title: Efficacy of Column Scatter Plots for Presenting Retinitis Pigmentosa Phenotypes in a Japanese Cohort.
abstract: OBJECTIVE
  We evaluated the efficacy of column scatter plots to describe genotype-phenotype correlations in a Japanese cohort with retinitis pigmentosa (RP).
  
  
  METHODS
  Clinical records of 121 patients with RP with identified causative mutations were reviewed. Visual acuity, central and peripheral visual fields, electroretinography (ERG), lens status, and measurements of optical coherence tomography were evaluated according to causative genes using column scatter plots. Values for three common genes (EYS,USH2A, andRHO) were compared statistically.
  
  
  RESULTS
  All patients withPDE6B,PRPH2, andRPGRmutations, those 55 years old or younger withRP1L1andUSH2Amutations, and those 45 years old or younger withEYSandRHOmutations retained visual acuity of at least 0.1. All patients withRPGRmutations showed at least -20 dB mean deviation. Goldmann perimeter measures of 4/6 patients withRHOmutations showed remaining peripheral visual fields. Dark-adapted 0.01 and 3.0 ERGs were extinguished for most genes. Half of the patients withRHORP maintained cone responses in light-adapted 3.0 and 3.0 flicker ERG. All patients withPRPH2, those 55 years old or younger withUSH2AandRP1L1, and those 45 years old or younger withPDE6BandEYSmutations maintained subfoveal ellipsoid zones. No differences were identified betweenEYSandUSH2AorRHOandUSH2A.
  
  
  CONCLUSIONS
  Column scatter plots enabled comparisons of the associated severities and illustration of the ophthalmological measurements for every RP causative gene.
  
  
  CONCLUSIONS
  Analysis of mutations in specific genes may be helpful for determining visual prognoses in the clinical setting.
authors.affiliation: Department of Ophthalmology and Visual Sciences Kyoto University Graduate School of Medicine, Kyoto, Japan.
authors.forename: Ken
authors.initials: K
authors.lastname: Ogino
authors.affiliation: Department of Ophthalmology and Visual Sciences Kyoto University Graduate School of Medicine, Kyoto, Japan.
authors.forename: Akio
authors.initials: A
authors.lastname: Oishi
authors.affiliation: Department of Ophthalmology and Visual Sciences Kyoto University Graduate School of Medicine, Kyoto, Japan.
authors.forename: Maho
authors.initials: M
authors.lastname: Oishi
authors.affiliation: Department of Ophthalmology and Visual Sciences Kyoto University Graduate School of Medicine, Kyoto, Japan.
authors.forename: Norimoto
authors.initials: N
authors.lastname: Gotoh
authors.affiliation: Department of Ophthalmology and Visual Sciences Kyoto University Graduate School of Medicine, Kyoto, Japan.
authors.forename: Satoshi
authors.initials: S
authors.lastname: Morooka
authors.affiliation: Department of Ophthalmology and Visual Sciences Kyoto University Graduate School of Medicine, Kyoto, Japan.
authors.forename: Masako
authors.initials: M
authors.lastname: Sugahara
authors.affiliation: Department of Ophthalmology and Visual Sciences Kyoto University Graduate School of Medicine, Kyoto, Japan.
authors.forename: Tomoko
authors.initials: T
authors.lastname: Hasegawa
authors.affiliation: Department of Ophthalmology and Visual Sciences Kyoto University Graduate School of Medicine, Kyoto, Japan.
authors.forename: Manabu
authors.initials: M
authors.lastname: Miyata
authors.affiliation: Department of Ophthalmology and Visual Sciences Kyoto University Graduate School of Medicine, Kyoto, Japan.
authors.forename: Nagahisa
authors.initials: N
authors.lastname: Yoshimura
keywords: Japan; column scatter plot; genotype-phenotype; retinitis pigmentosa