title: Retinal dystrophies, genomic applications in diagnosis and prospects for therapy.
abstract: Retinal dystrophies (RDs) are degenerative diseases of the retina which have marked clinical and genetic heterogeneity. Common presentations among these disorders include night or colour blindness, tunnel vision and subsequent progression to complete blindness. The known causative disease genes have a variety of developmental and functional roles with mutations in more than 120 genes shown to be responsible for the phenotypes. In addition, mutations within the same gene have been shown to cause different disease phenotypes, even amongst affected individuals within the same family highlighting further levels of complexity. The known disease genes encode proteins involved in retinal cellular structures, phototransduction, the visual cycle, and photoreceptor structure or gene regulation. This review aims to demonstrate the high degree of genetic complexity in both the causative disease genes and their associated phenotypes, highlighting the more common clinical manifestation of retinitis pigmentosa (RP). The review also provides insight to recent advances in genomic molecular diagnosis and gene and cell-based therapies for the RDs.
authors.affiliation: 1 Eye Genetics Research Group, Children's Medical Research Institute, University of Sydney, The Children's Hospital at Westmead and Save Sight Institute, Sydney, NSW, Australia ; 2 Sydney Genome Diagnostics, The Children's Hospital at Westmead, Sydney, NSW, Australia ; 3 Discipline of Paediatrics and Child Health, Sydney Medical School, University of Sydney, NSW, Australia.
authors.forename: Benjamin M
authors.initials: BM
authors.lastname: Nash
authors.affiliation: 1 Eye Genetics Research Group, Children's Medical Research Institute, University of Sydney, The Children's Hospital at Westmead and Save Sight Institute, Sydney, NSW, Australia ; 2 Sydney Genome Diagnostics, The Children's Hospital at Westmead, Sydney, NSW, Australia ; 3 Discipline of Paediatrics and Child Health, Sydney Medical School, University of Sydney, NSW, Australia.
authors.forename: Dale C
authors.initials: DC
authors.lastname: Wright
authors.affiliation: 1 Eye Genetics Research Group, Children's Medical Research Institute, University of Sydney, The Children's Hospital at Westmead and Save Sight Institute, Sydney, NSW, Australia ; 2 Sydney Genome Diagnostics, The Children's Hospital at Westmead, Sydney, NSW, Australia ; 3 Discipline of Paediatrics and Child Health, Sydney Medical School, University of Sydney, NSW, Australia.
authors.forename: John R
authors.initials: JR
authors.lastname: Grigg
authors.affiliation: 1 Eye Genetics Research Group, Children's Medical Research Institute, University of Sydney, The Children's Hospital at Westmead and Save Sight Institute, Sydney, NSW, Australia ; 2 Sydney Genome Diagnostics, The Children's Hospital at Westmead, Sydney, NSW, Australia ; 3 Discipline of Paediatrics and Child Health, Sydney Medical School, University of Sydney, NSW, Australia.
authors.forename: Bruce
authors.initials: B
authors.lastname: Bennetts
authors.affiliation: 1 Eye Genetics Research Group, Children's Medical Research Institute, University of Sydney, The Children's Hospital at Westmead and Save Sight Institute, Sydney, NSW, Australia ; 2 Sydney Genome Diagnostics, The Children's Hospital at Westmead, Sydney, NSW, Australia ; 3 Discipline of Paediatrics and Child Health, Sydney Medical School, University of Sydney, NSW, Australia.
authors.forename: Robyn V
authors.initials: RV
authors.lastname: Jamieson
keywords: CRISPR/Cas9; Retinal dystrophy (RD); massively parallel sequencing (MPS); retinitis pigmentosa (RP)
references.citation: Am J Hum Genet. 2011 Jul 15;89(1):183-90
references.pmid: 21763485
references.citation: Am J Hum Genet. 2006 Sep;79(3):574-9
references.pmid: 16909397
references.citation: Ophthalmology. 2014 Jan;121(1):399-407
references.pmid: 24144451
references.citation: Invest Ophthalmol Vis Sci. 2009 Apr;50(4):1864-72
references.pmid: 19074801
references.citation: Hum Mutat. 2013 Sep;34(9):E2393-402
references.pmid: 23843252
references.citation: Nat Genet. 1997 Oct;17(2):198-200
references.pmid: 9326942
references.citation: Am J Hum Genet. 2009 Aug;85(2):240-7
references.pmid: 19615668
references.citation: Proc Natl Acad Sci U S A. 1998 Mar 17;95(6):3088-93
references.pmid: 9501220
references.citation: J Biol Chem. 2014 Mar 7;289(10):6362-71
references.pmid: 24407289
references.citation: Proc Natl Acad Sci U S A. 2004 Dec 21;101(51):17819-24
references.pmid: 15591106
references.citation: Lancet. 2014 Mar 29;383(9923):1129-37
references.pmid: 24439297
references.citation: Ophthalmic Genet. 2015 ;36(4):349-52
references.pmid: 24547909
references.citation: Exp Eye Res. 2004 Aug;79(2):167-73
references.pmid: 15325563
references.citation: Am J Hum Genet. 2011 Feb 11;88(2):201-6
references.pmid: 21295283
references.citation: Am J Hum Genet. 2002 Apr;70(4):1049-53
references.pmid: 11857109
references.citation: Proc Natl Acad Sci U S A. 2005 Mar 29;102(13):4884-9
references.pmid: 15781871
references.citation: Am J Hum Genet. 2010 Sep 10;87(3):376-81
references.pmid: 20705278
references.citation: Am J Hum Genet. 2007 Nov;81(5):1098-103
references.pmid: 17924349
references.citation: Cell. 2013 Sep 12;154(6):1380-9
references.pmid: 23992846
references.citation: Hum Mol Genet. 1996 Jun;5(6):827-33
references.pmid: 8776599
references.citation: Am J Hum Genet. 2014 May 1;94(5):760-9
references.pmid: 24791901
references.citation: Am J Hum Genet. 2002 Apr;70(4):955-64
references.pmid: 11868161
references.citation: Hum Mol Genet. 1994 Jul;3(7):1047-51
references.pmid: 7981671
references.citation: Hum Mol Genet. 2004 May 15;13(10):1025-40
references.pmid: 15028672
references.citation: Am J Hum Genet. 2009 May;84(5):683-91
references.pmid: 19409519
references.citation: Invest Ophthalmol Vis Sci. 2013 Jul 12;54(7):4683-90
references.pmid: 23788369
references.citation: Am J Hum Genet. 2012 Sep 7;91(3):527-32
references.pmid: 22901948
references.citation: Am J Hum Genet. 2009 Nov;85(5):581-92
references.pmid: 19853238
references.citation: Invest Ophthalmol Vis Sci. 2012 Jun 22;53(7):3927-38
references.pmid: 22570351
references.citation: J Med Genet. 2007 Feb;44(2):153-60
references.pmid: 16963483
references.citation: Nature. 2012 Nov 1;491(7422):56-65
references.pmid: 23128226
references.citation: Nature. 2006 Nov 9;444(7116):203-7
references.pmid: 17093405
references.citation: J Med Genet. 2010 Aug;47(8):533-7
references.pmid: 20507925
references.citation: Nat Genet. 2008 Nov;40(11):1285-7
references.pmid: 18836446
references.citation: Invest Ophthalmol Vis Sci. 2008 Nov;49(11):5015-23
references.pmid: 18487367
references.citation: Hum Mol Genet. 2014 Jun 1;23(11):2926-39
references.pmid: 24419317
references.citation: Proc Natl Acad Sci U S A. 2006 Aug 22;103(34):12769-74
references.pmid: 16908856
references.citation: Arch Ophthalmol. 2001 Jan;119(1):96-105
references.pmid: 11146732
references.citation: Nat Genet. 2001 Jun;28(2):123-4
references.pmid: 11381255
references.citation: Genomics. 2003 Mar;81(3):304-14
references.pmid: 12659814
references.citation: Nat Genet. 2008 Oct;40(10):1230-4
references.pmid: 18806796
references.citation: Invest Ophthalmol Vis Sci. 2007 Dec;48(12):5690-8
references.pmid: 18055821
references.citation: Am J Hum Genet. 2011 Feb 11;88(2):207-15
references.pmid: 21295282
references.citation: Proc Biol Sci. 2011 May 22;278(1711):1489-97
references.pmid: 21047851
references.citation: Proc Natl Acad Sci U S A. 2011 Aug 23;108(34):E569-76
references.pmid: 21825139
references.citation: Retina. 2011 Mar;31(3):626-8
references.pmid: 21336075
references.citation: Arch Ophthalmol. 2011 Nov;129(11):1475-82
references.pmid: 22084217
references.citation: Invest Ophthalmol Vis Sci. 2005 Nov;46(11):4328-35
references.pmid: 16249515
references.citation: Mol Vis. 2005 Nov 02;11:922-8
references.pmid: 16280978
references.citation: Hum Mol Genet. 2015 Jun 1;24(11):3104-18
references.pmid: 25701872
references.citation: Ophthalmology. 2011 Jul;118(7):1444-8
references.pmid: 21310491
references.citation: Nat Genet. 1995 Dec;11(4):468-71
references.pmid: 7493036
references.citation: Hum Mol Genet. 2000 Jan 1;9(1):27-34
references.pmid: 10587575
references.citation: Eur J Hum Genet. 2002 Apr;10(4):245-9
references.pmid: 12032732
references.citation: Am J Hum Genet. 2009 Nov;85(5):720-9
references.pmid: 19896113
references.citation: Hum Mol Genet. 1998 Sep;7(9):1517-25
references.pmid: 9700209
references.citation: Am J Hum Genet. 2013 Aug 8;93(2):321-9
references.pmid: 23849777
references.citation: EMBO Mol Med. 2014 Aug 04;6(9):1175-90
references.pmid: 25092770
references.citation: Nature. 1991 Dec 12;354(6353):478-80
references.pmid: 1749427
references.citation: N Engl J Med. 1990 Nov 8;323(19):1302-7
references.pmid: 2215617
references.citation: Invest Ophthalmol Vis Sci. 2001 Jan;42(1):31-7
references.pmid: 11133845
references.citation: Am J Hum Genet. 1998 Mar;62(3):503-8
references.pmid: 9497269
references.citation: Hum Mol Genet. 1997 Apr;6(4):597-600
references.pmid: 9097965
references.citation: Am J Hum Genet. 2001 May;68(5):1295-8
references.pmid: 11283794
references.citation: Hum Genet. 2001 Feb;108(2):91-7
references.pmid: 11281458
references.citation: J Med Genet. 2010 Oct;47(10):665-9
references.pmid: 20805371
references.citation: PLoS One. 2014 Nov 10;9(11):e111754
references.pmid: 25383878
references.citation: Nat Genet. 1993 Jun;4(2):130-4
references.pmid: 8394174
references.citation: J Neurosci. 2001 Aug 1;21(15):5449-60
references.pmid: 11466416
references.citation: Hum Mol Genet. 2011 Apr 15;20(8):1625-32
references.pmid: 21282186
references.citation: PLoS One. 2011 Apr 29;6(4):e18992
references.pmid: 21559507
references.citation: Nat Genet. 2000 Nov;26(3):319-23
references.pmid: 11062471
references.citation: Nat Genet. 1997 Oct;17(2):139-41
references.pmid: 9326927
references.citation: Nature. 1991 Dec 12;354(6353):480-3
references.pmid: 1684223
references.citation: JAMA Ophthalmol. 2015 Jun;133(6):653-61
references.pmid: 25789692
references.citation: J Med Genet. 2014 Jul;51(7):444-8
references.pmid: 24737827
references.citation: Am J Hum Genet. 2009 Nov;85(5):617-27
references.pmid: 19878916
references.citation: Nat Genet. 1994 May;7(1):64-8
references.pmid: 8075643
references.citation: Hum Mutat. 2005 Mar;25(3):248-58
references.pmid: 15712225
references.citation: Invest Ophthalmol Vis Sci. 2007 Aug;48(8):3459-68
references.pmid: 17652713
references.citation: Am J Hum Genet. 2006 Nov;79(5):973-7
references.pmid: 17033974
references.citation: J Gene Med. 2014 May-Jun;16(5-6):122-30
references.pmid: 24962736
references.citation: Am J Hum Genet. 2010 Aug 13;87(2):258-64
references.pmid: 20655036
references.citation: Invest Ophthalmol Vis Sci. 2014 May 29;55(6):3939-53
references.pmid: 24876279
references.citation: Genome Res. 2010 Sep;20(9):1297-303
references.pmid: 20644199
references.citation: Mol Vis. 2010 Jan 15;16:46-52
references.pmid: 20087419
references.citation: Nat Genet. 1996 Jul;13(3):358-60
references.pmid: 8673138
references.citation: Invest Ophthalmol Vis Sci. 2011 Dec 28;52(13):9665-73
references.pmid: 22110072
references.citation: Invest Ophthalmol Vis Sci. 2001 Sep;42(10):2395-400
references.pmid: 11527955
references.citation: Nat Genet. 1999 Apr;21(4):355-6
references.pmid: 10192380
references.citation: Invest Ophthalmol Vis Sci. 2000 Oct;41(11):3268-77
references.pmid: 11006213
references.citation: Nat Genet. 1998 Jan;18(1):11-2
references.pmid: 9425888
references.citation: Am J Hum Genet. 2010 Sep 10;87(3):382-91
references.pmid: 20705279
references.citation: Mol Vis. 2009 Nov 21;15:2442-7
references.pmid: 19956411
references.citation: Genomics. 1995 May 20;27(2):384-6
references.pmid: 7558016
references.citation: PLoS One. 2013 Nov 12;8(11):e78496
references.pmid: 24265693
references.citation: Hum Gene Ther Clin Dev. 2013 Mar;24(1):23-8
references.pmid: 23692380
references.citation: Mol Vis. 2006 Dec 06;12:1558-64
references.pmid: 17200655
references.citation: Invest Ophthalmol Vis Sci. 2004 Jun;45(6):1975-82
references.pmid: 15161866
references.citation: Hum Mol Genet. 2001 Jul 15;10(15):1555-62
references.pmid: 11468273
references.citation: Hum Mol Genet. 2000 Sep 1;9(14):2107-16
references.pmid: 10958649
references.citation: Arch Ophthalmol. 2009 Aug;127(8):1077-8
references.pmid: 19667359
references.citation: Nat Genet. 2004 Aug;36(8):850-4
references.pmid: 15258582
references.citation: Vis Neurosci. 2000 Sep-Oct;17(5):667-78
references.pmid: 11153648
references.citation: Eur J Hum Genet. 2011 Oct;19(10):1074-81
references.pmid: 21654732
references.citation: Am J Ophthalmol. 2010 May;149(5):861-6
references.pmid: 20227676
references.citation: Nat Commun. 2014 Mar 27;5:3517
references.pmid: 24670872
references.citation: Int J Mol Med. 2014 Aug;34(2):573-7
references.pmid: 24913019
references.citation: Nat Methods. 2010 Aug;7(8):575-6
references.pmid: 20676075
references.citation: Nat Genet. 1998 Jul;19(3):241-7
references.pmid: 9662395
references.citation: Arch Ophthalmol. 1998 Apr;116(4):498-501
references.pmid: 9565049
references.citation: J Clin Invest. 2010 Sep;120(9):3042-53
references.pmid: 20811160
references.citation: Mol Vis. 2010 Feb 10;16:207-12
references.pmid: 20157620
references.citation: Invest Ophthalmol Vis Sci. 2006 Apr;47(4):1630-5
references.pmid: 16565402
references.citation: Mol Vis. 2014 Apr 26;20:553-60
references.pmid: 24791140
references.citation: N Engl J Med. 2008 May 22;358(21):2231-9
references.pmid: 18441371
references.citation: Ophthalmic Genet. 2015;36(3):193-212
references.pmid: 24328569
references.citation: Nat Genet. 1998 Aug;19(4):327-32
references.pmid: 9697692
references.citation: Am J Hum Genet. 2009 Feb;84(2):266-73
references.pmid: 19200525
references.citation: Invest Ophthalmol Vis Sci. 1999 Jul;40(8):1859-65
references.pmid: 10393062
references.citation: PLoS One. 2014 Mar 14;9(3):e91962
references.pmid: 24632595
references.citation: Am J Hum Genet. 2009 Jun;84(6):792-800
references.pmid: 19520207
references.citation: Am J Hum Genet. 2008 Nov;83(5):594-603
references.pmid: 18976725
references.citation: Nat Genet. 1999 Jul;22(3):248-54
references.pmid: 10391211
references.citation: Hum Mol Genet. 2014 Jun 15;23 (12 ):3200-11
references.pmid: 24463883
references.citation: Nat Genet. 1997 Feb;15(2):175-8
references.pmid: 9020843
references.citation: Science. 1994 Jun 10;264(5165):1604-8
references.pmid: 8202715
references.citation: Am J Hum Genet. 2011 May 13;88(5):643-9
references.pmid: 21549338
references.citation: Am J Ophthalmol. 2014 Jun;157(6):1282-90
references.pmid: 24560994
references.citation: Am J Hum Genet. 1998 Nov;63(5):1307-15
references.pmid: 9792858
references.citation: Proc Natl Acad Sci U S A. 2004 Apr 27;101(17):6617-22
references.pmid: 15090652
references.citation: J Neurosci. 2009 Apr 8;29(14):4616-21
references.pmid: 19357286
references.citation: Am J Hum Genet. 2014 Apr 3;94(4):625-33
references.pmid: 24680887
references.citation: Nat Methods. 2010 Apr;7(4):248-9
references.pmid: 20354512
references.citation: Nat Genet. 1998 Jul;19(3):264-7
references.pmid: 9662400
references.citation: Orphanet J Rare Dis. 2012 Jan 25;7:8
references.pmid: 22277662
references.citation: Mol Vis. 2010 Mar 09;16:369-77
references.pmid: 20300561
references.citation: Am J Hum Genet. 2004 Jan;74(1):128-38
references.pmid: 14681825
references.citation: Nat Genet. 2007 Jul;39(7):889-95
references.pmid: 17546029
references.citation: Science. 1993 Jan 15;259(5093):377-81
references.pmid: 8380507
references.citation: Ophthalmology. 2012 Apr;119(4):819-26
references.pmid: 22264887
references.citation: Clin Genet. 2008 Apr;73(4):360-6
references.pmid: 18294254
references.citation: JAMA Ophthalmol. 2015 Feb;133(2):133-9
references.pmid: 25356532
references.citation: Proc Natl Acad Sci U S A. 2007 Mar 13;104(11):4413-8
references.pmid: 17360538
references.citation: Invest Ophthalmol Vis Sci. 1995 Aug;36(9):1934-42
references.pmid: 7635666
references.citation: Hum Mol Genet. 2014 Sep 15;23(R1):R9-R16
references.pmid: 24647603
references.citation: Am J Hum Genet. 2010 May 14;86(5):805-12
references.pmid: 20451172
references.citation: Ophthalmology. 2013 Nov;120(11):2338-43
references.pmid: 23725738
references.citation: Gene Ther. 2014 Jul;21(7):662-72
references.pmid: 24807808
references.citation: Lancet. 2006 Nov 18;368(9549):1795-809
references.pmid: 17113430
references.citation: Hum Mutat. 2002 Sep;20(3):189-96
references.pmid: 12203991
references.citation: J Neurosci. 2005 Jan 19;25(3):748-57
references.pmid: 15659613
references.citation: Graefes Arch Clin Exp Ophthalmol. 2005 Mar;243(3):235-42
references.pmid: 15452722
references.citation: Am J Hum Genet. 2010 Sep 10;87(3):400-9
references.pmid: 20797688
references.citation: Nat Genet. 1998 Jul;19(3):257-9
references.pmid: 9662398
references.citation: Nat Genet. 2012 Sep;44(9):1040-5
references.pmid: 22842227
references.citation: BMC Proc. 2014 Jun 17;8(Suppl 1 Genetic Analysis Workshop 18Vanessa Olmo):S38
references.pmid: 25519383
references.citation: Invest Ophthalmol Vis Sci. 2009 Dec;50(12):5944-54
references.pmid: 19578027
references.citation: Nat Genet. 1999 Jul;22(3):255-9
references.pmid: 10391212
references.citation: J Med Genet. 2003 Aug;40(8):616-9
references.pmid: 12920076
references.citation: Prog Retin Eye Res. 2014 Sep;42:1-26
references.pmid: 24857951
references.citation: Gene. 2000 Mar 21;245(2):311-8
references.pmid: 10717482
references.citation: Am J Hum Genet. 2010 May 14;86(5):686-95
references.pmid: 20398886
references.citation: Genomics. 2006 Nov;88(5):551-63
references.pmid: 16938425
references.citation: Eur J Hum Genet. 2007 Jun;15(6):664-71
references.pmid: 17377520
references.citation: Am J Hum Genet. 2001 Jul;69(1):198-203
references.pmid: 11389483
references.citation: J Med Genet. 2007 Jun;44(6):373-80
references.pmid: 17237123
references.citation: Graefes Arch Clin Exp Ophthalmol. 2011 Oct;249(10):1527-35
references.pmid: 21866333
references.citation: Nat Genet. 1996 May;13(1):35-42
references.pmid: 8673101
references.citation: Invest Ophthalmol Vis Sci. 2011 May 09;52(6):3032-8
references.pmid: 21310915
references.citation: Cell. 1997 Nov 14;91(4):543-53
references.pmid: 9390563
references.citation: Invest Ophthalmol Vis Sci. 2012 Jun 08;53(7):3463-72
references.pmid: 22531706
references.citation: Ophthalmology. 2005 Jan;112(1):159-66
references.pmid: 15629837
references.citation: Exp Eye Res. 1997 Aug;65(2):249-53
references.pmid: 9268593
references.citation: Am J Hum Genet. 1992 Mar;50(3):498-507
references.pmid: 1531728
references.citation: Hum Mutat. 2011 Aug;32(8):894-9
references.pmid: 21520341
references.citation: J Med Genet. 2006 Apr;43(4):378-81
references.pmid: 16199541
references.citation: Am J Hum Genet. 2009 Mar;84(3):380-7
references.pmid: 19268277
references.citation: Am J Hum Genet. 2004 Oct;75(4):639-46
references.pmid: 15322982
references.citation: Invest Ophthalmol Vis Sci. 2011 Feb 11;52(2):834-9
references.pmid: 20881296
references.citation: J Cell Biol. 2010 Sep 20;190(6):953-63
references.pmid: 20855501
references.citation: Acta Ophthalmol Scand Suppl. 2002;(233):1-34
references.pmid: 11921605
references.citation: Hum Mol Genet. 2002 Mar 1;11(5):559-68
references.pmid: 11875050
references.citation: Nat Genet. 1996 Dec;14(4):461-4
references.pmid: 8944027
references.citation: Arch Ophthalmol. 2007 Feb;125(2):151-8
references.pmid: 17296890
references.citation: Am J Hum Genet. 2009 Nov;85(5):730-6
references.pmid: 19896109
references.citation: Mol Vis. 2007 Aug 30;13:1539-47
references.pmid: 17893653
references.citation: Nat Genet. 1992 Jun;1(3):209-13
references.pmid: 1303237
references.citation: Am J Hum Genet. 2006 Oct;79(4):657-67
references.pmid: 16960802
references.citation: Hum Mol Genet. 2015 Jun 1;24(11):3220-37
references.pmid: 25712131
references.citation: Hum Mol Genet. 2013 Apr 1;22(7):1432-42
references.pmid: 23307924
references.citation: Hum Mol Genet. 2002 Jan 1;11(1):87-92
references.pmid: 11773002
references.citation: Mol Vis. 2014 Mar 26;20:359-67
references.pmid: 24715753
references.citation: Eur J Hum Genet. 2002 Aug;10(8):449-56
references.pmid: 12111638
references.citation: Invest Ophthalmol Vis Sci. 2003 Oct;44(10):4204-9
references.pmid: 14507862
references.citation: Ophthalmic Genet. 2014 Sep;35(3):142-50
references.pmid: 24828262
references.citation: Nat Genet. 2001 May;28(1):92-5
references.pmid: 11326284
references.citation: Invest Ophthalmol Vis Sci. 2000 Nov;41(12):3925-32
references.pmid: 11053295
references.citation: Nat Protoc. 2009;4(7):1073-81
references.pmid: 19561590
references.citation: Invest Ophthalmol Vis Sci. 2004 Nov;45(11):4167-73
references.pmid: 15505071
references.citation: Am J Ophthalmol. 2015 Feb;159(2):302-14
references.pmid: 25447119
references.citation: J Med Genet. 2006 Aug;43(8):699-704
references.pmid: 16505158
references.citation: Mol Cell. 2001 Aug;8(2):375-81
references.pmid: 11545739
references.citation: Mol Vis. 2009 Nov 24;15:2464-9
references.pmid: 19956407
references.citation: Am J Hum Genet. 2007 Jul;81(1):147-57
references.pmid: 17564971
references.citation: Invest Ophthalmol Vis Sci. 2008 Sep;49(9):3799-805
references.pmid: 18450588
references.citation: Am J Hum Genet. 2000 Oct;67(4):960-6
references.pmid: 10958761
references.citation: Invest Ophthalmol Vis Sci. 2009 Nov;50(11):5107-14
references.pmid: 19516003
references.citation: Am J Hum Genet. 2012 Jan 13;90(1):102-9
references.pmid: 22177090
references.citation: Am J Hum Genet. 2013 Jul 11;93(1):110-7
references.pmid: 23746546
references.citation: Nat Genet. 1998 Apr;18(4):311-2
references.pmid: 9537410
references.citation: Hum Mol Genet. 1996 Jul;5(7):1035-41
references.pmid: 8817343
references.citation: Ophthalmology. 2013 Dec;120(12):2697-705
references.pmid: 24084495
references.citation: Am J Hum Genet. 2006 Dec;79(6):1059-70
references.pmid: 17186464
references.citation: Arch Ophthalmol. 2012 Jan;130(1):9-24
references.pmid: 21911650
references.citation: Ophthalmology. 2013 Nov;120(11):2332-7
references.pmid: 23755871
references.citation: Proc Natl Acad Sci U S A. 2013 Oct 1;110(40):16139-44
references.pmid: 24043777
references.citation: Nat Genet. 2000 Jan;24(1):79-83
references.pmid: 10615133
references.citation: Bioinformatics. 2009 Jul 15;25(14):1754-60
references.pmid: 19451168
references.citation: Ophthalmic Genet. 2015;36(4):333-8
references.pmid: 24547928
references.citation: Hum Genet. 2007 Nov;122(3-4):293-9
references.pmid: 17605048
references.citation: Nat Genet. 1999 Dec;23(4):393-4
references.pmid: 10581022
references.citation: Science. 2013 Feb 15;339(6121):823-6
references.pmid: 23287722
references.citation: BMC Bioinformatics. 2013;14 Suppl 11:S1
references.pmid: 24564169
references.citation: Nat Genet. 2000 Nov;26(3):270-1
references.pmid: 11062461
references.citation: Mol Genet Metab. 2000 Jun;70(2):142-50
references.pmid: 10873396
references.citation: Neuron. 1997 Nov;19(5):1017-30
references.pmid: 9390516
references.citation: Nat Genet. 1998 Feb;18(2):177-9
references.pmid: 9462751
references.citation: Am J Hum Genet. 2006 Sep;79(3):556-61
references.pmid: 16909394
references.citation: Am J Hum Genet. 2000 Jun;66(6):1975-8
references.pmid: 10775529
references.citation: Ophthalmology. 2012 Apr;119(4):779-88
references.pmid: 22244176
references.citation: Exp Cell Res. 2004 Nov 1;300(2):283-96
references.pmid: 15474994
references.citation: Nat Genet. 2012 Sep;44(9):975-7
references.pmid: 22842229
references.citation: Eur J Hum Genet. 2005 Mar;13(3):302-8
references.pmid: 15657609
references.citation: Nat Struct Mol Biol. 2007 Nov;14(11):1077-83
references.pmid: 17934474
references.citation: Adv Exp Med Biol. 2010;664:325-31
references.pmid: 20238032
references.citation: Hum Mutat. 2012 Jun;33(6):963-72
references.pmid: 22334370
references.citation: J Mol Genet Med. 2012;6:301-3
references.pmid: 23300508
references.citation: Proc Natl Acad Sci U S A. 1995 Oct 24;92(22):10177-81
references.pmid: 7479749
references.citation: Invest Ophthalmol Vis Sci. 2004 Aug;45(8):2767-77
references.pmid: 15277503
references.citation: Neuron. 1997 Dec;19(6):1329-36
references.pmid: 9427255
references.citation: Am J Hum Genet. 2010 Aug 13;87(2):199-208
references.pmid: 20673862
references.citation: Invest Ophthalmol Vis Sci. 2007 Dec;48(12):5684-9
references.pmid: 18055820
references.citation: Mol Vis. 2008;14:2357-66
references.pmid: 19096719
references.citation: Mol Syst Biol. 2013;9:641
references.pmid: 23340847
references.citation: Am J Hum Genet. 2009 Feb;84(2):259-65
references.pmid: 19200527
references.citation: Nat Genet. 1995 Jul;10(3):360-2
references.pmid: 7670478
references.citation: Invest Ophthalmol Vis Sci. 2011 Jul 29;52(8):5625-31
references.pmid: 21519034
references.citation: Genome Res. 2013 Feb;23(2):236-47
references.pmid: 23105016
references.citation: Mol Vis. 2010 Dec 03;16:2550-8
references.pmid: 21151602
references.citation: Hum Mol Genet. 2011 Mar 1;20(5):975-87
references.pmid: 21159800
references.citation: Hum Mol Genet. 1994 Jul;3(7):1195-6
references.pmid: 7981698
references.citation: Mol Vis. 2009 Aug 28;15:1709-16
references.pmid: 19718270
references.citation: Invest Ophthalmol Vis Sci. 2006 Jan;47(1):34-42
references.pmid: 16384941
references.citation: Am J Pathol. 2014 Oct;184(10 ):2641-52
references.pmid: 25111227
references.citation: Mol Vis. 2013 Nov 24;19:2407-17
references.pmid: 24319334
references.citation: Hum Genet. 2001 Apr;108(4):328-34
references.pmid: 11379879
references.citation: Hum Mol Genet. 1999 Feb;8(2):299-305
references.pmid: 9931337
references.citation: Hum Mol Genet. 1998 Feb;7(2):273-7
references.pmid: 9425234
references.citation: Invest Ophthalmol Vis Sci. 2008 Sep;49(9):4105-14
references.pmid: 18487375
references.citation: Am J Ophthalmol. 2009 Mar;147(3):518-530.e1
references.pmid: 19038374
references.citation: Nat Genet. 1993 Jul;4(3):280-3
references.pmid: 8358437
references.citation: Nat Genet. 1998 Jul;19(3):260-3
references.pmid: 9662399
references.citation: Hum Mutat. 2011 Jun;32(6):E2246-58
references.pmid: 21618346
references.citation: Mol Vis. 2012;18:1226-37
references.pmid: 22665969
references.citation: Clin Exp Ophthalmol. 2015 Mar;43(2):132-8
references.pmid: 25060287
references.citation: Nat Genet. 1999 Oct;23(2):217-21
references.pmid: 10508521
references.citation: J Neurosci. 1992 Aug;12(8):3248-56
references.pmid: 1379636
references.citation: Am J Hum Genet. 2010 May 14;86(5):783-8
references.pmid: 20398884
references.citation: Am J Hum Genet. 2002 Aug;71(2):422-5
references.pmid: 12077706
references.citation: Hum Mutat. 2004 Apr;23(4):306-17
references.pmid: 15024725
references.citation: Invest Ophthalmol Vis Sci. 2013 Jun 26;54(6):4351-7
references.pmid: 23661368
references.citation: Hum Mol Genet. 2005 Oct 15;14(20):3035-46
references.pmid: 16155113
references.citation: Invest Ophthalmol Vis Sci. 2003 Jan;44(1):378-84
references.pmid: 12506099