title: Two siblings with late-onset cone-rod dystrophy and no visible macular degeneration.
abstract: BACKGROUND
  We report our findings in two siblings with late-onset cone-rod dystrophy (CRD) with no visible macular degeneration.
  
  
  METHODS
  Case 1 was an 82-year-old man who first noticed a decrease in vision and color blindness in his early seventies. His mother and younger sister also had visual disturbances. His decimal visual acuity was 0.3 in the right eye and 0.2 in the left eye. Ophthalmoscopy showed normal fundi, and fluorescein angiography was also normal in both eyes. The photopic single flash and flicker eletroretinograms (ERGs) were severely attenuated and the scotopic ERGs were slightly reduced in both eyes. Case 2 was the 80-year-old younger sister of Case 1. She first noticed a decline in vision and photophobia in both eyes in her early seventies. Her decimal visual acuity was 0.4 in the right eye and 0.2 in the left eye. Ophthalmoscopy showed mottling of the retinal pigment epithelium in the midperiphery with no visible macular degeneration. The photopic single flash and flicker ERGs were severely attenuated, and the scotopic ERGs were slightly reduced in both eyes.
  
  
  CONCLUSIONS
  These siblings are the oldest reported cases of CRD with no visible macular degeneration. Thus, CRD should be considered in patients with reduced visual acuity, color blindness, and photophobia even if they are older than 70 years.
authors.affiliation: Department of Ophthalmology, Kinki University Faculty of Medicine, Osaka-Sayama City, Osaka, Japan.
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Sakuramoto
authors.forename: Kazuki
authors.initials: K
authors.lastname: Kuniyoshi
authors.forename: Kazushige
authors.initials: K
authors.lastname: Tsunoda
authors.forename: Masakazu
authors.initials: M
authors.lastname: Akahori
authors.forename: Takeshi
authors.initials: T
authors.lastname: Iwata
authors.forename: Yoshikazu
authors.initials: Y
authors.lastname: Shimomura
keywords: cone-rod dystrophy; late onset; macular degeneration; negative ERG; occult macular dystrophy; peripheral cone dystrophy
references.citation: Invest Ophthalmol Vis Sci. 2008 Feb;49(2):751-7
references.pmid: 18235024
references.citation: Invest Ophthalmol Vis Sci. 2000 Nov;41(12):3925-32
references.pmid: 11053295
references.citation: Arch Ophthalmol. 1983 May;101(5):718-24
references.pmid: 6601944
references.citation: Hum Mol Genet. 1998 Jul;7(7):1179-84
references.pmid: 9618177
references.citation: Br J Ophthalmol. 1991 Jun;75(6):332-6
references.pmid: 2043573
references.citation: Neuron. 1997 Dec;19(6):1329-36
references.pmid: 9427255
references.citation: Am J Ophthalmol. 1996 Nov;122(5):644-53
references.pmid: 8909203
references.citation: Arch Ophthalmol. 1963 Aug;70:214-31
references.pmid: 14060101
references.citation: Invest Ophthalmol Vis Sci. 2004 Jun;45(6):1975-82
references.pmid: 15161866
references.citation: Am J Hum Genet. 2006 Sep;79(3):574-9
references.pmid: 16909397
references.citation: Ophthalmologica. 1974;169(4):255-84
references.pmid: 4547582
references.citation: Retina. 2012 Jun;32(6):1135-47
references.pmid: 22466457
references.citation: Am J Ophthalmol. 1989 Sep 15;108(3):292-9
references.pmid: 2774037
references.citation: Hum Mol Genet. 1998 Mar;7(3):355-62
references.pmid: 9466990
references.citation: Br J Ophthalmol. 2008 Aug;92(8):1086-91
references.pmid: 18653602
references.citation: Am J Hum Genet. 2002 Apr;70(4):1049-53
references.pmid: 11857109
references.citation: Hum Mol Genet. 1998 Feb;7(2):273-7
references.pmid: 9425234
references.citation: Ophthalmic Genet. 2000 Jun;21(2):89-99
references.pmid: 10916183
references.citation: Arch Ophthalmol. 1996 Jan;114(1):72-8
references.pmid: 8540854
references.citation: Ophthalmology. 2004 Apr;111(4):732-9
references.pmid: 15051206
references.citation: Cell. 1997 Nov 14;91(4):543-53
references.pmid: 9390563
references.citation: Doc Ophthalmol. 2013 Jun;126(3):247-51
references.pmid: 23456543
references.citation: Ophthalmology. 1987 Nov;94(11):1401-9
references.pmid: 3684214
references.citation: Jpn J Ophthalmol. 1991;35(4):453-66
references.pmid: 1821435
references.citation: Invest Ophthalmol Vis Sci. 2008 Nov;49(11):5015-23
references.pmid: 18487367
references.citation: Arch Ophthalmol. 1968 Jul;80(1):77-83
references.pmid: 5660021
references.citation: Clin Exp Ophthalmol. 2008 Dec;36(9):897-9
references.pmid: 19278489
references.citation: Am J Hum Genet. 2010 Sep 10;87(3):424-9
references.pmid: 20826268
references.citation: Am J Hum Genet. 1998 Nov;63(5):1307-15
references.pmid: 9792858
references.citation: Retina. 2010 Jan;30(1):51-62
references.pmid: 19952985
references.citation: Invest Ophthalmol Vis Sci. 1998 Nov;39(12):2417-26
references.pmid: 9804150
references.citation: Nat Genet. 1998 Apr;18(4):311-2
references.pmid: 9537410
references.citation: Ophthalmologica. 1977;174(3):145-50
references.pmid: 854266
references.citation: Br J Ophthalmol. 1992 Jun;76(6):375-9
references.pmid: 1622952
references.citation: Am J Ophthalmol. 2008 Jun;145(6):1099-106
references.pmid: 18400204
references.citation: Acta Ophthalmol. 2011 Mar;89(2):116-23
references.pmid: 19845558
references.citation: Eye (Lond). 2007 Sep;21(9):1220-5
references.pmid: 17041576
references.citation: Ophthalmology. 2012 Apr;119(4):819-26
references.pmid: 22264887
references.citation: Am J Ophthalmol. 1956 Oct;42(4 Part 2):304-19
references.pmid: 13372680
references.citation: Ophthalmology. 1990 Dec;97(12):1632-7
references.pmid: 2087294
references.citation: Mol Vis. 2011 Apr 29;17:1103-9
references.pmid: 21552474
references.citation: Doc Ophthalmol. 1973 Apr 16;35(1):1-80
references.pmid: 4573331
references.citation: Am J Ophthalmol. 2004 Nov;138(5):876-7
references.pmid: 15531334
references.citation: J Med Genet. 2006 Aug;43(8):699-704
references.pmid: 16505158