Myopia-26, the female-limited form of early-onset high myopia, occurring in a European family

被引：0
|
作者：
Noémi Széll
Tamás Fehér
Zoltán Maróti
Tibor Kalmár
Dóra Latinovics
István Nagy
Zsuzsanna Z. Orosz
Márta Janáky
Andrea Facskó
Zoltán Sohajda
机构：
[1] Debrecen Medical University,Kenézy Gyula University Hospital
[2] University of Szeged,Doctoral School of Clinical Medicine
[3] Biological Research Centre,Institute of Biochemistry
[4] University of Szeged,Genetic Diagnostic Laboratory
[5] Seqomics Biotechnology Ltd,Department of Ophthalmology, Faculty of Medicine
[6] University of Szeged,undefined
来源：
Orphanet Journal of Rare Diseases | / 16卷
关键词：
Early onset high myopia; X-linked female-limited high myopia; Intrinsically photosensitive retinal ganglion cell; Monogenic disorder; Mendelian inheritance; X-arrestin; ARR3; G-protein coupled receptor;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
相关论文
共 42 条
  • [1] Myopia-26, the female-limited form of early-onset high myopia, occurring in a European family
    Szell, Noemi
    Feher, Tamas
    Maroti, Zoltan
    Kalmar, Tibor
    Latinovics, Dora
    Nagy, Istvan
    Orosz, Zsuzsanna Z.
    Janaky, Marta
    Facsko, Andrea
    Sohajda, Zoltan
    [J]. ORPHANET JOURNAL OF RARE DISEASES, 2021, 16 (01)
  • [2] Pupillary Light Reflex Reveals Melanopsin System Alteration in the Background of Myopia-26, the Female Limited Form of Early-Onset High Myopia
    Barboni, Mirella T. S.
    Szell, Noemi
    Sohajda, Zoltan
    Feher, Tamas
    [J]. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2024, 65 (08)
  • [3] Novel Splicing Variants in the ARR3 Gene Cause the Female-Limited Early-Onset High Myopia
    Niu, Jianing
    Zhu, Weili
    Jin, Xiaoying
    Teng, Xiaoming
    Zhang, Junyu
    [J]. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2024, 65 (03)
  • [4] X-linked heterozygous mutations in ARR3 cause female-limited early onset high myopia
    Xiao, Xueshan
    Li, Shiqiang
    Jia, Xiaoyun
    Guo, Xiangming
    Zhang, Qingjiong
    [J]. MOLECULAR VISION, 2016, 22 : 1257 - 1266
  • [5] Identification of a Novel Frameshift Variant of ARR3 Related to X-Linked Female-Limited Early-Onset High Myopia and Study on the Effect of X Chromosome Inactivation on the Myopia Severity
    Xiao, Xuan
    Yang, Jingmin
    Li, Ying
    Yang, Hongxia
    Zhu, Yijian
    Li, Lianbing
    Zhou, Qinlinglan
    Lu, Daru
    Chen, Ting
    Tian, Yafei
    [J]. JOURNAL OF CLINICAL MEDICINE, 2023, 12 (03)
  • [6] Pattern of choroidal thickness in early-onset high myopia
    Jiang, Zhaoxin
    Hou, Aohan
    Zhang, Ting
    Lai, Yanting
    Huang, Li
    Ding, Xiaoyan
    [J]. FRONTIERS IN MEDICINE, 2023, 10
  • [7] Link between parental myopia and early-onset high myopia: Insights from a clinical retrospective analysis
    Chamarty, Sruthi
    Kamalon, Sreena
    Madishetti, Naveen
    Verkicharla, Pavan K.
    [J]. OPHTHALMIC AND PHYSIOLOGICAL OPTICS, 2024, 44 (06) : 1270 - 1278
  • [8] Cone-Rod Dysfunction Is a Sign of Early-Onset High Myopia
    Wang, Panfeng
    Xiao, Xueshan
    Huang, Li
    Guo, Xiangming
    Zhang, Qingjiong
    [J]. OPTOMETRY AND VISION SCIENCE, 2013, 90 (11) : 1327 - 1330
  • [9] Risk factors for early-onset high myopia after treatment for retinopathy of prematurity
    Matsumura, Saiko
    Matsumoto, Tadashi
    Katayama, Yuji
    Tomita, Masahiko
    Morikawa, Hazuki
    Itokawa, Takashi
    Kawakami, Momoko
    Hori, Yuichi
    [J]. JAPANESE JOURNAL OF OPHTHALMOLOGY, 2022, 66 (04) : 386 - 393
  • [10] Risk factors for early-onset high myopia after treatment for retinopathy of prematurity
    Saiko Matsumura
    Tadashi Matsumoto
    Yuji Katayama
    Masahiko Tomita
    Hazuki Morikawa
    Takashi Itokawa
    Momoko Kawakami
    Yuichi Hori
    [J]. Japanese Journal of Ophthalmology, 2022, 66 : 386 - 393
12345