ocular albinism

出典: meddic

眼白子症 OA

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2014/07/29 11:21:25」(JST)

wiki en

[Wiki en表示]

UpToDate Contents

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.

英文文献

  • Infantile and acquired nystagmus in childhood.
  • Ehrt O.SourceDepartment of Ophthalmology, Ludwig-Maximilian University, Mathildenstr. 8, D-80336 Muenchen, Germany. Electronic address: oliver.ehrt@med.uni-muenchen.de.
  • European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.Eur J Paediatr Neurol.2012 Nov;16(6):567-72. doi: 10.1016/j.ejpn.2012.02.010. Epub 2012 Mar 28.
  • Nystagmus is an involuntary, periodic eye movement caused by a slow drift of fixation which is followed by a fast refixation saccade (jerk nystagmus) or a slow movement back to fixation (pendular nystagmus). In childhood most cases are benign forms of nystagmus: idiopathic infantile, ocular or laten
  • PMID 22459007
  • Molecular basis of albinism in India: Evaluation of seven potential candidate genes and some new findings.
  • Mondal M, Sengupta M, Samanta S, Sil A, Ray K.SourceMolecular & Human Genetics Division, CSIR-Indian Institute of Chemical Biology, Kolkata-700032, India. Electronic address: maitreyee.bonny@gmail.com.
  • Gene.Gene.2012 Sep 23. pii: S0378-1119(12)01093-1. doi: 10.1016/j.gene.2012.09.012. [Epub ahead of print]
  • Albinism represents a group of genetic disorders with a broad spectrum of hypopigmentary phenotypes dependent on the genetic background of the patients. Oculocutaneous albinism (OCA) patients have little or no pigment in their eyes, skin and hair, whereas ocular albinism (OA) primarily presents the
  • PMID 23010199

和文文献

  • 一般口演「先天異常」 眼白子症が疑われた姉妹例 (第36回 日本小児眼科学会)
  • 野村 隆仁,佐藤 美保,細野 克博 [他]
  • 眼科臨床紀要 5(4), 367-372, 2012
  • NAID 40019293767
  • Case of a Japanese Patient with X-linked Ocular Albinism Associated with the GPR143 Gene Mutation
  • OHTSUBO Masafumi,SATO Miho,HIKOYA Akiko,HOSONO Katsuhiro,MINOSHIMA Shinsei,HOTTA Yoshihiro
  • Japanese journal of ophthalmology 54(6), 624-626, 2010-11-01
  • NAID 10027666565

関連リンク

^Ocular albinism - Genetics Home Reference". ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0. ^ Hutton SM, Spritz RA (March ...
ocular 1. pertaining to the eye. 2. eyepiece (of a microscope). ocular albinism hypopigmentation of the iris. ocular carcinoma see carcinoma of skin. extrinsic ocular muscles see extraocular muscles. See also Table 13.1F. ocular ...

関連画像


押しても画像が表示されない場合はサーバが混雑しています。2週間ほどあけて、再度押下してください。


★リンクテーブル★
リンク元X連鎖劣性遺伝病」「眼白子症」「OA
関連記事ocular」「albinism

X連鎖劣性遺伝病」

  [★]

X-linked recessive disorder
伴性劣性遺伝病X連鎖遺伝病

X-linked recessive disorders (first aid step p.109)

Female carriers of X-linked recessive disorders are rarely affected because of random inactivation of X chromosomes in each cell.


眼白子症」

  [★]

ocular albinism, OA
albinismus ocularis
眼白皮症

概念

  • 眼の色素低下を伴う遺伝性疾患で、メラニン色素の合成異常が原因。

遺伝

症状

  • 虹彩低色素、脈絡膜血管の透見化、眼振、斜視、視交叉線維異常、黄斑低形成。



OA」

  [★]


ocular」

  [★]

  • adj.
bulbareyeballeyepieceglobeopticvisionvisual

WordNet   license wordnet

「visible; "be sure of it; give me the ocular proof"- Shakespeare; "a visual presentation"; "a visual image"」
visual

PrepTutorEJDIC   license prepejdic

「《文》目の / 《まれ》視覚の,目で見た / (顕微鏡・望遠鏡などの)接眼レンズ,接眼鏡」

WordNet   license wordnet

「of or relating to or resembling the eye; "ocular muscles"; "an ocular organ"; "ocular diseases"; "the optic (or optical) axis of the eye"; "an ocular spot is a pigmented organ or part believed to be sensitive to light"」
optic, optical, opthalmic

WordNet   license wordnet

「relating to or using sight; "ocular inspection"; "an optical illusion"; "visual powers"; "visual navigation"」
optic, optical, visual


albinism」

  [★] 白皮症

WordNet   license wordnet

「the congenital absence of pigmentation in the eyes and skin and hair」




★コメント★

[メモ入力エリア]
※コメント5000文字まで
ニックネーム:
コメント:




表示
個人用ツール


  meddic.jp

リンク
連絡