Retinitis Pigmentosa: Current Clinical Management and Emerging Therapies.
clinical management
gene therapy
genetic counseling
genetics
low vision
low-vision rehabilitation
retinitis pigmentosa
Journal
International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791
Informations de publication
Date de publication:
19 Apr 2023
19 Apr 2023
Historique:
received:
11
03
2023
revised:
01
04
2023
accepted:
15
04
2023
medline:
1
5
2023
pubmed:
28
4
2023
entrez:
28
4
2023
Statut:
epublish
Résumé
Retinitis pigmentosa (RP) comprises a group of inherited retinal dystrophies characterized by the degeneration of rod photoreceptors, followed by the degeneration of cone photoreceptors. As a result of photoreceptor degeneration, affected individuals experience gradual loss of visual function, with primary symptoms of progressive nyctalopia, constricted visual fields and, ultimately, central vision loss. The onset, severity and clinical course of RP shows great variability and unpredictability, with most patients already experiencing some degree of visual disability in childhood. While RP is currently untreatable for the majority of patients, significant efforts have been made in the development of genetic therapies, which offer new hope for treatment for patients affected by inherited retinal dystrophies. In this exciting era of emerging gene therapies, it remains imperative to continue supporting patients with RP using all available options to manage their condition. Patients with RP experience a wide variety of physical, mental and social-emotional difficulties during their lifetime, of which some require timely intervention. This review aims to familiarize readers with clinical management options that are currently available for patients with RP.
Identifiants
pubmed: 37108642
pii: ijms24087481
doi: 10.3390/ijms24087481
pmc: PMC10139437
pii:
doi:
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Références
Br J Ophthalmol. 2007 Jun;91(6):743-5
pubmed: 17215269
J Community Genet. 2021 Jul;12(3):325-335
pubmed: 33611773
PLoS One. 2015 Mar 30;10(3):e0121977
pubmed: 25822196
J Ocul Pharmacol Ther. 2020 Apr;36(3):190-197
pubmed: 31886707
Br J Ophthalmol. 2014 Jul;98(7):852-6
pubmed: 24403565
J Ophthalmol. 2011;2011:753547
pubmed: 21048997
J Vet Diagn Invest. 2020 Nov;32(6):767-775
pubmed: 32070230
Scand J Urol Nephrol. 1987;21(3):225-8
pubmed: 3433023
Ann Otol Rhinol Laryngol. 2015 May;124 Suppl 1:77S-83S
pubmed: 25743180
Acta Ophthalmol Scand Suppl. 2002;(233):1-34
pubmed: 11921605
JAMA Ophthalmol. 2018 May 1;136(5):496-497
pubmed: 29596581
JAMA Ophthalmol. 2017 Jul 1;135(7):696-703
pubmed: 28542693
J Neurol Sci. 2014 Oct 15;345(1-2):228-30
pubmed: 25066259
Orphanet J Rare Dis. 2018 Apr 23;13(1):61
pubmed: 29688860
Retina. 2020 Jul;40(7):1359-1366
pubmed: 31166248
Cell. 2019 Mar 7;176(6):1248-1264
pubmed: 30849371
Trans Am Neurol Assoc. 1961;86:49-53
pubmed: 13909703
Ann Lab Med. 2018 Jul;38(4):291-295
pubmed: 29611378
Eur J Ophthalmol. 2006 Nov-Dec;16(6):865-6
pubmed: 17191195
Mol Genet Genomic Med. 2015 Mar;3(2):79-83
pubmed: 25802877
Am J Hum Genet. 2010 Sep 10;87(3):410-7
pubmed: 20797687
Mol Ther. 2017 Aug 2;25(8):1854-1865
pubmed: 28549772
Q Rev Biophys. 2002 May;35(2):169-200
pubmed: 12197303
Sci Rep. 2015 Dec 15;5:18287
pubmed: 26667666
Ophthalmology. 1981 Mar;88(3):261-5
pubmed: 7231915
Ophthalmology. 2015 May;122(5):903-8
pubmed: 25601536
Proc Natl Acad Sci U S A. 2013 Feb 5;110(6):E517-25
pubmed: 23341635
J Ophthalmol. 2019 Feb 21;2019:8524607
pubmed: 30918719
Ophthalmology. 1986 Dec;93(12):1604-11
pubmed: 3808619
Genet Med. 2013 Jul;15(7):565-74
pubmed: 23788249
Retina. 1994;14(3):243-7
pubmed: 7973119
Transl Pediatr. 2020 Apr;9(2):163-173
pubmed: 32477917
Lancet. 2009 Nov 7;374(9701):1597-605
pubmed: 19854499
Int J Ophthalmol. 2020 Oct 18;13(10):1612-1620
pubmed: 33078113
Cochrane Database Syst Rev. 2020 Jan 27;1:CD006543
pubmed: 31985055
Invest Ophthalmol Vis Sci. 2017 May 1;58(5):2534-2537
pubmed: 28492871
J Med Case Rep. 2013 Mar 14;7:69
pubmed: 23497416
Br J Ophthalmol. 2019 Aug;103(8):1163-1166
pubmed: 30291136
Sci Rep. 2021 May 14;11(1):10349
pubmed: 33990634
Invest Ophthalmol Vis Sci. 2020 Jun 3;61(6):56
pubmed: 32589198
Arch Ophthalmol. 2000 Jun;118(6):800-2
pubmed: 10865317
PLoS One. 2014 Dec 18;9(12):e115239
pubmed: 25521292
Methods Mol Biol. 2010;628:215-26
pubmed: 20238084
Ophthalmology. 2019 Sep;126(9):1273-1285
pubmed: 31443789
J Clin Invest. 2003 Nov;112(9):1274-9
pubmed: 14597750
Ophthalmology. 2004 Oct;111(10):1899-904
pubmed: 15465554
Sci Rep. 2014 Mar 31;4:4532
pubmed: 24681819
Int J Rehabil Res. 2009 Mar;32(1):12-9
pubmed: 19057390
Proc Natl Acad Sci U S A. 2018 Sep 4;115(36):E8547-E8556
pubmed: 30127005
Int J Mol Sci. 2021 Apr 26;22(9):
pubmed: 33926102
Retina. 2009 Nov-Dec;29(10):1513-21
pubmed: 19730162
Ophthalmic Res. 2017;58(4):217-226
pubmed: 28858866
Invest Ophthalmol. 1971 Oct;10(10):784-93
pubmed: 5124019
Invest Ophthalmol Vis Sci. 2014 Oct 23;55(11):7417-22
pubmed: 25342618
Curr Genomics. 2011 Jun;12(4):267-75
pubmed: 22131872
Arch Ophthalmol. 1979 Jul;97(7):1300-4
pubmed: 454267
Ophthalmol Retina. 2018 Jan;2(1):10-16
pubmed: 31047295
Can J Ophthalmol. 1979 Jan;14(1):10-6
pubmed: 421158
Arch Ophthalmol. 2009 May;127(5):681-9
pubmed: 19433720
Acta Ophthalmol Scand. 2005 Apr;83(2):248-51
pubmed: 15799743
J Hum Genet. 2014 Jan;59(1):5-15
pubmed: 24196381
Mol Ther Nucleic Acids. 2012 Mar 27;1:e14
pubmed: 23343883
J Neuroophthalmol. 2003 Sep;23(3):225-35
pubmed: 14504596
Retina. 2007 Oct;27(8):1112-8
pubmed: 18040255
Int J Mol Sci. 2020 Jan 28;21(3):
pubmed: 32012938
Ophthalmic Surg Lasers. 2002 Mar-Apr;33(2):152-4
pubmed: 11942549
Curr Opin Ophthalmol. 2017 May;28(3):260-266
pubmed: 28151748
Transl Vis Sci Technol. 2019 Jun 11;8(3):36
pubmed: 31211001
Cell Transplant. 2019 Jul;28(7):801-812
pubmed: 31018669
Ophthalmic Surg Lasers Imaging Retina. 2018 Aug 1;49(8):587-594
pubmed: 30114303
Br J Ophthalmol. 2001 Aug;85(8):936-8
pubmed: 11466249
Cold Spring Harb Perspect Med. 2015 Jan 29;5(9):a017285
pubmed: 25635059
Ophthalmic Surg Lasers Imaging Retina. 2014 Mar-Apr;45(2):160-4
pubmed: 24506098
Int J Retina Vitreous. 2017 Jan 09;3:1
pubmed: 28078103
Medicine (Baltimore). 2016 Dec;95(52):e5785
pubmed: 28033301
Adv Cancer Res. 2008;100:133-58
pubmed: 18620095
Cochrane Database Syst Rev. 2013 Dec 19;(12):CD008428
pubmed: 24357340
Genet Med. 2021 Aug;23(8):1381-1390
pubmed: 34012068
Ann Ophthalmol. 1981 May;13(5):609-18
pubmed: 6973307
Int J Mol Sci. 2020 Jun 19;21(12):
pubmed: 32575575
Arch Ophthalmol. 1977 May;95(5):798-803
pubmed: 860943
Prog Retin Eye Res. 2018 Jan;62:24-37
pubmed: 28962928
Clin Ophthalmol. 2020 Dec 03;14:4229-4251
pubmed: 33299297
Cochrane Database Syst Rev. 2020 Jun 18;6(6):CD008428
pubmed: 32573764
Stem Cell Res Ther. 2021 Jan 9;12(1):52
pubmed: 33422139
Arch Ophthalmol. 1993 Jun;111(6):761-72
pubmed: 8512476
Cochrane Database Syst Rev. 2018 Apr 17;4:CD003303
pubmed: 29664159
J Curr Ophthalmol. 2018 Feb 16;30(1):1-2
pubmed: 29564403
Indian J Ophthalmol. 2021 Jul;69(7):1753-1757
pubmed: 34146021
Nat Med. 2021 Jul;27(7):1223-1229
pubmed: 34031601
Invest Ophthalmol Vis Sci. 2007 Apr;48(4):1476-82
pubmed: 17389474
Signal Transduct Target Ther. 2021 Feb 8;6(1):53
pubmed: 33558455
Invest Ophthalmol Vis Sci. 2015 Feb 10;56(3):1531-6
pubmed: 25670491
Optom Vis Sci. 2016 Jul;93(7):720-30
pubmed: 27058594
Int J Mol Sci. 2021 May 26;22(11):
pubmed: 34073611
Ophthalmology. 2013 Jan;120(1):100-5
pubmed: 22986109
Prog Retin Eye Res. 2021 May;82:100907
pubmed: 33022378
Acta Ophthalmol Scand. 1998 Apr;76(2):243-4
pubmed: 9591963
Ophthalmol Retina. 2018 May;2(5):502-507
pubmed: 31047333
Orphanet J Rare Dis. 2021 Jun 4;16(1):257
pubmed: 34088339
Invest Ophthalmol Vis Sci. 2017 Oct 1;58(12):5399-5411
pubmed: 29053763
Am J Ophthalmol. 2023 Feb;246:1-9
pubmed: 36252678
Prog Retin Eye Res. 2020 Mar;75:100779
pubmed: 31494256
J Cataract Refract Surg. 2001 Oct;27(10):1691-4
pubmed: 11687372
Expert Rev Med Devices. 2014 Jan;11(1):23-30
pubmed: 24308734
Ocul Immunol Inflamm. 2003 Dec;11(4):305-7
pubmed: 14704902
Curr Opin Ophthalmol. 2015 May;26(3):226-32
pubmed: 25759964
BMJ Case Rep. 2014 Feb 10;2014:
pubmed: 24515232
Cesk Slov Oftalmol. 2013 Mar;69(1):32-6
pubmed: 23822599
Doc Ophthalmol. 1999;97(3-4):387-97
pubmed: 10896355
JAMA Ophthalmol. 2016 Jun 1;134(6):628-35
pubmed: 27031504
Graefes Arch Clin Exp Ophthalmol. 2017 Sep;255(9):1801-1810
pubmed: 28523457
Int J Retina Vitreous. 2017 Jan 23;3:3
pubmed: 28127443
Biotechnol Adv. 2018 Jul - Aug;36(4):1111-1126
pubmed: 29563048
Retina. 2014 May;34(5):981-8
pubmed: 24756036
Sci Transl Med. 2012 Feb 8;4(120):120ra15
pubmed: 22323828
Invest Ophthalmol Vis Sci. 2007 Mar;48(3):1298-304
pubmed: 17325176
Invest Ophthalmol Vis Sci. 2008 Sep;49(9):3821-9
pubmed: 18515570
Arch Ophthalmol. 2004 Sep;122(9):1306-14
pubmed: 15364709
Cytokine. 2020 Mar;127:154943
pubmed: 31810025
BMJ. 2006 Jul 15;333(7559):128-32
pubmed: 16840470
Sci Transl Med. 2010 Apr 7;2(26):26ps16
pubmed: 20375363
Cesk Slov Oftalmol. 2016 Fall;72(5):167-171
pubmed: 28224801
Arch Ophthalmol. 2001 Jul;119(7):1050-8
pubmed: 11448327
Rom J Morphol Embryol. 2018;59(2):455-467
pubmed: 30173249
Int J Mol Sci. 2022 Nov 30;23(23):
pubmed: 36499371
Acta Ophthalmol. 2011 Mar;89(2):e122-5
pubmed: 20222905
Ophthalmic Genet. 2020 Dec;41(6):533-538
pubmed: 32808561
Retina. 2021 Jan 1;41(1):213-223
pubmed: 32301896
Curr Genomics. 2011 Jun;12(4):250-9
pubmed: 22131870
Nat Rev Genet. 2020 Apr;21(4):255-272
pubmed: 32042148
Biologics. 2021 Jul 27;15:299-306
pubmed: 34349498
Ophthalmology. 1982 Aug;89(8):880-4
pubmed: 7133635
Genes (Basel). 2021 Sep 11;12(9):
pubmed: 34573385
Prog Retin Eye Res. 2018 Sep;66:157-186
pubmed: 29597005
Am J Ophthalmol. 2017 Apr;176:157-165
pubmed: 28130043
J Med Case Rep. 2008 Mar 12;2:80
pubmed: 18336720
J Ophthalmol. 2021 Nov 15;2021:2281834
pubmed: 34820138
Surv Ophthalmol. 2018 May - Jun;63(3):329-339
pubmed: 28987613
J Clin Invest. 2018 Jun 1;128(6):2177-2188
pubmed: 29856367
Rev Bras Hematol Hemoter. 2012;34(3):222-6
pubmed: 23049424
Biomed Hub. 2017 Mar 4;2(1):1-11
pubmed: 31988902
Sci Rep. 2020 Mar 2;10(1):3795
pubmed: 32123222
Prog Retin Eye Res. 2022 Jan;86:100975
pubmed: 34058340
Doc Ophthalmol. 2015 Feb;130(1):1-12
pubmed: 25502644
Ther Adv Ophthalmol. 2022 Nov 4;14:25158414221134602
pubmed: 36388727
Clin Ophthalmol. 2022 Jun 03;16:1753-1771
pubmed: 35685379
Cell. 2015 May 7;161(4):817-32
pubmed: 25957687
Case Rep Ophthalmol Med. 2020 May 29;2020:6023586
pubmed: 32551144
Int J Mol Sci. 2022 Jan 18;23(3):
pubmed: 35162940
Am J Ophthalmol. 2022 Feb;234:37-48
pubmed: 34320374
Br J Ophthalmol. 2015 Apr;99(4):508-11
pubmed: 25336579
Eur J Hum Genet. 2014 Jan;22(1):99-104
pubmed: 23591405
Am J Ophthalmol. 1976 Apr;81(4):417-9
pubmed: 1083673
Am J Ophthalmol. 2021 Jan;221:299-310
pubmed: 32795431
Am J Bioeth. 2014;14(3):28-31
pubmed: 24592837
BMJ Open Respir Res. 2020 Apr;7(1):
pubmed: 32332024
Am J Hum Genet. 2008 Jan;82(1):19-31
pubmed: 18179881
Nat Rev Genet. 2008 Feb;9(2):152-6
pubmed: 18087293
Br J Ophthalmol. 2017 Jan;101(1):31-37
pubmed: 27913439
Invest Ophthalmol Vis Sci. 2018 Sep 4;59(11):4558-4566
pubmed: 30208424
Invest Ophthalmol Vis Sci. 2016 Jun 1;57(7):3118-28
pubmed: 27304843
Am J Ophthalmol. 2006 May;141(5):850-8
pubmed: 16546110
Genet Med. 2019 May;21(5):1100-1110
pubmed: 30287922
Retina. 2008 Apr;28(4):610-4
pubmed: 18398364
JMIR Res Protoc. 2021 Jan 20;10(1):e17436
pubmed: 33470946
Front Neurosci. 2021 Oct 13;15:717429
pubmed: 34720855
Disabil Rehabil. 2020 Dec;42(24):3525-3537
pubmed: 31120308
Ophthalmic Genet. 2014 Dec;35(4):241-7
pubmed: 24918165
Br J Ophthalmol. 2008 Aug;92(8):1065-8
pubmed: 18653601
Mol Vis. 2015 Jul 17;21:783-92
pubmed: 26261414
Ocul Immunol Inflamm. 2018;26(8):1283-1288
pubmed: 28960116
Retina. 2016 Dec;36 Suppl 1:S147-S158
pubmed: 28005673
Optom Vis Sci. 2007 Aug;84(8):763-74
pubmed: 17700339
Eye (Lond). 2004 Aug;18(8):765-72
pubmed: 15044934
Am J Ophthalmol. 2021 Jan;221:105-114
pubmed: 32795434
Trans Ophthalmol Soc U K (1962). 1972;92:265-83
pubmed: 4541521
Graefes Arch Clin Exp Ophthalmol. 1993 May;231(5):254-6
pubmed: 8319913
BMJ Open Ophthalmol. 2020 Jul 09;5(1):e000454
pubmed: 32671228
Ophthalmic Genet. 2017 Dec;38(6):555-558
pubmed: 28129017
BMC Ophthalmol. 2016 Jan 22;16:13
pubmed: 26801981
Arch Ophthalmol. 2010 Apr;128(4):493-5
pubmed: 20385948
BMC Ophthalmol. 2019 Aug 9;19(1):177
pubmed: 31399070
Orphanet J Rare Dis. 2006 Oct 11;1:40
pubmed: 17032466
J Ophthalmol. 2020 Dec 21;2020:6699103
pubmed: 33489339
Br Med Bull. 2018 Jun 1;126(1):27-36
pubmed: 29617718
Hum Mol Genet. 2017 Aug 1;26(R1):R2-R11
pubmed: 28510639
Clin Lab Med. 2010 Sep;30(3):519-31
pubmed: 20638568
J Clin Invest. 2003 Nov;112(9):1280-6
pubmed: 14597751
Saudi J Ophthalmol. 2012 Jan;26(1):61-5
pubmed: 23960970
J Med Case Rep. 2011 Feb 14;5:65
pubmed: 21320335
Ophthalmology. 2016 Sep;123(9):2043-6
pubmed: 27157150
Br J Ophthalmol. 1984 Aug;68(8):561-9
pubmed: 6743626
Ophthalmic Genet. 2021 Aug;42(4):365-374
pubmed: 33821751
Diagnostics (Basel). 2020 Oct 02;10(10):
pubmed: 33023209
Acta Ophthalmol. 2012 Dec;90(8):e649-50
pubmed: 22594809
CRISPR J. 2022 Jun;5(3):377-388
pubmed: 35506982
Can J Ophthalmol. 2006 Jun;41(3):340-7
pubmed: 16767190
J Community Genet. 2018 Jul;9(3):201-208
pubmed: 29082482
Orphanet J Rare Dis. 2020 Feb 14;15(1):49
pubmed: 32059734
PLoS One. 2022 Feb 17;17(2):e0264113
pubmed: 35176097
Graefes Arch Clin Exp Ophthalmol. 2013 Jun;251(6):1501-6
pubmed: 23275039
Clinicoecon Outcomes Res. 2021 Jun 23;13:565-572
pubmed: 34188501
Semin Thromb Hemost. 2019 Oct;45(7):661-673
pubmed: 31096307
Am J Ophthalmol. 2017 Aug;180:117-123
pubmed: 28601586
Ophthalmic Epidemiol. 2008 Jul-Aug;15(4):279-81
pubmed: 18780262
Invest Ophthalmol Vis Sci. 1999 Jul;40(8):1770-5
pubmed: 10393047
Retina. 2016 Jul;36(7):1345-8
pubmed: 26655616
Graefes Arch Clin Exp Ophthalmol. 2010 Oct;248(10):1481-5
pubmed: 20574746
Br J Ophthalmol. 2013 Sep;97(9):1187-91
pubmed: 23782868
Am J Ophthalmol. 2019 Feb;198:111-123
pubmed: 30312579
Genes (Basel). 2019 Sep 04;10(9):
pubmed: 31487940
J Cataract Refract Surg. 2013 May;39(5):673-9
pubmed: 23499065
Arch Ophthalmol. 2012 Nov;130(11):1377-82
pubmed: 23143439
Cochrane Database Syst Rev. 2010 May 12;(5):CD003925
pubmed: 20464725
Invest Ophthalmol Vis Sci. 2011 Oct 11;52(11):8042-6
pubmed: 21896857
Arch Ophthalmol. 1989 Oct;107(10):1445-52
pubmed: 2803090
Biochim Biophys Acta. 2015 Mar;1852(3):406-20
pubmed: 25481835
Am J Ophthalmol. 1985 Mar 15;99(3):240-51
pubmed: 3976802
Arch Neurol. 1976 Aug;33(8):590
pubmed: 942318
Invest Ophthalmol Vis Sci. 2017 Sep 1;58(11):4737-4746
pubmed: 28973321
JAMA Ophthalmol. 2016 Oct 01;134(10):1111-1118
pubmed: 27490785
Proc Natl Acad Sci U S A. 2006 Mar 7;103(10):3896-901
pubmed: 16505355
J Transl Med. 2017 May 10;15(1):99
pubmed: 28486987
Ophthalmology. 1983 Feb;90(2):126-31
pubmed: 6856249
J Mol Med (Berl). 2020 Oct;98(10):1347-1368
pubmed: 32794020
Transl Vis Sci Technol. 2017 Aug 09;6(4):15
pubmed: 28798898
Ophthalmic Epidemiol. 2010 Dec;17(6):366-77
pubmed: 21090911
Br J Ophthalmol. 2022 May 24;:
pubmed: 35609955
Front Neurosci. 2020 Aug 14;14:860
pubmed: 32922261
Asia Pac J Ophthalmol (Phila). 2016 Jan-Feb;5(1):59-62
pubmed: 26886121
Ophthalmology. 2017 Jun;124(6):884-895
pubmed: 28341475
J Clin Invest. 2020 Mar 2;130(3):1527-1541
pubmed: 31805012
J Ocul Pharmacol Ther. 2020 Jul/Aug;36(6):376-383
pubmed: 31891528
J Cataract Refract Surg. 2012 May;38(5):840-8
pubmed: 22520308
Expert Opin Orphan Drugs. 2020;8(2-3):67-78
pubmed: 32231889
Acta Ophthalmol (Copenh). 1993 Dec;71(6):727-32
pubmed: 8154244
Mol Genet Metab. 2021 Sep-Oct;134(1-2):96-116
pubmed: 34340878
Case Rep Ophthalmol. 2016 Sep 7;7(2):389-397
pubmed: 27721789
Graefes Arch Clin Exp Ophthalmol. 2017 Jul;255(7):1369-1374
pubmed: 28378252
Invest Ophthalmol Vis Sci. 2015 Oct;56(11):6646-53
pubmed: 26469750
PLoS One. 2017 Jan 3;12(1):e0169114
pubmed: 28045969
Lancet. 2006 Nov 18;368(9549):1795-809
pubmed: 17113430
Hum Mol Genet. 1993 Jun;2(6):813-4
pubmed: 8353500
Methods Mol Biol. 2018;1715:327-338
pubmed: 29188525
Br J Ophthalmol. 1994 Jun;78(6):504-5
pubmed: 8060947
N Engl J Med. 2015 May 14;372(20):1920-6
pubmed: 25936984
Invest Ophthalmol Vis Sci. 2016 Aug 1;57(10):4151-61
pubmed: 27537265
Invest Ophthalmol Vis Sci. 1997 Sep;38(10):1972-82
pubmed: 9331261
Br J Ophthalmol. 2022 May;106(5):696-704
pubmed: 33579689
Ophthalmology. 1981 Mar;88(3):266-9
pubmed: 7231916
Eye (Lond). 2023 Jan;37(1):42-47
pubmed: 34974539
Ophthalmic Res. 2022 Sep 14;:
pubmed: 36103843
Br J Ophthalmol. 1982 Jul;66(7):405-16
pubmed: 7093178
Eye (Lond). 2003 Aug;17(6):778-9
pubmed: 12928695
Ophthalmol Ther. 2022 Dec;11(6):1975-1989
pubmed: 36057888
Ophthalmic Genet. 2019 Oct;40(5):393-402
pubmed: 31755340
Ophthalmol Retina. 2022 Jan;6(1):58-64
pubmed: 33838313
Nat Genet. 2001 May;28(1):92-5
pubmed: 11326284
Am J Ophthalmol. 2013 Aug;156(2):283-292.e1
pubmed: 23668681
J Assist Reprod Genet. 2019 May;36(5):989-994
pubmed: 30887160
J Genet Couns. 2006 Apr;15(2):77-83
pubmed: 16761103
Trials. 2021 Dec 28;22(1):966
pubmed: 34963472
Am J Med Genet C Semin Med Genet. 2020 Sep;184(3):571-577
pubmed: 32865341
Ophthalmology. 1998 Jun;105(6):1069-75
pubmed: 9627658
Arch Ophthalmol. 2010 Sep;128(9):1146-50
pubmed: 20837798
Optom Vis Sci. 2018 Sep;95(9):774-784
pubmed: 30153237
BMJ Open. 2013 Apr 26;3(4):
pubmed: 23624990
Nat Genet. 1997 Oct;17(2):190-3
pubmed: 9326940
Can J Ophthalmol. 2017 Dec;52(6):543-547
pubmed: 29217020
N Engl J Med. 2008 May 22;358(21):2231-9
pubmed: 18441371
Invest Ophthalmol Vis Sci. 2002 Sep;43(9):3027-36
pubmed: 12202526
Am J Ophthalmol. 1984 Mar;97(3):357-65
pubmed: 6702974
Mol Cancer. 2022 Mar 3;21(1):64
pubmed: 35241090
Stem Cell Res Ther. 2022 Apr 8;13(1):148
pubmed: 35395806
Am J Ophthalmol. 1999 Aug;128(2):185-91
pubmed: 10458174
Int J Clin Pract. 2021 Aug;75(8):e14272
pubmed: 33908134
Am J Ophthalmol. 2013 Jul;156(1):82-88.e2
pubmed: 23628349
Acta Ophthalmol. 2022 Jun;100(4):e986-e993
pubmed: 34569160
JAMA Ophthalmol. 2014 Jul;132(7):866-73
pubmed: 24805262
J Gynecol Obstet Hum Reprod. 2020 May;49(5):101723
pubmed: 32113002
Eye (Lond). 2017 Dec;31(12):1747-1748
pubmed: 28776592
Eur J Ophthalmol. 2012 Jul-Aug;22(4):654-60
pubmed: 22139616
Prog Retin Eye Res. 2018 Jul;65:28-49
pubmed: 29578069
Expert Opin Drug Discov. 2012 Mar;7(3):231-43
pubmed: 22468954
Invest Ophthalmol Vis Sci. 2016 Aug 1;57(10):4282-6
pubmed: 27548902
Proc Natl Acad Sci U S A. 2013 Jan 22;110(4):1500-5
pubmed: 23297193
Ophthalmol Retina. 2022 Apr;6(4):268-272
pubmed: 34923176
JAMA Ophthalmol. 2018 May 1;136(5):490-495
pubmed: 29596553
Arch Ophthalmol. 2012 Sep;130(9):1162-8
pubmed: 22965592
Am J Ophthalmol. 2016 Oct;170:10-14
pubmed: 27457255
Ophthalmic Genet. 2018 Oct;39(5):555-559
pubmed: 29939824
Nature. 2014 Apr 24;508(7497):469-76
pubmed: 24759409
Mol Ther. 2005 Dec;12(6):1072-82
pubmed: 16226919
Prog Retin Eye Res. 2019 Jul;71:1-25
pubmed: 30885665
PLoS One. 2017 Oct 12;12(10):e0186180
pubmed: 29023491
Invest Ophthalmol Vis Sci. 2016 Jul 1;57(8):3674-84
pubmed: 27403996
PLoS One. 2022 Sep 9;17(9):e0274066
pubmed: 36083972
Sci Rep. 2015 Aug 13;5:13078
pubmed: 26268934
Retina. 2019 Jun;39(6):1186-1199
pubmed: 29528978
Ophthalmology. 1987 Sep;94(9):1134-9
pubmed: 3684231
Eye (Lond). 2015 May;29(5):699-702
pubmed: 25697459
Mol Vis. 2015 Jul 17;21:767-82
pubmed: 26261413
Arch Ophthalmol. 1978 Jul;96(7):1185-8
pubmed: 307377
Ophthalmol Retina. 2017 Nov - Dec;1(6):531-544
pubmed: 31047448
Am J Ophthalmol. 2013 Aug;156(2):293-303.e2
pubmed: 23677138
Invest Ophthalmol Vis Sci. 2018 Aug 1;59(10):4123-4133
pubmed: 30105367
Saudi J Ophthalmol. 2018 Apr-Jun;32(2):134-138
pubmed: 29942183
Ophthalmol Retina. 2022 Oct;6(10):906-913
pubmed: 35513237
Optometry. 2009 Jul;80(7):384-401
pubmed: 19545852
Sci Rep. 2017 Sep 4;7(1):10347
pubmed: 28871101
J Biol Chem. 2014 Dec 26;289(52):35918-28
pubmed: 25359768
Am J Med Genet C Semin Med Genet. 2020 Sep;184(3):846-859
pubmed: 32888388
Am J Ophthalmol. 2021 Feb;222:60-68
pubmed: 32858027
Retina. 2020 Dec;40(12):2385-2395
pubmed: 31923123
Retina. 2020 Aug;40(8):1630-1633
pubmed: 31568063
Clin Neurophysiol. 2020 Jun;131(6):1383-1398
pubmed: 31866339
Prog Retin Eye Res. 2022 Mar;87:101000
pubmed: 34464742
Prog Retin Eye Res. 2018 Mar;63:107-131
pubmed: 29097191
Am J Ophthalmol. 2017 May;177:169-174
pubmed: 28237413
Med Hypothesis Discov Innov Ophthalmol. 2014 Summer;3(2):45-50
pubmed: 25738159
Am J Ophthalmol Case Rep. 2022 Feb 20;26:101444
pubmed: 35243176
Ther Adv Ophthalmol. 2020 Sep 22;12:2515841420954592
pubmed: 33015543
Invest Ophthalmol Vis Sci. 2011 Jul 01;52(7):4726-33
pubmed: 21436271
Transl Sci Rare Dis. 2019 Jul 04;4(1-2):97-115
pubmed: 31763178
Expert Rev Clin Immunol. 2016 Dec;12(12):1359-1362
pubmed: 27690673
Retina. 1997;17(3):222-31
pubmed: 9196934
Clin Rehabil. 2013 Jan;27(1):3-18
pubmed: 22734105
Eye (Lond). 1996;10 ( Pt 5):581-9
pubmed: 8977786
Prenat Diagn. 2015 Sep;35(9):913-8
pubmed: 26126503
Clin Ophthalmol. 2013;7:839-42
pubmed: 23674886
Stem Cell Res Ther. 2017 Sep 29;8(1):209
pubmed: 28962643
J Neurol Sci. 2002 Jun 15;198(1-2):25-9
pubmed: 12039660
Micromachines (Basel). 2020 May 24;11(5):
pubmed: 32456341
Invest Ophthalmol Vis Sci. 2013 Feb 01;54(2):1303-9
pubmed: 23329664
Retina. 2018 Jan;38(1):118-127
pubmed: 28590963
Genet Med. 2017 Feb;19(2):249-255
pubmed: 27854360