Novel biallelic TRPM1 variants in an elderly patient with complete congenital stationary night blindness

被引：0
|
作者：
Takaaki Hayashi
Kei Mizobuchi
Shinsuke Kikuchi
Tadashi Nakano
机构：
[1] The Jikei University School of Medicine,Department of Ophthalmology
[2] Katsushika Medical Center,Department of Ophthalmology
[3] The Jikei University School of Medicine,undefined
[4] Kikuchi Eye Clinic,undefined
来源：
Documenta Ophthalmologica | 2021年 / 142卷
关键词：
Autosomal recessive inheritance; gene; Retina; Congenital stationary night blindness; Full-field electroretinography;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
页码：265 / 273
页数：8
相关论文
共 50 条
  • [21] Mutation screening of TRPM1, GRM6, NYX and CACNA1F genes in patients with congenital stationary night blindness
    Wang, Qin
    Gao, Yang
    Li, Shiqiang
    Guo, Xiangming
    Zhang, Qingjiong
    INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE, 2012, 30 (03) : 521 - 526
  • [22] Clinical and genetic findings in TRPM1-related congenital stationary night blindness
    Iosifidis, Christos
    Liu, Jingshu
    Gale, Theodora
    Ellingford, Jamie M.
    Campbell, Christopher
    Ingram, Stuart
    Chandler, Kate
    Parry, Neil R. A.
    Black, Graeme C.
    Sergouniotis, Panagiotis, I
    ACTA OPHTHALMOLOGICA, 2022, 100 (06) : E1332 - E1339
  • [23] Fine-mapping and mutation analysis of TRPM1: a candidate gene for leopard complex (LP) spotting and congenital stationary night blindness in horses
    Bellone, Rebecca R.
    Forsyth, George
    Leeb, Tosso
    Archer, Sheila
    Sigurdsson, Snaevar
    Imsland, Freyja
    Mauceli, Evan
    Engensteiner, Martina
    Bailey, Ernest
    Sandmeyer, Lynne
    Grahn, Bruce
    Lindblad-Toh, Kerstin
    Wade, Claire M.
    BRIEFINGS IN FUNCTIONAL GENOMICS, 2010, 9 (03) : 193 - 207
  • [24] Complete congenital stationary night blindness as a tool to study myopia
    Baptiste, Wilmet
    Roger, Jerome
    Michiels, Christelle
    Callebert, Jacques
    Duvoisin, Robert
    Varin, Juliette
    Sanchez-Farias, Nuria
    Schaeffel, Frank
    Sahel, Jose-Alain
    Audo, Isabelle
    Zeitz, Christina
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2023, 64 (08)
  • [25] Electroretinographic Findings in a Patient with Congenital Stationary Night Blindness Due to a Novel NYX Mutation
    McAnany, J. Jason
    Alexander, Kenneth R.
    Kumar, Nalin M.
    Ying, Hongyu
    Anastasakis, Anastasios
    Fishman, Gerald A.
    OPHTHALMIC GENETICS, 2013, 34 (03) : 167 - 173
  • [26] PARADOXIC PUPILLARY CONSTRICTION IN A PATIENT WITH CONGENITAL STATIONARY NIGHT BLINDNESS
    MYERS, GA
    BARRICKS, ME
    STARK, L
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 1985, 26 (05) : 736 - 740
  • [27] Novel NYX mutations and clinical phenotype in Japanese patients with complete congenital stationary night blindness
    Nakamura, M
    Lin, K
    Ito, S
    Terasaki, H
    Miyake, Y
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2003, 44 : U399 - U399
  • [28] Novel frameshift mutation in NYX gene in a Russian family with complete congenital stationary night blindness
    Ivanova, Marianna E.
    Zolnikova, Inna V.
    Gorgisheli, Ketevan V.
    Atarshchikov, Dmitry S.
    Ghosh, Preetam
    Barh, Debmalya
    OPHTHALMIC GENETICS, 2019, 40 (06) : 558 - 563
  • [29] Multifocal ERG findings in complete type congenital stationary night blindness
    Kondo, M
    Miyake, Y
    Kondo, N
    Tanikawa, A
    Suzuki, S
    Horiguchi, M
    Terasaki, H
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2001, 42 (06) : 1342 - 1348
  • [30] Shedding light on myopia by studying complete congenital stationary night blindness
    Zeitz, Christina
    Roger, Jerome E.
    Michiels, Christelle
    Sanchez-Farias, Nuria
    Varin, Juliette
    Frederiksen, Helen
    Wilmet, Baptiste
    Gimenez, Marie-Laure
    Bouzidi, Nassima
    ACTA OPHTHALMOLOGICA, 2022, 100
12345