先天性無虹彩症
WordNet
- present at birth but not necessarily hereditary; acquired during fetal development (同)inborn, innate
PrepTutorEJDIC
- (病気・身体的欠陥など)生まれつきの,先天的な
UpToDate Contents
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English Journal
- Simultaneous correction of post-traumatic aphakia and aniridia with the use of artificial iris and IOL implantation.
- Forlini C, Forlini M, Cavallini GM.SourceDepartment of Ophthalmology, Santa Maria delle Croci Hospital, Viale V. Randi 5 n. 43, 48121, Ravenna, Italy, forlinic@forlinic.it.
- Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv für klinische und experimentelle Ophthalmologie.Graefes Arch Clin Exp Ophthalmol.2013 Oct;251(10):2493-4. doi: 10.1007/s00417-013-2402-8. Epub 2013 Jun 23.
- PMID 23793912
- Analysis of protein composition and protein expression in the tear fluid of patients with congenital aniridia.
- Ihnatko R, Edén U, Lagali N, Dellby A, Fagerholm P.SourceIntegrative Regenerative Medicine Centre and Department of Clinical and Experimental Medicine, Faculty of Health Sciences, Linköping University, 581 85 Linköping, Sweden. Electronic address: robert.ihnatko@liu.se.
- Journal of proteomics.J Proteomics.2013 Sep 21. pii: S1874-3919(13)00469-7. doi: 10.1016/j.jprot.2013.09.003. [Epub ahead of print]
- Aniridia is a rare congenital genetic disorder caused by haploinsuffiency of the PAX6 gene, the master gene for development of the eye. The expression of tear proteins in aniridia is unknown. To screen for proteins involved in the aniridia pathophysiology, the tear fluid of patients with diagnosed c
- PMID 24061003
- Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutation.
- Perez Y, Gradstein L, Flusser H, Markus B, Cohen I, Langer Y, Marcus M, Lifshitz T, Kadir R, Birk OS.SourceThe Morris Kahn Laboratory of Human Genetics at the National Institute of Biotechnology in the Negev, Ben-Gurion University, Beer-Sheva, Israel.
- European journal of human genetics : EJHG.Eur J Hum Genet.2013 Sep 18. doi: 10.1038/ejhg.2013.212. [Epub ahead of print]
- Foveal hypoplasia, always accompanied by nystagmus, is found as part of the clinical spectrum of various eye disorders such as aniridia, albinism and achromatopsia. However, the molecular basis of isolated autosomal recessive foveal hypoplasia is yet unknown. Individuals of apparently unrelated non
- PMID 24045842
Japanese Journal
- 先天無虹彩の1症例におけるFunctional Vision Score評価 (第69回 日本臨床眼科学会講演集(1))
- Retinal Detachment with Giant Oral Dialysis in an Eye with Congenital Aniridia
Related Links
- Congenital aniridia syndrome, also known as Aniridia, is a rare disorder described in the database for rare diseases of the Swedish National Board of Health and Welfare. ... Date of publication: 2014-10-09 Version: 2.0 ICD 10 code
- Aniridia is characterized by complete or partial iris hypoplasia usually (but not always) with associated foveal hypoplasia resulting in reduced visual acuity and nystagmus presenting in early infancy. Frequently associated ocular ...
Related Pictures
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- 英
- congenital aniridia
- 同
- 先天性無虹彩、先天無虹彩症、先天無虹彩症
- 関
- 虹彩、ウィルムス腫瘍
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- 関
- congenital、congenitally
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