Literature DB >> 3264103

X-linked myopia in Danish family.

M Haim1, H C Fledelius.   

Abstract

X-linked infantile myopia is described in a family of 273 members of whom 87 were examined in the National Eye Clinic. The disease may represent a new ocular syndrome, constituted by myopia combined with astigmatism, impaired vision, hypoplasia of the optic nerve heads, and deuteranopia. Obligate carriers presented slight retinal changes. Linkage studies are in progress.

Entities:  

Mesh:

Year:  1988        PMID: 3264103     DOI: 10.1111/j.1755-3768.1988.tb04039.x

Source DB:  PubMed          Journal:  Acta Ophthalmol (Copenh)        ISSN: 0001-639X


  16 in total

1.  Novel locus for X linked recessive high myopia maps to Xq23-q25 but outside MYP1.

Authors:  Q Zhang; X Guo; X Xiao; X Jia; S Li; J F Hejtmancik
Journal:  J Med Genet       Date:  2006-05       Impact factor: 6.318

2.  Refinement of the X-linked nonsyndromic high-grade myopia locus MYP1 on Xq28 and exclusion of 13 known positional candidate genes by direct sequencing.

Authors:  Uppala Ratnamala; Robert Lyle; Rakesh Rawal; Raminder Singh; Satti Vishnupriya; Pamini Himabindu; Vittal Rao; Somesh Aggarwal; Prasuna Paluru; Lucia Bartoloni; Terri L Young; Ariane Paoloni-Giacobino; Michael A Morris; Swapan K Nath; Stylianos E Antonarakis; Uppala Radhakrishna
Journal:  Invest Ophthalmol Vis Sci       Date:  2011-08-29       Impact factor: 4.799

3.  CSNB1 in Chinese families associated with novel mutations in NYX.

Authors:  Xueshan Xiao; Xiaoyun Jia; Xiangming Guo; Shiqiang Li; Zhikuan Yang; Qingjiong Zhang
Journal:  J Hum Genet       Date:  2006-05-03       Impact factor: 3.172

4.  Blue Cone Monochromatism: A Case Report with Opsoclonus and Light Exposure.

Authors:  Carlos Llorente-La-Orden; Bárbara Burgos-Blasco; Blanca Domingo-Gordo; Elena Hernández-García; Rosario Gómez-de-Liaño
Journal:  J Pediatr Genet       Date:  2020-08-31

5.  Variations in opsin coding sequences cause x-linked cone dysfunction syndrome with myopia and dichromacy.

Authors:  Michelle McClements; Wayne I L Davies; Michel Michaelides; Terri Young; Maureen Neitz; Robert E MacLaren; Anthony T Moore; David M Hunt
Journal:  Invest Ophthalmol Vis Sci       Date:  2013-02-15       Impact factor: 4.799

Review 6.  The cone dysfunction syndromes.

Authors:  M Michaelides; D M Hunt; A T Moore
Journal:  Br J Ophthalmol       Date:  2004-02       Impact factor: 4.638

7.  X-linked cone dystrophy and colour vision deficiency arising from a missense mutation in a hybrid L/M cone opsin gene.

Authors:  Michelle McClements; Wayne I L Davies; Michel Michaelides; Joseph Carroll; Jungtae Rha; John D Mollon; Maureen Neitz; Robert E MacLaren; Anthony T Moore; David M Hunt
Journal:  Vision Res       Date:  2013-01-18       Impact factor: 1.886

8.  Evaluation of the X-linked high-grade myopia locus (MYP1) with cone dysfunction and color vision deficiencies.

Authors:  Ravikanth Metlapally; Michel Michaelides; Anuradha Bulusu; Yi-Ju Li; Marianne Schwartz; Thomas Rosenberg; David M Hunt; Anthony T Moore; Stephan Züchner; Catherine Bowes Rickman; Terri L Young
Journal:  Invest Ophthalmol Vis Sci       Date:  2008-12-20       Impact factor: 4.799

9.  A new genetic locus for X linked progressive cone-rod dystrophy.

Authors:  R Jalkanen; F Y Demirci; H Tyynismaa; T Bech-Hansen; A Meindl; M Peippo; M Mäntyjärvi; M B Gorin; T Alitalo
Journal:  J Med Genet       Date:  2003-06       Impact factor: 6.318

10.  Evaluation of MMP2 as a candidate gene for high myopia.

Authors:  Bo Gong; Xiaoqi Liu; Dingding Zhang; Pu Wang; Lulin Huang; Ying Lin; Fang Lu; Shi Ma; Jing Cheng; Rong Chen; Xiaobo Li; He Lin; Guangqun Zeng; Xiong Zhu; Jianbin Hu; Zhenglin Yang; Yi Shi
Journal:  Mol Vis       Date:  2013-01-28       Impact factor: 2.367

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