Retinitis Pigmentosa Accompanied by High Myopia: Clinical Characteristics,Diagnosis, and Treatment
Chunyun Feng1 , Xiaoyun Fang2
1Department of Ophthalmology, Quzhou People's Hospital, Quzhou 324000, China 2Eye Center of Second Affiliated Hospital, Zhejiang University, Eye Hospital of Zhejiang University,Hangzhou 310000, China
Abstract：Retinitis pigmentosa (RP) is the most common form of inherited eye disease blindness worldwide. Due to the progressive degeneration of photoreceptors and retinal pigment epithelium, patients who are diagnosed with RP usually present with constriction of the visual fields, night blindness and eventual loss of central vision. Moreover, some RP patients may carry other ocular symptoms, such as cataract and high myopia. Therefore, RP combined with high myopia (HM) is the area of greatest interest for its severe visual impairment. In this review, we summarize the genotype-phenotype correlation and clinical characteristics, and determine the causative genes for RP with HM. Altogether, this review provides a new insight for the disease and makes a contribution to the genetic diagnosis of the disease and counseling for the disease.
Li S, Yang M, Liu W, et al. Targeted next-generation sequencing reveals novel RP1 mutations in autosomal recessive retinitis pigmentosa. Genet Test Mol Biomarkers, 2018, 22(2): 109-114. DOI: 10.1089/gtmb.2017.0223.
[2]
Huang XY, Zhuang H, Wu JH, et al.Targeted next-generation sequencing analysis identifies novel mutations in families with severe familial exudative vitreoretinopathy. Mol Vis, 2017, 23: 605-613.
[3]
Wang X, Wang H, Sun V, et al. Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing. J Med Genet, 2013, 50(10): 674-688. DOI: 10.1136/ jmedgenet-2013-101558.
[4]
Ferrari S, Di Iorio E, Barbaro V, et al. Retinitis pigmentosa: genes and disease mechanisms. Curr Genomics, 2011, 12(4): 238-249. DOI: 10.2174/138920211795860107.
[5]
Zhong Z, Yan M, Sun W, et al. Two novel mutations in PRPF3 causing autosomal dominant retinitis pigmentosa. Sci Rep, 2016, 6: 37840. DOI: 10.1038/srep37840.
[6]
Lyraki R, Megaw R, Hurd T. Disease mechanisms of X-linked retinitis pigmentosa due to RP2 and RPGR mutations. Biochem Soc Trans, 2016, 44(5): 1235-1244. DOI: 10.1042/ BST20160148.
[7]
Audere M, Rutka K, Sepetiene S, et al. Presentation of Complex Homozygous Allele in ABCA4 Gene in a Patient with Retinitis Pigmentosa. Case Rep Ophthalmol Med, 2015, 2015: 452068.DOI: 10.1155/2015/452068.
[8]
Yasushi Ikuno M. Overview of the complications of high myopia. Retina, 2017, 37(12): 2347-2351. DOI: 10.1097/ IAE.0000000000001489.
[9]
PA Sieving, GA Fishman. Refractive errors of retinitis pigmentosa patients. Br J Ophthalmol, 1978, 62(3): 163-167. DOI: 10.1097/IAE.0000000000001489.
[10]
Deng WL, Gao ML, Lei XL, et al. Gene correction reverses ciliopathy and photoreceptor loss in iPSC-Derived retinal organoids from retinitis pigmentosa patients. Stem Cell Reports, 2018, 10(4): 1267-1281. DOI: 10.1016/j.stemcr.2018.05.012.
[11]
Iarossi G, Bertelli M. Corrigendum to "Genotype-Phenotype Characterization of Novel Variants in Six Italian Patients with Familial Exudative Vitreoretinopathy". J Ophthalmol, 2017, 2017: 7969364. DOI: 10.1155/2017/7969364.
Schwahn U, Lenzner S, Dong J, et al. Positional cloning of the gene for X-linked retinitis pigmentosa 2. Nat Genet, 1998, 19(4): 327-332. DOI: 10.1038/1214.
[14]
Sahel JA, Marazova K, Audo I.Clinical characteristics and current therapies for inherited retinal degenerations. Cold Spring Harb Perspect Med, 2014, 5(2): a017111. DOI: 10.1101/ cshperspect.a017111.
[15]
Yokoyama A, Maruiwa F, Hayakawa M, et al. Three novel mutations of the RPGR gene exon ORF15 in three Japanese families with X-linked retinitis pigmentosa. Am J Med Genet, 2001, 104(3): 232-238. DOI: 10.1002/ajmg.10035.abs.
[16]
Jin ZB, Liu XQ, Hayakawa M, et al. Mutational analysis of RPGR and RP2 genes in Japanese patients with retinitis pigmentosa: identification of four mutations. Mol Vis, 2006, 12: 1167-1174.
[17]
Banin E, Mizrahi-Meissonnier L, Neis R, et al. A non-ancestral RPGR missense mutation in families with either recessive or semi-dominant X-linked retinitis pigmentosa. Am J Med Genet A, 2007, 143A(11): 1150-1158. DOI: 10.1002/ajmg.a.31642.
[18]
Sheng X, Li Z, Zhang X, et al. A novel mutation in retinitis pigmentosa GTPase regulator gene with a distinctive retinitis pigmentosa phenotype in a Chinese family. Mol Vis, 2010, 16: 1620-1628. DOI：10.1002/jcb.22726.
[19]
Kousal B, Skalicka P, Valesova L, et al. Severe retinal degeneration in women with a c.2543del mutation in ORF15 of the RPGR gene. Mol Vis,2014, 20:1307-1317.
[20]
Parmeggiani F, Barbaro V, De Nadai K, et al. Identification of novel X-linked gain-of-function RPGR-ORF15 mutation in Italian family with retinitis pigmentosa and pathologic myopia. Sci Rep, 2016, 6: 39179. DOI: 10.1038/srep39179.
[21]
Jayasundera T, Branham KE, Othman M, et al. RP2 phenotype and pathogenetic correlations in X-linked retinitis pigmentosa. Arch Ophthalmol, 2010, 128(7): 915-923. DOI: 10.1001/ archophthalmol.2010.122.
[22]
Vervoort R, Lennon A, Bird AC, et al. Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa. Nat Genet, 2000, 25(4): 462-466. DOI: 10.1038/78182.
[23]
Hong DH, Pawlyk BS, Shang J, et al. A retinitis pigmentosa GTPase regulator (RPGR)-deficient mouse model for X-linked retinitis pigmentosa (RP3). Proc Natl Acad Sci U S A, 2000, 97(7): 3649-3654. DOI: 10.1073/pnas.97.7.3649.
[24]
Moore A, Escudier E, Roger G, et al. RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa. J Med Genet, 2006, 43(4): 326-333. DOI: 10.1136/jmg.2005.034868.
[25]
Gupta GD, Coyaud E, Goncalves J, et al. A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface. Cell, 2015, 163(6): 1484-1499.DOI: 10.1016/ j.cell.2015.10.065.
[26]
Sun X, Park JH, Gumerson J, et al. Loss of RPGR glutamylation underlies the pathogenic mechanism of retinal dystrophy caused by TTLL5 mutations. Proc Natl Acad Sci U S A, 2016, 113(21): E2925-2934. DOI: 10.1073/pnas.1523201113.
[27]
Fishman GA, Grover S, Buraczynska M, et al. A new 2-base pair deletion in the RPGR gene in a black family with X-linked retinitis pigmentosa. Arch Ophthalmol, 1998, 116(2): 213-218. DOI: 10.1001/archopht.116.2.213.
[28]
Fishman GA, Grover S, Jacobson SG, et al. X-linked retinitis pigmentosa in two families with a missense mutation in the RPGR gene and putative change of glycine to valine at codon 60. Ophthalmology, 1998, 105(12): 2286-2296. DOI: 10.1016/ S0161-6420(98)91231-3.
[29]
Grover S, Fishman GA, Anderson RJ, et al. A longitudinal study of visual function in carriers of X-linked recessive retinitis pigmentosa. Ophthalmology, 2000, 107(2): 386-396. DOI: 10.1016/s0161-6420(99)00045-7.
[30]
Friedrich U, Warburg M, Jorgensen AL. X-inactivation pattern in carriers of X-linked retinitis pigmentosa: a valuable means of prognostic evaluation? Hum Genet, 1993, 92(4): 359-363. DOI: 10.1007/BF01247335.
Liu J, Lyu J, Zhang X, et al. Lamellar hole-associated epiretinal membrane is a common feature of macular holes in retinitis pigmentosa. Eye (Lond), 2020, 34(4): 643-649. DOI: 10.1038/ s41433-019-0563-3.
[33]
Martinez-Fernandez De La Camara C, Cehajic-Kapetanovic J, MacLaren RE. RPGR gene therapy presents challenges in cloning the coding sequence. Expert Opin Biol Ther, 2020, 20(1): 63-71. DOI: 10.1080/14712598.2020.1680635.
浙公网安备 33030202001892号