Retinitis pigmentosa

Definition:

Retinitis pigmentosa (RP) is a group of inherited progressive retinal diseases characterized by progressive peripheral vision loss and night vision difficulties. RP can be divided into syndromic (40 %) and non-syndromic (60 %) forms. The most frequent forms of syndromic RP are Usher syndrome and Bardet-Biedl syndrome. Mutations in more than 50 genes are known to cause non-syndromic RP. Non-syndromic RP can be inherited in an autosomal dominant, autosomal recessive, or X-linked manner.

References:

[1]. Alice E Davidson, et al. Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa. Am J Hum Genet. 2009 Nov;85(5):581-92. [Content Brief]

[2]. D Y Wang, et al. Gene mutations in retinitis pigmentosa and their clinical implications. Clin Chim Acta. 2005 Jan;351(1-2):5-16. [Content Brief]

[3]. Ditta Zobor, et al. Phenotype Variations Caused by Mutations in the RP1L1 Gene in a Large Mainly German Cohort. Invest Ophthalmol Vis Sci. 2018 Jun 1;59(7):3041-3052. [Content Brief]

[4]. Elia Shevach, et al. Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosa. JAMA Ophthalmol. 2015 Mar;133(3):312-8. [Content Brief]

[5]. Gavin Arno, et al. Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration. Am J Hum Genet. 2017 Feb 2;100(2):334-342. [Content Brief]

[6]. Gavin Arno, et al. Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa. Am J Hum Genet. 2016 Dec 1;99(6):1305-1315. [Content Brief]

[7]. Goranka Tanackovic, et al. A missense mutation in PRPF6 causes impairment of pre-mRNA splicing and autosomal-dominant retinitis pigmentosa. Am J Hum Genet. 2011 May 13;88(5):643-9. [Content Brief]

[8]. Kinga M Bujakowska, et al. Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome. Hum Mol Genet. 2015 Jan 1;24(1):230-42. [Content Brief]

[9]. Laurence H M Pierrache, et al. Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma. Ophthalmology. 2017 Jul;124(7):992-1003. [Content Brief]

[10]. Lina Zelinger, et al. A missense mutation in DHDDS, encoding dehydrodolichyl diphosphate synthase, is associated with autosomal-recessive retinitis pigmentosa in Ashkenazi Jews. Am J Hum Genet. 2011 Feb 11;88(2):207-15. [Content Brief]

[11]. Lori S Sullivan, et al. A dominant mutation in hexokinase 1 (HK1) causes retinitis pigmentosa. Invest Ophthalmol Vis Sci. 2014 Sep 4;55(11):7147-58. [Content Brief]

[12]. Rıza Köksal Ozgül, et al. Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa. Am J Hum Genet. 2011 Aug 12;89(2):253-64. [Content Brief]

[13]. Rob W J Collin, et al. Mutations in C2ORF71 cause autosomal-recessive retinitis pigmentosa. Am J Hum Genet. 2010 May 14;86(5):783-8. [Content Brief]

[14]. Sarah Hull, et al. Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140. Invest Ophthalmol Vis Sci. 2016 Mar;57(3):1053-62. [Content Brief]

[15]. Stephen P Daiger, et al. Perspective on genes and mutations causing retinitis pigmentosa. Arch Ophthalmol. 2007 Feb;125(2):151-8. [Content Brief]

[16]. Zahid Latif, et al. Confirmation of the Role of DHX38 in the Etiology of Early-Onset Retinitis Pigmentosa. Invest Ophthalmol Vis Sci. 2018 Sep 4;59(11):4552-4557. [Content Brief]

[17]. Zi-Bing Jin, et al. SLC7A14 linked to autosomal recessive retinitis pigmentosa. Nat Commun. 2014 Mar 27;5:3517. [Content Brief]

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