Overview
Gene (OMIM no.) |
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Function of gene/protein |
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Clinical phenotype (with OMIM phenotype no.) | |
Inheritance |
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Signs for RP |
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Signs for CSNB |
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Visual function | Retinitis pigmentosa
Congenital stationary night blindness
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Systemic features |
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Key investigations |
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Molecular diagnosis | Next generation sequencing
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Management | |
Therapies under research |
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Further information |
Additional information
Pathogenic mutations in RHO are major causes of AD-RP, accounting for 25-30% of AD-RP cases in White populations[1], while the frequency is much lower among East Asians (2-6.9%)[2-6] and Indians (2%)[7].
Multimodal imaging


References
- Verbakel SK, van Huet RAC, Boon CJF, et al. Non-syndromic retinitis pigmentosa. Prog Retin Eye Res. 2018;66:157-186.
- Koyanagi Y, Akiyama M, Nishiguchi KM, et al. Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients. J Med Genet. 2019;56(10):662-670.
- Kim KJ, Kim C, Bok J, et al. Spectrum of rhodopsin mutations in Korean patients with retinitis pigmentosa. Mol Vis. 2011;17:844-853.
- Li S, Xiao X, Wang P, Guo X, Zhang Q. Mutation spectrum and frequency of the RHO gene in 248 Chinese families with retinitis pigmentosa. Biochem Biophys Res Commun. 2010;401(1):42-47.
- Chan WM, Yeung KY, Pang CP, et al. Rhodopsin mutations in Chinese patients with retinitis pigmentosa. Br J Ophthalmol. 2001;85(9):1046-1048.
- Wang J, Xu D, Zhu T, et al. Identification of two novel RHO mutations in Chinese retinitis pigmentosa patients. Exp Eye Res. 2019;188:107726.
- Gandra M, Anandula V, Authiappan V, et al. Retinitis pigmentosa: mutation analysis of RHO, PRPF31, RP1, and IMPDH1 genes in patients from India. Mol Vis. 2008;14:1105-1113.
- Sullivan LS, Bowne SJ, Birch DG, et al. Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families. Invest Ophthalmol Vis Sci. 2006;47(7):3052-3064.
- Fahim AT, Daiger SP, Weleber RG. Nonsyndromic Retinitis Pigmentosa Overview. In: Adam MP, Ardinger HH, Pagon RA, et al., eds. GeneReviews®. Seattle (WA): University of Washington, Seattle; August 4, 2000.
- Dryja TP, McGee TL, Reichel E, et al. A point mutation of the rhodopsin gene in one form of retinitis pigmentosa. Nature. 1990;343(6256):364-366.
- Inglehearn CF, Keen TJ, Bashir R, et al. A completed screen for mutations of the rhodopsin gene in a panel of patients with autosomal dominant retinitis pigmentosa. Hum Mol Genet. 1992;1(1):41-45.
- Xiao T, Xu K, Zhang X, Xie Y, Li Y. Sector Retinitis Pigmentosa caused by mutations of the RHO gene. Eye (Lond). 2019;33(4):592-599.
- Nguyen XT, Talib M, van Cauwenbergh C, et al. CLINICAL CHARACTERISTICS AND NATURAL HISTORY OF RHO-ASSOCIATED RETINITIS PIGMENTOSA: A Long-Term Follow-Up Study. Retina. 2020.
- Berson EL, Rosner B, Weigel-DiFranco C, Dryja TP, Sandberg MA. Disease progression in patients with dominant retinitis pigmentosa and rhodopsin mutations. Invest Ophthalmol Vis Sci. 2002;43(9):3027-3036.
- Rosenfeld PJ, Cowley GS, McGee TL, Sandberg MA, Berson EL, Dryja TP. A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa. Nat Genet. 1992;1(3):209-213.
- Kumaramanickavel G, Maw M, Denton MJ, et al. Missense rhodopsin mutation in a family with recessive RP. Nat Genet. 1994;8(1):10-11.
- Greenberg J, Roberts L, Ramesar R. A rare homozygous rhodopsin splice-site mutation: the issue of when and whether to offer presymptomatic testing. Ophthalmic Genet. 2003;24(4):225-232.
- Azam M, Khan MI, Gal A, et al. A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa. Mol Vis. 2009;15:2526-2534.
- Zhang N, Kolesnikov AV, Jastrzebska B, et al. Autosomal recessive retinitis pigmentosa E150K opsin mice exhibit photoreceptor disorganization. J Clin Invest. 2013;123(1):121-137.
- Kartasasmita A, Fujiki K, Iskandar E, Sovani I, Fujimaki T, Murakami A. A novel nonsense mutation in rhodopsin gene in two Indonesian families with autosomal recessive retinitis pigmentosa. Ophthalmic Genet. 2011;32(1):57-63.
- Dryja TP, Berson EL, Rao VR, Oprian DD. Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness. Nat Genet. 1993;4(3):280-283.
- Sieving PA, Richards JE, Naarendorp F, Bingham EL, Scott K, Alpern M. Dark-light: model for night blindness from the human rhodopsin Gly-90–>Asp mutation. Proc Natl Acad Sci U S A. 1995;92(3):880-884.
- al-Jandal N, Farrar GJ, Kiang AS, et al. A novel mutation within the rhodopsin gene (Thr-94-Ile) causing autosomal dominant congenital stationary night blindness. Hum Mutat. 1999;13(1):75-81.
- Zeitz C, Gross AK, Leifert D, et al. Identification and functional characterization of a novel rhodopsin mutation associated with autosomal dominant CSNB. Invest Ophthalmol Vis Sci. 2008;49(9):4105-4114.
- McAlear SD, Kraft TW, Gross AK. 1 rhodopsin mutations in congenital night blindness. Adv Exp Med Biol. 2010;664:263-272.