Long-term follow-up of two patients with oligocone trichromacy

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• 作者：Vasily Smirnov ; Isabelle Drumare ; Ikram Bouacha ; Bernard Puech…
• 关键词：Oligocone trichromacy ; Achromatopsia ; Bradyopsia ; Electroretinography ; ERG ; OCT
• 刊名：Documenta Ophthalmologica
• 出版年：2015
• 出版时间：October 2015
• 年：2015
• 卷：131
• 期：2
• 页码：149-158
• 全文大小：3,849 KB
• 参考文献：1.Van Lith GHM (1973) General cone dysfunction without achromatopsia. In: Pearlman JT (eds.) 10th ISCERG Symposium. Doc Ophthalmol Proc Ser, vol 2, pp 175鈥?80
  2.Marmor MF, Zrenner E (1995) Standard for clinical electroretinography (1994 update). Doc Ophthalmol 89:199鈥?10CrossRef PubMed
  3.Marmor MF, Fulton AB, Holder GE, Miyake Y, Brigell M, Bach M (2009) International society for clinical electrophysiology of vision. ISCEV standard for full-field clinical electroretinography (2008 update). Doc Ophthalmol 118(1):69鈥?7CrossRef PubMed
  4.Kinnear PR, Sahraie A (2002) New Farnsworth-Munsell 100 hue test norms of normal observers for each year of age 5鈥?2 and for decades 30鈥?0. Br J Ophthalmol 86:1408鈥?411PubMed Central CrossRef PubMed
  5.Andersen MKG et al (2010) Oligocone trichromacy: clinical and molecular genetic investigations. Invest Ophthalmol Vis Sci 51(1):89鈥?5CrossRef PubMed
  6.Thomas MG, Kumar A, Kohl S, Proudlock FA, Gottlob I (2011) High-resolution in vivo imaging in achromatopsia. Ophthalmology 118:882鈥?87CrossRef PubMed
  7.Michaelides M et al (2004) The cone disfunctions syndromes. Br J Ophthalmol 88:291鈥?97PubMed Central CrossRef PubMed
  8.Michaelides M, Holder GE et al (2004) Oligocone trichromacy: a rare and unusual cone dysfunction syndrome. Br J Ophthalmol 88:497鈥?00PubMed Central CrossRef PubMed
  9.Robson JG, Saszik S, Ahmed J, Frishman LJ (2003) Rod and cone contributions to the a-wave of the electroretinogram of macaque. J Physiol 547:509鈥?30PubMed Central CrossRef PubMed
  10.Michaelides M, Holder GE, Moore AT (2013) Inherited retinal disorders. In: Hoyt CS, Taylor D (eds) Pediatric ophthalmology and strabismus, 4th edn. Elsevier Saunders, pp 449鈥?73
  11.Hartong DT, Pott JWR, Kooijman AC (2007) Six patients with bradyopsia (slow vision). Ophthalmology 114(12):2323鈥?332CrossRef PubMed
  12.Michaelides M, Li Z, Rana NA, Richardson EC, Hykin PG, Moore AT, Holder GE, Webster AR (2010) RGS9- and R9AP-associated retinopathy. Ophthalmology 117(1):120鈥?27CrossRef PubMed
  13.Chehg JYC, Luu CD, Yong VHK et al (2007) Bradyopsia in asian man. Arch Ophthalmol 125(8):1138鈥?140CrossRef
  14.Vincent A, Robson AG, Holder GE (2013) Pathognomonic (diagnostic) ERG: a review and update. Retina 33(1):5鈥?2CrossRef PubMed
  15.Michaelides M, Li Z, Rana NA et al (2010) Novel mutations and electrophysiologic findings in RGS9- and R9AP-associated retinal dysfunction (Bradyopsia). Ophthalmology 117:120鈥?27CrossRef PubMed
  16.Nishiguchi K, Sandberg M, Kooijman A et al (2004) Defects in RGS9 or its anchor protein R9AP in patients with slow photoreceptor deactivation. Nature 427:75鈥?8CrossRef PubMed
  17.Michaelides M et al (2011) Integrity of the cone photoreceptor mosaic in oligocone trichromacy. Invest Ophthalmol Vis Sci 52(7):4757鈥?763PubMed Central CrossRef PubMed
  18.Audo I, Holder GE et al (2014) Inherited stationary disorders of the retina. In: Puech B, De Laey JJ, Holder GE (eds) Inherited chorioretinal dystrophies. Springer, Berlin, pp 77鈥?8
  
• 作者单位：Vasily Smirnov (1)
  Isabelle Drumare (1)
  Ikram Bouacha (1)
  Bernard Puech (1)
  Sabine Defoort-Dhellemmes (1)
  
  1. Exploration of Visual Function and Neuro-Ophthalmology Department, Lille University Hospital, Rue Emilie Laine, 59037, Lille Cedex, France
  
• 刊物类别：Medicine
• 刊物主题：Medicine & Public Health
  Ophthalmology
  
• 出版者：Springer Netherlands
• ISSN：1573-2622

文摘

Introduction Oligocone trichromacy (OT) is an uncommon cone dysfunction disorder, the mechanism of which remains poorly understood. OT has been thought to be non-progressive, but its long-term visual outcome has been seldom reported in the literature. Our aim was to present two OT patients followed at our institution over 18 years.