Abstract
RLBP1 (also known as CRALBP) encodes cellular retinaldehyde-binding protein, which acts primarily as an acceptor of 11-cis retinal during the isomerization step of the visual cycle. Mutations in RLBP1 cause Bothnia retinal dystrophy, fundus albipunctatus, Newfoundland rod-cone dystrophy, and retinitis punctata albescens [1].
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References
Eichers ER, Green JS, Stockton DW, Jackman CS, Whelan J, McNamara JA, et al. Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1. Am J Hum Genet. 2002;70(4):955–64.
Fishman GA, Roberts MF, Derlacki DJ, Grimsby JL, Yamamoto H, Sharon D, et al. Novel mutations in the cellular retinaldehyde-binding protein gene (RLBP1) associated with retinitis punctata albescens: evidence of interfamilial genetic heterogeneity and fundus changes in heterozygotes. Arch Ophthalmol. 2004;122(1):70–5.
Demirci FY, Rigatti BW, Mah TS, Gorin MB. A novel compound heterozygous mutation in the cellular retinaldehyde-binding protein gene (RLBP1) in a patient with retinitis punctata albescens. Am J Ophthalmol. 2004;138(1):171–3.
Nakamura M, Lin J, Ito Y, Miyake Y. Novel mutation in RLBP1 gene in a Japanese patient with retinitis punctata albescens. Am J Ophthalmol. 2005;139(6):1133–5.
Morimura H, Berson EL, Dryja TP. Recessive mutations in the RLBP1 gene encoding cellular retinaldehyde-binding protein in a form of retinitis punctata albescens. Invest Ophthalmol Vis Sci. 1999;40(5):1000–4.
Naz S, Ali S, Riazuddin SA, Farooq T, Butt NH, Zafar AU, et al. Mutations in RLBP1 associated with fundus albipunctatus in consanguineous Pakistani families. Br J Ophthalmol. 2011;95(7):1019–24.
Katsanis N, Shroyer NF, Lewis RA, Cavender JC, Al-Rajhi AA, Jabak M, et al. Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1. Clin Genet. 2001;59(6):424–9.
Burstedt MS, Sandgren O, Holmgren G, Forsman-Semb K. Bothnia dystrophy caused by mutations in the cellular retinaldehyde-binding protein gene (RLBP1) on chromosome 15q26. Invest Ophthalmol Vis Sci. 1999;40(5):995–1000.
Burstedt MS, Golovleva I. Central retinal findings in Bothnia dystrophy caused by RLBP1 sequence variation. Arch Ophthalmol. 2010;128(8):989–95.
Burstedt M, Jonsson F, Kohn L, Kivitalo M, Golovleva I. Genotype-phenotype correlations in Bothnia dystrophy caused by RLBP1 gene sequence variations. Acta Ophthalmol. 2013;91(5):437–44.
Nojima K, Hosono K, Zhao Y, Toshiba T, Hikoya A, Asai T, et al. Clinical features of a Japanese case with Bothnia dystrophy. Ophthalmic Genet. 2012;33(2):83–8.
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Zahid, S. et al. (2018). RLBP1 . In: Retinal Dystrophy Gene Atlas. Springer, Cham. https://doi.org/10.1007/978-3-319-10867-4_69
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DOI: https://doi.org/10.1007/978-3-319-10867-4_69
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