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Topic: Aniridia

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	Aniridia
		Aniridia is caused when the gene responsible for eye development that is Pax6 does not function correctly, this causes the eye to stop developing too early and when the baby is born most of the eye is underdeveloped to some degree (Aniridia Network).
		Aniridia is a disease in which the iris fails to form normally and therefore the person concerned might have malfunctioning visual functions The Pax6 gene encodes a transcription factor that is expressed in developing adults of all multi cellular organisms, be it drosophila, mouse or humans.
		Missense mutations in the PAX6 gene in Aniridia.
	www.biology.iupui.edu /biocourses/Biol540H/AniridiaSQ.html (1513 words)

	Aniridia, cerebellar ataxia, and mental deficiency (Site not responding. Last check: 2007-11-05)
		Aniridia is visible at birth and the iris abnormality is specific and pathognomonic for the syndrome.
		Aniridia is the clinical absence of the irides (although a circular stump of tissue is visible on gonioscopy) combined with severe amblyopia and nystagmus due to macular hypoplasia.
		Aniridia caused by deletions in 11p, or type 2 aniridia, is sporadic in 15% of cases and is usually unilateral.
	www.orpha.net /static/GB/aniridia.html (471 words)

	aniridia - Medical Dictionary
		Aniridia is a rare congenital eye anomaly characterized by the almost complete absence of the iris, often associated with cataracts, optic nerve hypoplasia, and glaucoma.
		Aniridia (AN) is a sight-threatening congenital ocular disorder characterized by iris hypoplasia, corneal pannus, foveal and optic nerve hypoplasia, cataract formation, and glaucoma.
		Aniridia is a congenital developmental anomaly of the eye that usually affects both eyes.
	www.dentalarticles.com /dictionary/aniridia.html (186 words)

	CIGNA - Aniridia (Site not responding. Last check: 2007-11-05)
		Aniridia is a rare genetic vision disorder characterized by abnormal development of the eye's iris.
		Aniridia is characterized by partial or complete absence of the iris.
		A third type of aniridia is associated with mental retardation, and a fourth type occurs in conjunction with Wilms' tumor, genitourinary abnormalities, and possible mental retardation.
	www.cigna.com /healthinfo/nord524.html (1311 words)

	Aniridia
		AN1 was used for the aniridia locus thought to be on chromosome 2 and AN2 for the locus on chromosome 11.
		In the Gillespie syndrome (206700), aniridia is associated with cerebellar ataxia and mental retardation...
		In Aniridia, although not entirely absent, all that remains of the iris is a thick collar of tissue around its outer edge and the muscles which open and close the pupil are entirely missing.
	ibis-birthdefects.org /start/aniridia.htm (1288 words)

	Minnesota Children with Special Health Needs (MCSHN)
		Aniridia is a congenial condition that caused the eye to be undeveloped.
		Aniridia is inherited as a dominant gene, and therefore each child born to a parent with the condition will have a 50% chance of having the gene.
		Aniridia is a part of two very rare genetic syndromes WAGR and Gillespie syndrome.
	www.health.state.mn.us /divs/fh/mcshn/bd/aniridia.htm (875 words)

	Aniridia
		Aniridia is a rare congenital eye condition leading to underdevelopment or even absence of the iris of the human eye.
		The iris functions to restrict the amount of light entering the eye, so if it is absent, most individuals with aniridia are sensitive to bright outdoor light and their eyes may need protecting.
		Children born with aniridia will need to be closely monitored to ensure that no additional problems develop.
	www.mrsci.com /Neurology/Aniridia.php (143 words)

	Aniridia
		Aniridia is a rare congenital eye condition causing incomplete formation of the iris.
		In Aniridia, although not entirely absent, all that remains of the iris, the coloured part of the eye, is a thick collar of tissue around its outer edge.
		Aniridia may be associated with other eye conditions such as nystagmus, glaucoma, corneal disease, cataract, lens sublaxation (dislocation), macula and optic nerve disease.
	www.rnib.org.uk /xpedio/groups/public/documents/PublicWebsite/public_rnib003636.hcsp (667 words)

	Aniridia and WAGR Syndrome - FISH Analysis
		Aniridia is a developmental defect of the eye that may occur sporadically or may be inherited in a family.
		In the majority of cases, aniridia is an isolated finding, however, it may rarely occur as part of the contiguous gene deletion syndrome, WAGR (Wilms tumor, aniridia, genitourinary anomalies and mental retardation).
		Patients with isolated aniridia and a negative FISH test may have a mutation in PAX 6 not detectable by this assay.
	www.bcm.edu /geneticlabs/tests/cyto/aniridiawagr.html (395 words)

	American Association for Pediatric Ophthalmology and Strabismus
		If a parent has Aniridia he or she may have a 50% chance of an affected offspring for each pregnancy; this is known as autosomal dominant transmission.
		Aniridia may occur for the first time in the family without affected parents (called the sporadic type of Aniridia) and this affected child has a 50% chance of having an affected offspring for each pregnancy.
		Aniridia has been described with other syndromes (a group of signs which occur consistently together): Miller syndrome where aniridia may be associated with a kidney tumor called a Wilm's tumor (or nephroblastoma) or WAGR syndrome which stands for Wilm's tumor, Aniridia, Genital abnormalities and Retardation (mental).
	www.aapos.org /displaycommon.cfm?an=1&subarticlenbr=67 (863 words)

	About Aniridia (Site not responding. Last check: 2007-11-05)
		Description: Aniridia is a genetic eye condition that literally means “without iris” (the color part of our eye).
		Aniridia is caused when the gene responsible for eye development – PAX6 gene – does not function correctly.
		This causes the eye to stop developing too early and when the baby is born most of the eye is underdeveloped to some degree.
	www.ffcvi.org /about_aniridia.htm (207 words)

	BioMed Central \| Full text \| PAX6 gene variations associated with aniridia in south India
		The purpose of this study was to analyze patients with aniridia to uncover PAX6 gene mutations in south Indian population.
		Aniridia is a human congenital eye malformation with a population frequency of 1 in 60,000–100,000 [1].
		Aniridia occurs due to decreased dosage of the PAX6 gene, which controls early events in the morphogenesis of the eye and brain [8,9].
	www.biomedcentral.com /1471-2350/5/9 (3271 words)

	Reaching Out Network - Aniridia Information Page
		The external appearance of the aniridic eye is of a large fl central pupil and in many cases a small color band.
		Aniridia is produced by a failure in the development of the ocular globe during pregnancy, due to a genetic mutation, a deletion in the short arm of chromosome 11 p13 affecting the PAX 6 gene, which is responsible for the formation of the eye.
		Missing iris will not cause blindness, however, depending on the underdevelopment of the macular, people with aniridia will have some degree of low vision, most young children with aniridia have between 20/80-20/200 vision.
	members.aol.com /Chromosome11del/index.htm (1039 words)

	Neethirajan, Mol Vis 2003; 9:205-209.
		Aniridia can occur by itself, in which case it shows an autosomal dominant inheritance, or as part of the WAGR syndrome (Wilm's tumor, aniridia, genitourinary abnormalities, and mental retardation) [1,2].
		The gene responsible for aniridia is PAX6, [3-5].
		Aniridia is caused by loss of function of one copy of the PAX6 gene, which may occur by deletion of the entire gene [2,3], or by intragenic mutation [4-6,11,12].
	www.molvis.org /molvis/v9/a30 (2542 words)

	CIGNA - Aniridia Cerebellar Ataxia Mental Deficiency (Site not responding. Last check: 2007-11-05)
		The inner edge of the iris that normally surrounds the pupil (pupillary margin of iris) may be absent, as may be the circular band of muscle fibers in the iris that reduces the size of the pupil (sphincter pupillae) in response to light.
		The disorder aniridia, cerebellar ataxia and mental deficiency is thought to be inherited as an autosomal recessive genetic trait, but researchers have not yet been able to establish the mode of inheritance conclusively.
		Aniridia, Type II may occur randomly, for no apparent reason (sporadic); cases where a familial pattern has been identified show that the disorder may be inherited as an autosomal dominant genetic trait.
	www.cigna.com /healthinfo/nord1045.html (2065 words)

	eMedicine - Aniridia in the Newborn : Article by Sophie Bakri, MD
		The morbidity of aniridia is significant because of the decreased vision and nystagmus.
		The association between aniridia and Wilms tumor is referred to as Miller syndrome, after his 1964 report of 6 cases of aniridia among 440 cases of Wilms tumor.
		Callahan A: Aniridia with ectopia lentis and secondary glaucoma.
	www.emedicine.com /oph/topic317.htm (2992 words)

	Aniridia in a patient with tuberous sclerosis -- MILEA and BURILLON 81 (9): 802 -- British Journal of Ophthalmology
		Aniridia in a patient with tuberous sclerosis -- MILEA and BURILLON 81 (9): 802 -- British Journal of Ophthalmology
		Aniridia is an autosomic dominant inherited disease, but sporadic non-familial forms exist.
		Churchill A, Booth A. Genetics of aniridia and anterior segment dysgenesis.
	bjo.bmjjournals.com /cgi/content/full/81/9/802c (641 words)

	ANIRIDIA: Contact a Family - for families with disabled children: information on rare syndromes and disorders
		Complications of aniridia such as cataracts, glaucoma, corneal changes (abnormal loss of transparency and blood vessel growth) and squint can occur later in life and may reduce the vision further, but are treatable by medication or surgery.
		Although many of those with aniridia will have a visual disability and are unlikely to develop enough vision to drive a car, most will have enough vision for a sighted education and cope well with the help of visual aids.
		Aniridia is caused by a defect in the PAX6 gene on chromosome 11 and is inherited in an autosomal dominant way.
	www.cafamily.org.uk /Direct/a56.html (767 words)

	MAIN PAGE OF ANIRIDIA
		Although the word “aniridia” literally means the “absence of the iris of the eye,”; it is an ocular disorder that involves various parts of the eye.
		Generally it is bilateral, that is, in both eyes, and incomplete, because in the majority of the cases an incipient iris exists but did not develop.
		The external appearance of the aniridic eye is of a large fl central pupil and in many cases a small colored band.
	www.aniridia.com /ingles/aniridia.htm (139 words)

	"Aniridia Foundation International" and low vision or blind
		Aniridia Foundation International is a 501(c)3 non-profit charitable organization dedicated to assisting those with low vision or blindness due to the genetic blinding eye disease Aniridia.
		Aniridia Foundation International members have united together because we must stop this genetic disease from passing from one generation to the next, and make a difference in the lives of those who presently live with it daily.
		Aniridia Foundation International is involved in self-help, while trying to promote research and education, among other goals contained in its mission statement.
	www.aniridia.net (488 words)

	Aniridia Foundation International Medical Conference
		Aniridia is a genetic blinding eye disease in which the person is born with low vision due to underdeveloped eye structures.
		Aniridia Foundation International plans to help those with aniridia and others who also share these associated conditions with future research and creating better treatments through the collection of DNA, clinical photographs, medical information and a collaboration between Aniridia Foundation International and the Hamilton Eye Institute (HEI) to create the HEI gene bank.
		We also are addressing the need for child care so that those who would not be able to attend without it, may still come and learn how to help their child with low vision or blindness educationally, medically, mentally, and in adapting to living with this eye disorder.
	www.aniridia.net /index.cfm/PageID/1532 (530 words)

	Birth Defects Link (Site not responding. Last check: 2007-11-05)
		Aniridia: is a congenital, hereditary, bilateral, extreme form of iris hypoplasia that may be associated with other ocular defects.
		It is web site for family members and friends interested in sharing information and/or providing support to people with aniridia; it aims at increasing awareness on aniridia and improving the quality of information about this genetic disorder.
		In particular, the site explains what aniridia is, what causes it, if there are risk factors for aniridia, what the effects of aniridia are, what the genetic implications of aniridia are and what treatments for aniridia do exist.
	www.icbd.org /link.htm (9097 words)

	Aniridia
		Aniridia is a rare genetic vision disorder characterized by partial or complete absence of the iris.
		Three forms of Aniridia have been identified to date.
		Some aniridic eyes are more developed than others and therefore it is difficult to say exactly how aniridia will progress in an individual.
	www.uic.edu /com/eye/PatientCare/EyeConditions/Aniridia.shtml (68 words)

	Reaching Out - The WAGR Network Home Page
		A combination of 2 or more of these symptoms must be present for an individual to be diagnosed with WAGR Syndrome.
		The only feature that has been present in all documented cases of WAGR Syndrome, with only one known exception, is aniridia.
		In many cases, the partial or complete absence of the iris of the eye (Aniridia) may be the only physical feature associated with WAGR Syndrome that is obvious at birth.
	members.aol.com /ReachingOutNet (449 words)

	Aniridia Network International - what is aniridia? (Site not responding. Last check: 2007-11-05)
		Aniridia is a genetic eye condition that is present at birth (congenital) and is almost always bilateral.
		Aniridia literally means "without iris." In most cases this is the most visible sign of the condition.
		However, aniridia is caused when the gene responiable for eye development - the PAX6 gene - does not function correctly.
	www.aniridia.org /conditions/index.html (236 words)

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