Dietary Supplements, Young Adult
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
