«COLOBOMA»に関連する英語の本
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With almost twice as many chapters, this new edition of Pediatric Retina now includes important information on the development of the eye and retina, basic/translational science of retinal diseases in infants and children, telemedicine ...
2
Pediatric Ophthalmology and Strabismus
Microphthalmia associated with a typical iris coloboma. Strands of iris stroma can
be seen bridging the inferior aspect of the coloboma. Although iris colobomas
can be associated with almost any chromosomal abnormality, the most common
...
Kenneth Weston Wright, Peter H. Spiegel, 2003
3
Harley's Pediatric Ophthalmology
Coloboma may affect either the upper or lower eyelids and may vary in size from
a small eyelid marginal defect to a near complete absence of the eyelids.
Coloboma more typically occur in the nasal aspect of the upper eyelid, and large
eyelid ...
Robison D. Harley, Leonard B. Nelson, Scott E. Olitsky, 2005
9.8 Coloboma of iris and choroid. A, External and fundus pictures from right eye
of same patient show microcornea and iris coloboma (left) and choroidal
coloboma (right) with involvement of optic disc. B, Photomicrograph of another
case ...
Myron Yanoff, Joseph W. Sassani, 2009
5
Pediatric Ophthalmology: Current Thought and A Practical Guide
Optic nerve coloboma occurs as a consequence of incomplete closure of the
optic stalk in weeks 5–7 of embryogenesis. Optic nerve coloboma may occur
sporadically, or in association with multisystem abnormalities. In general, visual ...
Edward M. Wilson, Richard Saunders, Trivedi Rupal, 2008
6
The Bedside Dysmorphologist
Recognizing the Sign The term coloboma signifies a fissure in the iris. Since the
iris derives embryologically from the neural retina and the pigment epithelium of
the optic cup, the clinical significance of an iris coloboma is that it may be the ...
Crumlin William Reardon Consultant Clinical Geneticist Our Lady's Hospital for Sick Children, Dublin, 2007
7
Ocular Fundus: From Findings to Diagnosis
Choroidal Disorders Coloboma ø dominant inheritance ø white sector inferiorly ø
sclera visible through choroidal defect ø highly variable appearance Choroidal
atrophy in Myopia ø in severely myopic eyes ø round to oval defects with smooth
...
Sebastian Wolf, Bernd Kirchhof, 2011
8
Congenital Diseases and Syndromes: An Illustrated ...
Coloboma Coloboma is a rare congenital orbital anomaly characterized by
herniation of the retina through a choroidal defect, creating a cystic pouch within
the eye. Another definition for coloboma is absence of some ocular tissue,
usually due ...
Jarrah Ali Al-Tubaikh, Maximilian F Reiser, 2009
9
Focus on Birth Defects Research
Developmental eye defects such as coloboma are a significant cause of visual
morbidity in children, and are more common in developing coutries (Figures 14,
15). Coloboma implies the absence of a particular ocular tissue and results from
...
10
Syndromes of the Head and Neck
Coloboma, hearing loss, hematuria, and cleft lip-palate Collum (4) and Kingston
et al (8) described a three-generation family in which colobomata of iris and
choroid were segregating, sometimes accompanied by clefting and mental ...
M.S. D.Sc. Regents' Professor Emeritus of Oral Pathology and Genetics at School of Dentistry Robert J. Gorlin D.D.S, D.M.D. M. Michael Cohen Jr., Ph.D. Professor Oral Pathology Faculty of Denistry, Ph.D. Department of Pediatrics and Medical Genetics Raoul C.M. Hennekam M.D., Academic Medical Center University of Amsterdam, 2001
用語«COLOBOMA»を含むニュース項目
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Novel mutations in PAX6, OTX2 and NDP in anophthalmia …
(Val256Ala), was identified in two brothers with bilateral microphthalmia, coloboma, primary aphakia, iris hypoplasia, sclerocornea and ... «Nature.com, 7月 15»
Identification of the first large deletion in the CLDN16 gene in a …
In addition, patients with CLDN19 mutations usually present severe ocular abnormalities such as macular coloboma, nystagmus, retinopathy, ... «BMC Blogs Network, 7月 15»
Researchers pinpoint gene responsible for 'keyhole' eye defects
Inherited retinal dystrophy associated with ocular coloboma causes gaps to form in certain eye structures during their development, often ... «Optometry Today, 6月 15»
Public Release: 23-Jun-2015 Researchers identify gene mutation …
Coloboma is one of a number of developmental genetic disorders that collectively represent important causes of visual disability affecting one ... «EurekAlert, 6月 15»
Scientific collaboration pinpoints genetic cause of rare form of …
Coloboma is one of a number of developmental genetic disorders that collectively represent important causes of visual disability affecting one ... «News-Medical.net, 6月 15»
Vision work helps Parker to continue on in school
She also has coloboma in her left eye, which is a hole in the structure of her eye. Peters anomaly affects three to six individuals per 100,000. «The Hillsdale Daily News, 6月 15»
Family's bid to raise cash for little Jacob
He has Coloboma, which is a rare condition and means he has underdeveloped eyes. He also has a hole in his heart and extra fingers and ... «Morley Observer, 6月 15»
Scottish schools urged not to fail sight impaired
Both have bilateral microphthalmia (small eyes), coloboma (under-developed eyes) and nystagmus (involuntary movement of the eyes). «Scotsman, 6月 15»
A role for VAX2 in correct retinal function revealed by a novel …
Some of the Vax2-/- mice also display incomplete closure of the optic fissure and coloboma (with variable penetrance) and there is speculation ... «BMC Blogs Network, 6月 15»
This Week in PNAS
... inherited form of the eye development disorder retinal dystrophy that includes a type of structural malformation known as bilateral coloboma. «GenomeWeb, 6月 15»
