title: Reduced rod electroretinograms in carrier parents of two Japanese siblings with autosomal recessive retinitis pigmentosa associated with PDE6B gene mutations.
abstract: OBJECTIVE
  To present the clinical and genetic findings in two siblings with autosomal recessive retinitis pigmentosa (RP) and their non-symptomatic parents.
  
  
  METHODS
  We studied two siblings, a 48-year-old woman and her 44-year-old brother, and their parents. They had general ophthalmic examinations including ophthalmoscopy, perimetry, and electroretinography (ERG). Their whole exomes were analyzed by the next-generation sequence technique.
  
  
  RESULTS
  The two siblings had night blindness for a long time, and clinical examinations revealed diffuse retinal degeneration with bone spicule pigmentation, constriction of the visual field, and non-recordable ERGs. Their parents were non-symptomatic and had normal fundi; however, their rod ERGs were reduced. Genetic examination revealed compound heterozygous mutations of I535N and H557Y in the PDE6B gene in the siblings, and the parents were heterozygous carriers of the mutations.
  
  
  CONCLUSIONS
  Heterozygous mutation in the PDE6B gene can cause a reduction in the rod function to different degrees. The retinal function of non-symptomatic carriers of autosomal recessive RP should be evaluated with care.
authors.affiliation: Department of Ophthalmology, Kinki University Faculty of Medicine, 377-2 Ohno-Higashi, Osaka-Sayama City, Osaka, 589-8511, Japan, kuniyoshi-kazuki@umin.net.
authors.forename: Kazuki
authors.initials: K
authors.lastname: Kuniyoshi
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Sakuramoto
authors.forename: Kazutoshi
authors.initials: K
authors.lastname: Yoshitake
authors.forename: Kazuho
authors.initials: K
authors.lastname: Ikeo
authors.forename: Masaaki
authors.initials: M
authors.lastname: Furuno
authors.forename: Kazushige
authors.initials: K
authors.lastname: Tsunoda
authors.forename: Shunji
authors.initials: S
authors.lastname: Kusaka
authors.forename: Yoshikazu
authors.initials: Y
authors.lastname: Shimomura
authors.forename: Takeshi
authors.initials: T
authors.lastname: Iwata
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D044466:Asian People / Q000235:genetics*; D054707:Cyclic Nucleotide Phosphodiesterases, Type 6 / Q000235:genetics*; D004596:Electroretinography; D059472:Exome / Q000235:genetics; D005260:Female; D006579:Heterozygote; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D007564:Japan; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D010775:Photic Stimulation; D017948:Retinal Rod Photoreceptor Cells / Q000502:physiology*; D012174:Retinitis Pigmentosa / Q000235:genetics* / Q000503:physiopathology; D035781:Siblings; D014786:Vision Disorders / Q000503:physiopathology; D014792:Visual Acuity / Q000502:physiology; D058609:Visual Field Tests; D014794:Visual Fields / Q000502:physiology
chemical_list: D054707:Cyclic Nucleotide Phosphodiesterases, Type 6; C517431:PDE6B protein, human
references.citation: Eur J Hum Genet. 2009 Apr;17(4):474-82
references.pmid: 18854872
references.citation: Mol Vis. 2012;18:2398-410
references.pmid: 23049240
references.citation: Mol Vis. 1996 Sep 17;2:10
references.pmid: 9238087
references.citation: Hum Mutat. 1996;8(4):393-4
references.pmid: 8956055
references.citation: Curr Protoc Hum Genet. 2013 Jan;Chapter 7:Unit7.20
references.pmid: 23315928
references.citation: Nat Genet. 1993 Jun;4(2):130-4
references.pmid: 8394174
references.citation: Proc Natl Acad Sci U S A. 1995 Apr 11;92(8):3249-53
references.pmid: 7724547
references.citation: Nat Genet. 1994 May;7(1):64-8
references.pmid: 8075643
references.citation: PLoS One. 2014 Apr 23;9(4):e95768
references.pmid: 24760071
references.citation: Genomics. 1995 Nov 1;30(1):1-7
references.pmid: 8595886
references.citation: Nucleic Acids Res. 1991 Nov 25;19(22):6263-8
references.pmid: 1720239
references.citation: Mol Vis. 2011;17:1373-80
references.pmid: 21655355
references.citation: J Med Genet. 2008 Jul;45(7):465-72
references.pmid: 18310263
references.citation: Invest Ophthalmol Vis Sci. 2008 Oct;49(10):4278-83
references.pmid: 18586879
references.citation: Doc Ophthalmol. 2015 Feb;130(1):1-12
references.pmid: 25502644
references.citation: Am J Ophthalmol. 2008 Nov;146(5):780-8
references.pmid: 18723146
references.citation: Invest Ophthalmol Vis Sci. 2008 Nov;49(11):5067-76
references.pmid: 18658088
references.citation: Hum Mutat. 2007 Mar;28(3):243-54
references.pmid: 17044014
references.citation: Doc Ophthalmol. 2014 Jun;128(3):219-28
references.pmid: 24752437
references.citation: Curr Eye Res. 1998 Mar;17(3):332-5
references.pmid: 9543643
references.citation: Hum Genet. 1996 Jan;97(1):35-8
references.pmid: 8557257
references.citation: Ophthalmic Genet. 2014 Sep;35(3):142-50
references.pmid: 24828262
references.citation: Hum Mutat. 1995;5(3):228-34
references.pmid: 7599633
references.citation: Mol Vis. 2013 Dec 08;19:2487-500
references.pmid: 24339724
references.citation: Adv Exp Med Biol. 2010;664:491-9
references.pmid: 20238051
references.citation: Hum Mutat. 2012 Jun;33(6):963-72
references.pmid: 22334370
references.citation: Invest Ophthalmol Vis Sci. 2011 Jul 29;52(8):5713-9
references.pmid: 21273543
references.citation: Nature. 1990 Oct 18;347(6294):677-80
references.pmid: 1977087