High-resolution imaging analysis of foveal hypoplasia with a novel PAX6 mutation

被引：0
|
作者：
Gocho, Kiyoko [1 ]
Kubota, Daiki [1 ]
Kikuchi, Sachiko [1 ]
Igarashi, Tsutomu [2 ]
Takahashi, Hiroshi [2 ]
Kameya, Shuhei [1 ]
机构：
[1] Nippon Med Univ, Chiba Hokusoh Hosp, Ophthalmol, Chiba, Japan
[2] Nippon Med Sch, Ophthalmol, Tokyo, Japan
来源：
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE | 2018年 / 59卷 / 09期
关键词：
D O I：
暂无
中图分类号：
R77 [眼科学];
学科分类号：
100212 ;
摘要：
1519
引用
收藏
页数：3
相关论文
共 50 条
  • [1] PAX6 missense mutation in isolated foveal hypoplasia
    Azuma, N
    Nishina, S
    NATURE GENETICS, 1996, 13 (02) : 141 - 142
  • [2] Missense mutation in the PAX6 gene in a family with isolated foveal hypoplasia
    Azuma, N
    Nishina, S
    Yanagisawa, H
    Okuyama, T
    Yamada, M
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 1996, 37 (03) : 707 - 707
  • [3] Autosomal-dominant nystagmus, foveal hypoplasia and presenile cataract associated with a novel PAX6 mutation
    Thomas, Shery
    Thomas, Mervyn G.
    Andrews, Caroline
    Chan, Wai-Man
    Proudlock, Frank A.
    McLean, Rebecca J.
    Pradeep, Archana
    Engle, Elizabeth C.
    Gottlob, Irene
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2014, 22 (03) : 344 - 349
  • [4] Autosomal-dominant nystagmus, foveal hypoplasia and presenile cataract associated with a novel PAX6 mutation
    Shery Thomas
    Mervyn G Thomas
    Caroline Andrews
    Wai-Man Chan
    Frank A Proudlock
    Rebecca J McLean
    Archana Pradeep
    Elizabeth C Engle
    Irene Gottlob
    European Journal of Human Genetics, 2014, 22 : 344 - 349
  • [5] A family with congenital nystagmus, microcornea, keratitis and foveal hypoplasia associated with a missense mutation in the PAX6 gene mutation
    Sonoda, S
    Isashiki, Y
    Tabata, Y
    Kimura, K
    Kakiuchi, T
    Ohba, N
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 1999, 40 (04) : S468 - S468
  • [6] Functional Characteristics of Diverse PAX6 Mutations Associated with Isolated Foveal Hypoplasia
    Matsushita, Itsuka
    Izumi, Hiroto
    Ueno, Shinji
    Hayashi, Takaaki
    Fujinami, Kaoru
    Tsunoda, Kazushige
    Iwata, Takeshi
    Kiuchi, Yoshiaki
    Kondo, Hiroyuki
    GENES, 2023, 14 (07)
  • [7] Autosomal dominant foveal hypoplasia without visible macular abnormalities and PAX6 mutations
    Itsuka Matsushita
    Hirofumi Morita
    Hiroyuki Kondo
    Japanese Journal of Ophthalmology, 2020, 64 : 635 - 641
  • [8] High Resolution in-vivo Imaging in Patients with PAX6 Mutations
    Thomas, Mervyn George
    Sheth, Viral
    Chan, Wai-Man
    Andrews, Caroline
    Engle, Elizabeth C.
    Gottlob, Irene
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2014, 55 (13)
  • [9] Foveal Hypoplasia Grading in 95 Cases of Congenital Aniridia: Correlation to Phenotype and PAX6 Genotype
    Daruich, Alejandra
    Robert, Matthieu P.
    Leroy, Camille
    de Vergnes, Nathalie
    Beugnet, Caroline
    Malan, Valerie
    Valleix, Sophie
    Bremond-Gignac, Dominique
    AMERICAN JOURNAL OF OPHTHALMOLOGY, 2022, 237 : 122 - 129
  • [10] Novel PAX6 mutation reported in an aniridia patient
    Andrew Winegarner
    Yoshinori Oie
    Satoshi Kawasaki
    Nozomi Nishida
    Kohji Nishida
    Human Genome Variation, 4 (1)
12345