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The National Institutes of Health recommends high daily doses of vitamin A palmitate for RP patients. There is a critical knowledge gap surrounding the therapeutic applicability of vitamin A to patients with the different subtypes of the disease. Here, we present a case report of a patient with RP caused by a p.D190N mutation in Rhodopsin (RHO) associated with abnormally high quantitative autofluorescence values after long-term vitamin A supplementation. We investigated the effects of vitamin A treatment strategy on RP caused by the p.D190N mutation in RHO by exposing Rhodopsin p.D190N (RhoD190N\/+) and wild-type (WT) mice to experimental vitamin A-supplemented and standard control diets. The patient\u2019s case suggests that the vitamin A treatment strategy should be further studied to determine its effect on RP caused by p.D190N mutation in RHO and other mutations. Our mouse experiments revealed that RhoD190N\/+ mice on the vitamin A diet exhibited higher levels of autofluorescence and lipofuscin metabolites compared to WT mice on the same diet and isogenic controls on the standard control diet. Vitamin A supplementation diminished photoreceptor function in RhoD190N\/+ mice while preserving cone response in WT mice. Our findings highlight the importance of more investigations into the efficacy of clinical treatments like vitamin A for patients with certain genetic subtypes of disease and of genotyping in the precision care of inherited retinal degenerations.<\/jats:p>","DOI":"10.1093\/hmg\/ddac032","type":"journal-article","created":{"date-parts":[[2022,2,21]],"date-time":"2022-02-21T20:25:53Z","timestamp":1645475153000},"page":"2438-2451","source":"Crossref","is-referenced-by-count":13,"title":["Long-term vitamin A supplementation in a preclinical mouse model for<i>RhoD190N<\/i>-associated retinitis pigmentosa"],"prefix":"10.1093","volume":"31","author":[{"given":"Xuan","family":"Cui","sequence":"first","affiliation":[{"name":"Jonas Children\u2019s Vision Care , and the Bernard and Shirlee Brown Glaucoma Laboratory, Department of Ophthalmology, , New York, NY 10032, USA"},{"name":"Columbia University , and the Bernard and Shirlee Brown Glaucoma Laboratory, Department of Ophthalmology, , New York, NY 10032, USA"},{"name":"Department of Ophthalmology , Edward S. Harkness Eye Institute, , New York, NY 10032, USA"},{"name":"New York-Presbyterian Hospital , Edward S. Harkness Eye Institute, , New York, NY 10032, USA"},{"name":"School of Optometry and Ophthalmology , Tianjin Medical University Eye Institute, Tianjin Medical University Eye Hospital, , Tianjin 300384, China"},{"name":"Tianjin Medical University , Tianjin Medical University Eye Institute, Tianjin Medical University Eye Hospital, , Tianjin 300384, China"},{"name":"Columbia Stem Cell Initiative, Columbia University , New York, NY 10032, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hye Jin","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology , Edward S. Harkness Eye Institute, , New York, NY 10032, USA"},{"name":"New York-Presbyterian Hospital , Edward S. Harkness Eye Institute, , New York, NY 10032, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chia-Hua","family":"Cheng","sequence":"additional","affiliation":[{"name":"Jonas Children\u2019s Vision Care , and the Bernard and Shirlee Brown Glaucoma Laboratory, Department of Ophthalmology, , New York, NY 10032, USA"},{"name":"Columbia University , and the Bernard and Shirlee Brown Glaucoma Laboratory, Department of Ophthalmology, , New York, NY 10032, USA"},{"name":"Department of Ophthalmology , Edward S. Harkness Eye Institute, , New York, NY 10032, USA"},{"name":"New York-Presbyterian Hospital , Edward S. Harkness Eye Institute, , New York, NY 10032, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura A","family":"Jenny","sequence":"additional","affiliation":[{"name":"Jonas Children\u2019s Vision Care , and the Bernard and Shirlee Brown Glaucoma Laboratory, Department of Ophthalmology, , New York, NY 10032, USA"},{"name":"Columbia University , and the Bernard and Shirlee Brown Glaucoma Laboratory, Department of Ophthalmology, , New York, NY 10032, USA"},{"name":"Department of Ophthalmology , Edward S. Harkness Eye Institute, , New York, NY 10032, USA"},{"name":"New York-Presbyterian Hospital , Edward S. Harkness Eye Institute, , New York, NY 10032, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"suffix":"Jr","given":"Jose Ronaldo","family":"Lima de Carvalho","sequence":"additional","affiliation":[{"name":"Jonas Children\u2019s Vision Care , and the Bernard and Shirlee Brown Glaucoma Laboratory, Department of Ophthalmology, , New York, NY 10032, USA"},{"name":"Columbia University , and the Bernard and Shirlee Brown Glaucoma Laboratory, Department of Ophthalmology, , New York, NY 10032, USA"},{"name":"Department of Ophthalmology , Edward S. Harkness Eye Institute, , New York, NY 10032, USA"},{"name":"New York-Presbyterian Hospital , Edward S. Harkness Eye Institute, , New York, NY 10032, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ya-Ju","family":"Chang","sequence":"additional","affiliation":[{"name":"Jonas Children\u2019s Vision Care , and the Bernard and Shirlee Brown Glaucoma Laboratory, Department of Ophthalmology, , New York, NY 10032, USA"},{"name":"Columbia University , and the Bernard and Shirlee Brown Glaucoma Laboratory, Department of Ophthalmology, , New York, NY 10032, USA"},{"name":"Department of Ophthalmology , Edward S. Harkness Eye Institute, , New York, NY 10032, USA"},{"name":"New York-Presbyterian Hospital , Edward S. Harkness Eye Institute, , New York, NY 10032, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yang","family":"Kong","sequence":"additional","affiliation":[{"name":"Jonas Children\u2019s Vision Care , and the Bernard and Shirlee Brown Glaucoma Laboratory, Department of Ophthalmology, , New York, NY 10032, USA"},{"name":"Columbia University , and the Bernard and Shirlee Brown Glaucoma Laboratory, Department of Ophthalmology, , New York, NY 10032, USA"},{"name":"Department of Ophthalmology , Edward S. Harkness Eye Institute, , New York, NY 10032, USA"},{"name":"New York-Presbyterian Hospital , Edward S. Harkness Eye Institute, , New York, NY 10032, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chun-Wei","family":"Hsu","sequence":"additional","affiliation":[{"name":"Jonas Children\u2019s Vision Care , and the Bernard and Shirlee Brown Glaucoma Laboratory, Department of Ophthalmology, , New York, NY 10032, USA"},{"name":"Columbia University , and the Bernard and Shirlee Brown Glaucoma Laboratory, Department of Ophthalmology, , New York, NY 10032, USA"},{"name":"Department of Ophthalmology , Edward S. Harkness Eye Institute, , New York, NY 10032, USA"},{"name":"New York-Presbyterian Hospital , Edward S. Harkness Eye Institute, , New York, NY 10032, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I-Wen","family":"Huang","sequence":"additional","affiliation":[{"name":"Jonas Children\u2019s Vision Care , and the Bernard and Shirlee Brown Glaucoma Laboratory, Department of Ophthalmology, , New York, NY 10032, USA"},{"name":"Columbia University , and the Bernard and Shirlee Brown Glaucoma Laboratory, Department of Ophthalmology, , New York, NY 10032, USA"},{"name":"Department of Ophthalmology , Edward S. Harkness Eye Institute, , New York, NY 10032, USA"},{"name":"New York-Presbyterian Hospital , Edward S. Harkness Eye Institute, , New York, NY 10032, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara D","family":"Ragi","sequence":"additional","affiliation":[{"name":"Jonas Children\u2019s Vision Care , and the Bernard and Shirlee Brown Glaucoma Laboratory, Department of Ophthalmology, , New York, NY 10032, USA"},{"name":"Columbia University , and the Bernard and Shirlee Brown Glaucoma Laboratory, Department of Ophthalmology, , New York, NY 10032, USA"},{"name":"Department of Ophthalmology , Edward S. Harkness Eye Institute, , New York, NY 10032, USA"},{"name":"New York-Presbyterian Hospital , Edward S. Harkness Eye Institute, , New York, NY 10032, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chyuan-Sheng","family":"Lin","sequence":"additional","affiliation":[{"name":"Department of Pathology and Cell Biology, Columbia University Medical Center , New York, NY 10032, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaorong","family":"Li","sequence":"additional","affiliation":[{"name":"School of Optometry and Ophthalmology , Tianjin Medical University Eye Institute, Tianjin Medical University Eye Hospital, , Tianjin 300384, China"},{"name":"Tianjin Medical University , Tianjin Medical University Eye Institute, Tianjin Medical University Eye Hospital, , Tianjin 300384, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janet R","family":"Sparrow","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology , Edward S. Harkness Eye Institute, , New York, NY 10032, USA"},{"name":"New York-Presbyterian Hospital , Edward S. Harkness Eye Institute, , New York, NY 10032, USA"},{"name":"Columbia Stem Cell Initiative, Columbia University , New York, NY 10032, USA"},{"name":"Department of Pathology and Cell Biology, Columbia University Medical Center , New York, NY 10032, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9082-2427","authenticated-orcid":false,"given":"Stephen H","family":"Tsang","sequence":"additional","affiliation":[{"name":"Jonas Children\u2019s Vision Care , and the Bernard and Shirlee Brown Glaucoma Laboratory, Department of Ophthalmology, , New York, NY 10032, USA"},{"name":"Columbia University , and the Bernard and Shirlee Brown Glaucoma Laboratory, Department of Ophthalmology, , New York, NY 10032, USA"},{"name":"Department of Ophthalmology , Edward S. Harkness Eye Institute, , New York, NY 10032, USA"},{"name":"New York-Presbyterian Hospital , Edward S. Harkness Eye Institute, , New York, NY 10032, USA"},{"name":"Columbia Stem Cell Initiative, Columbia University , New York, NY 10032, USA"},{"name":"Department of Pathology and Cell Biology, Columbia University Medical Center , New York, NY 10032, USA"},{"name":"Institute of Human Nutrition, Columbia University , New York, NY 10032, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2022,2,23]]},"reference":[{"key":"2022072612092415600_ref1","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1001\/archopht.125.2.151","article-title":"Perspective on genes and mutations causing retinitis pigmentosa","volume":"125","author":"Daiger","year":"2007","journal-title":"Arch. Ophthalmol."},{"key":"2022072612092415600_ref2","doi-asserted-by":"crossref","DOI":"10.1101\/cshperspect.a017129","article-title":"Genes and mutations causing autosomal dominant retinitis pigmentosa","volume":"5","author":"Daiger","year":"2015","journal-title":"Cold Spring Harb. Perspect. Med."},{"key":"2022072612092415600_ref3","doi-asserted-by":"crossref","first-page":"10712","DOI":"10.1038\/s41598-019-47251-z","article-title":"Multimodal structural disease progression of retinitis pigmentosa according to mode of inheritance","volume":"9","author":"Jauregui","year":"2019","journal-title":"Sci. Rep."},{"key":"2022072612092415600_ref4","doi-asserted-by":"crossref","first-page":"1421","DOI":"10.1016\/j.ophtha.2018.04.001","article-title":"Clustered regularly interspaced short palindromic repeats-based genome surgery for the treatment of autosomal dominant retinitis pigmentosa","volume":"125","author":"Tsai","year":"2018","journal-title":"Ophthalmology"},{"key":"2022072612092415600_ref5","first-page":"1873","article-title":"Macular pigment and lutein supplementation in retinitis pigmentosa and Usher syndrome","volume":"42","author":"Aleman","year":"2001","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"2022072612092415600_ref6","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1097\/00004397-200010000-00008","article-title":"Nutrition and retinal degenerations","volume":"40","author":"Berson","year":"2000","journal-title":"Int. Ophthalmol. Clin."},{"key":"2022072612092415600_ref7","doi-asserted-by":"crossref","first-page":"600","DOI":"10.1016\/S0006-291X(86)80215-7","article-title":"Decreased content of docosahexaenoate and arachidonate in plasma phospholipids in Usher's syndrome","volume":"141","author":"Bazan","year":"1986","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"2022072612092415600_ref8","first-page":"2596","article-title":"Plasma docosahexaenoic acid levels in various genetic forms of retinitis pigmentosa","volume":"33","author":"Gong","year":"1992","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"2022072612092415600_ref9","doi-asserted-by":"crossref","first-page":"761","DOI":"10.1001\/archopht.1993.01090060049022","article-title":"A randomized trial of vitamin A and vitamin E supplementation for retinitis pigmentosa","volume":"111","author":"Berson","year":"1993","journal-title":"Arch. Ophthalmol."},{"key":"2022072612092415600_ref10","doi-asserted-by":"crossref","first-page":"3821","DOI":"10.1167\/iovs.07-1470","article-title":"Accelerated accumulation of lipofuscin pigments in the RPE of a mouse model for ABCA4-mediated retinal dystrophies following vitamin A supplementation","volume":"49","author":"Radu","year":"2008","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"2022072612092415600_ref11","doi-asserted-by":"crossref","first-page":"490","DOI":"10.1001\/jamaophthalmol.2018.0590","article-title":"Association of vitamin A supplementation with disease course in children with retinitis pigmentosa","volume":"136","author":"Berson","year":"2018","journal-title":"JAMA Ophthalmol."},{"key":"2022072612092415600_ref12","doi-asserted-by":"crossref","first-page":"1417","DOI":"10.1001\/archopht.119.10.1417","article-title":"A randomized, placebo-controlled, clinical trial of high-dose supplementation with vitamins C and E, beta carotene, and zinc for age-related macular degeneration and vision loss: AREDS report no. 8","volume":"119","author":"Age-Related Eye Disease Study Research Group","year":"2001","journal-title":"Arch. Ophthalmol."},{"key":"2022072612092415600_ref13","doi-asserted-by":"crossref","first-page":"1461","DOI":"10.1001\/archopht.1993.01090110018005","article-title":"A randomized trial of vitamin A and vitamin E supplementation for retinitis pigmentosa","volume":"111","author":"Clowes","year":"1993","journal-title":"Arch. Ophthalmol."},{"key":"2022072612092415600_ref14","doi-asserted-by":"crossref","first-page":"1460","DOI":"10.1001\/archopht.1993.01090110018004","article-title":"A randomized trial of vitamin A and vitamin E supplementation for retinitis pigmentosa","volume":"111","author":"Marmor","year":"1993","journal-title":"Arch. Ophthalmol."},{"key":"2022072612092415600_ref15","doi-asserted-by":"crossref","first-page":"132","DOI":"10.1111\/cge.12203","article-title":"Genes and mutations causing retinitis pigmentosa","volume":"84","author":"Daiger","year":"2013","journal-title":"Clin. Genet."},{"key":"2022072612092415600_ref16","doi-asserted-by":"crossref","first-page":"338","DOI":"10.1007\/s10384-021-00824-w","article-title":"Regional differences in genes and variants causing retinitis pigmentosa in Japan","volume":"65","author":"Koyanagi","year":"2021","journal-title":"Jpn. J. Ophthalmol."},{"key":"2022072612092415600_ref17","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s00439-013-1358-4","article-title":"The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine","volume":"133","author":"Stenson","year":"2014","journal-title":"Hum. Genet."},{"key":"2022072612092415600_ref18","doi-asserted-by":"crossref","first-page":"1014","DOI":"10.1080\/02713680802484645","article-title":"Phenotype-genotype correlations in autosomal dominant retinitis pigmentosa caused by RHO, D190N","volume":"33","author":"Tsui","year":"2008","journal-title":"Curr. Eye Res."},{"key":"2022072612092415600_ref19","doi-asserted-by":"crossref","first-page":"549","DOI":"10.2119\/molmed.2011.00475","article-title":"Mice with a D190N mutation in the gene encoding rhodopsin: a model for human autosomal-dominant retinitis pigmentosa","volume":"18","author":"Sancho-Pelluz","year":"2012","journal-title":"Mol. Med."},{"key":"2022072612092415600_ref20","doi-asserted-by":"crossref","first-page":"23033","DOI":"10.1073\/pnas.2010417117","article-title":"Dark noise and retinal degeneration from D190N-rhodopsin","volume":"117","author":"Silverman","year":"2020","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"2022072612092415600_ref21","doi-asserted-by":"crossref","first-page":"26645","DOI":"10.1016\/S0021-9258(19)74360-9","article-title":"Rhodopsin mutations responsible for autosomal dominant retinitis pigmentosa. Clustering of functional classes along the polypeptide chain","volume":"268","author":"Sung","year":"1993","journal-title":"J. Biol. 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Horm."},{"key":"2022072612092415600_ref27","doi-asserted-by":"crossref","first-page":"240","DOI":"10.1159\/000027498","article-title":"Indocyanine green angiography in fundus flavimaculatus","volume":"214","author":"Schwoerer","year":"2000","journal-title":"Ophthalmologica"},{"key":"2022072612092415600_ref28","doi-asserted-by":"crossref","first-page":"639","DOI":"10.1006\/exer.1997.0367","article-title":"Lipofuscin in the retina: quantitative assay for an unprecedented autofluorescent compound (pyridinium bis-retinoid, A2-E) of ocular age pigment","volume":"65","author":"Reinboth","year":"1997","journal-title":"Exp. 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