title: X-Linked Retinoschisis: Phenotypic Variability in a Chinese Family.
abstract: X-linked juvenile retinoschisis (XLRS), a leading cause of juvenile macular degeneration, is characterized by a spoke-wheel pattern in the macular region of the retina and splitting of the neurosensory retina. Our study is to describe the clinical characteristics of a four generations of this family (a total of 18 members)with X-linked retinoschisis (XLRS) and detected a novel mutations of c.3G > A (p.M1?) in the initiation codon of the RS1 gene. by direct sequencing.Identification of this mutation in this family provides evidence about potential genetic or environmental factors on its phenotypic variance, as patients presented with different phenotypes regardless of having the same mutation. Importantly, OCT has proven vital for XLRS diagnosis in children.
authors.affiliation: Department of Ophthalmology, Second Xiangya Hospital, Central South University, Changsha, Hunan, China.
authors.forename: Yangyan
authors.initials: Y
authors.lastname: Xiao
authors.affiliation: Department of Ophthalmology, Second Xiangya Hospital, Central South University, Changsha, Hunan, China.
authors.forename: Xiao
authors.initials: X
authors.lastname: Liu
authors.affiliation: Department of Ophthalmology, Second Xiangya Hospital, Central South University, Changsha, Hunan, China.
authors.forename: Luosheng
authors.initials: L
authors.lastname: Tang
authors.affiliation: Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.
authors.forename: Xia
authors.initials: X
authors.lastname: Wang
authors.forename: Terry G
authors.initials: TG
authors.lastname: Coursey
authors.affiliation: Cullen eye institute, Baylor College of Medicine, Houston, Texas, USA.
authors.forename: Terry
authors.initials: T
authors.lastname: Coursy
authors.affiliation: Department of Ophthalmology, Second Xiangya Hospital, Central South University, Changsha, Hunan, China.
authors.forename: Xiaojian
authors.initials: X
authors.lastname: Guo
authors.affiliation: Department of Ophthalmology, Second Xiangya Hospital, Central South University, Changsha, Hunan, China.
authors.forename: Zhuo
authors.initials: Z
authors.lastname: Li
mesh_terms: D000328:Adult; D000369:Aged, 80 and over; D044466:Asian People; D002681:China; D018387:Codon, Initiator / Q000235:genetics* / Q000378:metabolism; D005136:Eye Proteins / Q000235:genetics* / Q000378:metabolism; D005190:Family; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D041441:Retinoschisis / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism / Q000473:pathology
chemical_list: D018387:Codon, Initiator; D005136:Eye Proteins; C108726:RS1 protein, human
references.citation: Genetics. 2008 Mar;178(3):1785-94
references.pmid: 18245825
references.citation: J Biol Chem. 2007 Nov 9;282(45):32792-801
references.pmid: 17804407
references.citation: Retina. 2011 Jun;31(6):1186-92
references.pmid: 21386765
references.citation: J Neurosci. 2012 Sep 19;32(38):13010-21
references.pmid: 22993419
references.citation: Br J Ophthalmol. 1995 Jul;79(7):697-702
references.pmid: 7662639
references.citation: Nat Genet. 1997 Oct;17(2):164-70
references.pmid: 9326935
references.citation: Mol Vis. 2010;16:1593-600
references.pmid: 20806044
references.citation: Hum Mol Genet. 2013 Dec 1;22(23):4756-67
references.pmid: 23847049
references.citation: Retina. 2006 Sep;26(7 Suppl):S61-4
references.pmid: 16946682
references.citation: Hum Mutat. 2010 Nov;31(11):1251-60
references.pmid: 20809529
references.citation: Hum Mutat. 1999;13(4):338
references.pmid: 10220153
references.citation: Ophthalmic Genet. 2012 Jun;33(2):77-82
references.pmid: 22171610
references.citation: Invest Ophthalmol Vis Sci. 2009 Jun;50(6):2989-93
references.pmid: 19182246
references.citation: Doc Ophthalmol. 2008 Mar;116(2):97-109
references.pmid: 17987333
references.citation: J Biol Chem. 2003 Jul 25;278(30):28139-46
references.pmid: 12746437
references.citation: Ophthalmology. 2013 Jul;120(7):1454-64
references.pmid: 23453514
references.citation: Am J Ophthalmol. 2007 Sep;144(3):419-423
references.pmid: 17631851
references.citation: Am J Ophthalmol. 2010 Jun;149(6):973-978.e2
references.pmid: 20430364
references.citation: Mol Vis. 2007;13:611-7
references.pmid: 17515881
references.citation: Retina. 2006 Oct;26(8):940-6
references.pmid: 17031297
references.citation: Mol Vis. 2008;14:2321-32
references.pmid: 19093009
references.citation: Mol Med Rep. 2010 May-Jun;3(3):469-71
references.pmid: 21472264
references.citation: Mol Vis. 2006;12:1108-16
references.pmid: 17093404
references.citation: Vision Res. 2001 Dec;41(28):3931-42
references.pmid: 11738458
references.citation: Hum Mol Genet. 2000 Jul 22;9(12):1873-9
references.pmid: 10915776
references.citation: Transl Vis Sci Technol. 2014 Oct 3;3(5):5
references.pmid: 25346871
references.citation: Hum Mol Genet. 1998 Jul;7(7):1185-92
references.pmid: 9618178
references.citation: Hum Mol Genet. 2010 Apr 1;19(7):1302-13
references.pmid: 20061330