Kamde SP, Anjankar A. Retinitis pigmentosa: pathogenesis, diagnostic findings, and treatment. Cureus. 2023;15(10):e48006. https://doi.org/10.7759/cureus.48006.

Article  PubMed  PubMed Central  Google Scholar 

Vingolo EM, Mascolo S, Miccichè F, Manco G. Retinitis pigmentosa: from pathomolecular mechanisms to therapeutic strategies. Medicina (Mex). 2024;60:189.

Article  Google Scholar 

Song D-J, Bao X-L, Fan B, Li G-Y. Mechanism of cone degeneration in retinitis igmentosa. Cell Mol Neurobiol. 2023;43:1037–48.

Article  PubMed  Google Scholar 

Ali MU, Rahman MSU, Cao J, Yuan PX. Genetic characterization and disease mechanism of retinitis pigmentosa; current scenario. 3 Biotech. 2017;7:251.

Article  PubMed  PubMed Central  Google Scholar 

Chizzolini M, Galan A, Milan E, Sebastiani A, Costagliola C, Parmeggiani F. Good epidemiologic practice in retinitis pigmentosa: from phenotyping to biobanking. Curr Genomics. 2011;12:260–6.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Wang J, Xu D, Zhu T, Zhou Y, Chen X, Wang F, et al. Identification of two novel RHO mutations in Chinese retinitis pigmentosa patients. Exp Eye Res. 2019;188:107726.

Article  CAS  PubMed  Google Scholar 

Zhen F, Zou T, Wang T, Zhou Y, Dong S, Zhang H. Rhodopsin-associated retinal dystrophy: disease mechanisms and therapeutic strategies. Front Neurosci. 2023;17:1132179.

Article  PubMed  PubMed Central  Google Scholar 

Cheng J, Fu J, Zhou Q, Xiang X, Wei C, Yang L, et al. A novel splicing mutation in the PRPH2 gene causes autosomal dominant retinitis pigmentosa in a Chinese pedigree. J Cell Mol Med. 2019;23:3776–80.

Article  PubMed  PubMed Central  Google Scholar 

da Palma MM, Martin D, Salles MV, Motta FLT, Abujamra S, Sallum JMF. Retinal dystrophies and variants in PRPH2. Arq Bras Oftalmol. 2019;82:158–60.

Article  PubMed  Google Scholar 

Bhardwaj A, Yadav A, Yadav M, Tanwar M. Genetic dissection of non-syndromic retinitis pigmentosa. Indian J Ophthalmol. 2022;70:2355–85.

Article  PubMed  PubMed Central  Google Scholar 

Kim KJ, Kim C, Bok J, Kim K-S, Lee E-J, Park SP, et al. Spectrum of rhodopsin mutations in Korean patients with retinitis pigmentosa. Mol Vis. 2011;17:844–53.

CAS  PubMed  PubMed Central  Google Scholar 

Yang Z, Li Y, Jiang L, Karan G, Moshfeghi D, O’Connor S, et al. A novel RDS/peripherin gene mutation associated with diverse macular phenotypes. Ophthalmic Genet. 2004;25:133–45.

Article  CAS  PubMed  Google Scholar 

Schwarz JM, Rödelsperger C, Schuelke M, Seelow D. Mutationtaster evaluates disease-causing potential of sequence alterations. Nat Methods. 2010;7:575–6.

Article  CAS  PubMed  Google Scholar 

Adzhubei I, Jordan DM, Sunyaev SR. Predicting functional effect of human missense mutations using PolyPhen-2. Curr Protoc Hum Genet. 2013;76(1):7–20.

Google Scholar 

Ioannidis NM, Rothstein JH, Pejaver V, Middha S, McDonnell SK, Baheti S, et al. Revel: an ensemble method for predicting the pathogenicity of rare missense variants. Am J Hum Genet. 2016;99:877–85.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Pejaver V, Urresti J, Lugo-Martinez J, Pagel KA, Lin GN, Nam H-J, et al. Inferring the molecular and phenotypic impact of amino acid variants with MutPred2. Nat Commun. 2020;11:5918.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Thomas PD, Ebert D, Muruganujan A, Mushayahama T, Albou L-P, Mi H. Panther: making genome-scale phylogenetics accessible to all. Protein Sci. 2022;31:8–22.

Article  CAS  PubMed  Google Scholar 

Hecht M, Bromberg Y, Rost B. Better prediction of functional effects for sequence variants. BMC Genomics. 2015;16:S1.

Article  PubMed  PubMed Central  Google Scholar 

Rentzsch P, Witten D, Cooper GM, Shendure J, Kircher M. CADD: predicting the deleteriousness of variants throughout the human genome. Nucleic Acids Res. 2019;47:D886–94.

Article  CAS  PubMed  Google Scholar 

Sun H, Yu G. New insights into the pathogenicity of non-synonymous variants through multi-level analysis. Sci Rep. 2019;9:1667.

Article  PubMed  PubMed Central  Google Scholar 

de Sainte Agathe J-M, Filser M, Isidor B, Besnard T, Gueguen P, Perrin A, et al. SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation. Hum Genomics. 2023;17:7.

Article  PubMed  PubMed Central  Google Scholar 

Kouza M, Faraggi E, Kolinski A, Kloczkowski A. The GOR method of protein secondary structure prediction and its application as a protein aggregation prediction tool. Methods Mol Biol Clifton NJ. 2017;1484:7–24.

Article  CAS  Google Scholar 

Molday RS, Moritz OL. Photoreceptors at a glance. J Cell Sci. 2015;128:4039–45.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Chakraborty D, Conley SM, Al-Ubaidi MR, Naash MI. Initiation of rod outer segment disc formation requires RDS. PLoS ONE. 2014;9:e98939.

Article  PubMed  PubMed Central  Google Scholar 

Sakai D, Hiraoka M, Matsuzaki M, Yokota S, Hirami Y, Onishi A, et al. Genotype and phenotype characteristics of RHO-associated retinitis pigmentosa in the Japanese population. Jpn J Ophthalmol. 2023;67:138–48.

Article  CAS  PubMed  Google Scholar 

Pulagam LP, Palczewski K. Electrostatic compensation restores trafficking of the autosomal recessive retinitis pigmentosa E150K opsin mutant to the plasma membrane. J Biol Chem. 2010;285:29446–56.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Zhu L, Imanishi Y, Filipek S, Alekseev A, Jastrzebska B, Sun W, et al. Autosomal recessive retinitis pigmentosa and E150K mutation in the opsin gene. J Biol Chem. 2006;281:22289–98.

Article  CAS  PubMed  Google Scholar 

Kumaramanickavel G, Maw M, Denton MJ, John S, Srikumari CRS, Orth U, et al. Missense rhodopsin mutation in a family with recessive RP. Nat Genet. 1994;8:10–1.

Article  CAS  PubMed  Google Scholar 

Azam M, Khan MI, Gal A, Hussain A, Shah STA, Khan MS, et al. A homozygous p. Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa. Mol Vis. 2009;15:2526–34.

CAS  PubMed  PubMed Central  Google Scholar 

Saqib MAN, Nikopoulos K, Ullah E, Sher Khan F, Iqbal J, Bibi R, et al. Homozygosity mapping reveals novel and known mutations in Pakistani families with inherited retinal dystrophies. Sci Rep. 2015;5:9965.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Van Schil K, Karlstetter M, Aslanidis A, Dannhausen K, Azam M, Qamar R, et al. Autosomal recessive retinitis pigmentosa with homozygous rhodopsin mutation E150K and non-coding cis-regulatory variants in CRX-binding regions of SAMD7. Sci Rep. 2016;6:21307.

Article  PubMed  PubMed Central  Google Scholar 

Zhang N, Kolesnikov AV, Jastrzebska B, Mustafi D, Sawada O, Maeda T, et al. Autosomal recessive retinitis pigmentosa E150K opsin mice exhibit photoreceptor disorganization. J Clin Invest. 2013;123:121–37.

Article