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Topic: Achromatopsia

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	Achromatopsia - Wikipedia, the free encyclopedia
		Achromatopsia is a medical condition (also called maskun or rod monochromatism) characterized by a low cone cell count or lack of function in cone cells; these are the light receptors responsible for color perception.
		The closest that normal-sighted persons can come to experiencing maskun-type vision is in the dark, when the rod cells become the predominant receptors for vision due to their sensitivity to variations in brightness.
		Achromatopsia can vary in its severity from being mild enough that it is not diagnosed to causing near blindness.
	en.wikipedia.org /wiki/Maskun (277 words)

	Achromatopsia and the underlying bioelectrochemistry
		Achromatopsia (with an s) is a stationary congenital syndrome that is easily recognized in the clinic.
		The principle interest, in the syndrome known as achromatopsia, is a failure in all of the signal paths shared by the chrominance channels, the luminance channel and the servomechanism associated with the analytical channel.
		Achromatopsia (with an s) is a complex medical condition, labeled a syndrome, consisting of a number of commonly observed underlying individual conditions.
	www.4colorvision.com /clinical/achromatopsia.htm (4982 words)

	"ACHROMATOPSIA" related terms, short phrases and links
		Achromatopsia is the abnormality or absence of retinal cones.
		Achromatopsia (total colour-blindness) is a rare genetic disease caused by mutations in the cone photoreceptor cyclic nucleotide-gated (CNG) channel.
		Achromatopsia or rod monochromacy is a stable and rare genetic disorder that results in legal blindness and no color vision.
	www.keywen.com /en/ACHROMATOPSIA (404 words)

	Encyclopedia - Achromatopsia
		Achromatopsia is a congenital eye defect that results in severe color blindness, poor detail vision, and photophobia, which is sensitivity to light.
		The sun blinds people with achromatopsia, known as achromats, when they are outside, and some people are so sensitive to light that they are even uncomfortable indoors in a normally lit room.
		Achromatopsia is hard to diagnose because the backs of the eyes appear normal when examined.
	www.visionrx.com /library/enc/enc_achromatopsia.asp (490 words)

	BioBeat Online Magazine
		Achromatopsia is inherited in an autosomal recessive fashion and is generally very rare, affecting an average of between 1 in 20,000 to 1 in 50,000 people around the world.
		), the incidence of achromatopsia is between 1 in 10 and 1 in 20.
		Recombination was observed for flanking markers, outside the homozygous markers, and this defined the outer boundaries of the disease gene locus as spanning a distance of 6.5 centimorgans.
	www.appliedbiosystems.com /biobeat/index.jsp?articleId=aa21bfd0-9927-0998-ce2650c1ddc1d3a0&type=0 (868 words)

	Rare Pediatric Disease Database
		Achromatopsia, meaning “without color,” is an inherited disorder present at birth that causes color blindness, visual problems, sensitivity to light, and nystagmus (involuntary, rapid movement of the eyes).
		Complete achromatopsia is generally inherited in an autosomal recessive manner while incomplete achromatopsia may be inherited in an autosomal recessive or X-linked recessive manner.
		Achromatopsia may initially be suspected in a child because of the eye movements and light sensitivity.
	www.madisonsfoundation.org /content/3/1/display.asp?did=493 (980 words)

	AAPOS
		Achromatopsia is caused by an abnormality of the retina, that portion of the eye responsible for “making the picture”.
		Achromatopsia is an inherited condition and so far three genes (genetic markers found on chromosomes) are known to be associated with this condition: CNGA3, CGNB3 and GNAT2.
		The achromatopsia gene is inherited from both the mother and father who carry the disease gene on one of two paired chromosomes.
	www.aapos.org /displaycommon.cfm?an=1&subarticlenbr=60 (543 words)

	Understanding Achromatopsia by Drs. Richard & Laura Windsor from Vision World Wide, Inc.
		Achromatopsia means "without color" and is defined as little or no function of the cone cells.
		Patients with incomplete achromatopsia have profound color impairment, but do have a small residual amount of color vision and slightly better visual acuity due to the presence of some functioning cone cells in the retina.
		Additionally, students with achromatopsia should be allowed to turn their head or eyes into their null position for better vision.
	www.visionww.org /drswindsor-achromatopsia.htm (2067 words)

	BioBeat Online Magazine
		Achromatopsia is an autosomal recessive disease in which affected individuals exhibit photophobia, poor visual acuity, nystagmus (a shaking motion of the eye), and a complete inability to discriminate between colors.
		Achromatopsia is generally very rare, but it is seen at a high frequency on Pingelap.
		However, the gene for a rod beta-subunit gene was known to map to the chromosome 16q3 region and certain genes mapping in the achromatopsia disease gene region on chromosome 8 were known to have homologues mapping to the 16q3 region, implying an ancestral genomic duplication event.
	www.appliedbiosystems.com /biobeat/index.jsp?articleId=86652204-c6c1-df0f-59b0b5e2c3ea3f95&type=0 (1591 words)

	WHAT IS ACHROMATOPSIA?
		Congenital achromatopsia is a rare hereditary vision disorder which affects 1 person in 33,000 in the U. The incidence varies in different parts of the world.
		Persons who have achromatopsia (sometimes called achromatopia) do not have normal "cone vision." In the retinas of normal eyes there are 6 million cone photoreceptors, located mostly at the center of the retina.
		Their loss of color perception is not accompanied by severely impaired vision, extreme light sensitivity, or abnormality in the photoreceptors of the retina, as is the case with persons who have congenital, inherited achromatopsia.
	www.achromat.org /what_is_achromatopsia.html (792 words)

	Achromatopsia and Color Blindness (Site not responding. Last check: 2007-10-08)
		atients with incomplete achromatopsia have profound color impairment, but do have a small residual amount of color vision and slightly better visual acuity due to the presence of some functioning cone cells in the retina.
		In the incomplete form of achromatopsia the visual acuity may range from 20/60 to 20/100.
		Individuals who have achromatopsia and families with children or teens who have achromatopsia are invited to become members.
	www.lowvision.org /achromatopsia_and_color_blindnes.htm (2140 words)

	Achromatopsia (Site not responding. Last check: 2007-10-08)
		Incomplete and Complete Achromatopsia Describes the differences between the conditions and its significance.
		The Achromatopsia Group Internet resource center, support group, and discussion forum for people affected by the rare vision disorder.
		The Achromatopsia Network A network for individuals and families affected by the vision disorder including rod monochromacy and blue cone monochromacy.
	www.serebella.com /encyclopedia/article-Achromatopsia.html (136 words)

	Varsanyi, Mol Vis 2005; 11:996-1001.
		Because of the rarity of achromatopsia and the nonspecific early symptoms (such as inability to fixation, nystagmus, photophobia) in childhood, it is often misdiagnosed as some other, relatively more common disorder, such as Leber congenital amaurosis, Stargardt macular dystrophy, optic nerve atrophy, early onset nystagmus of uncertain origin.
		Pseudodominant inheritance of achromatopsia could be established in family E. While the affected mother was homozygous for the Arg283Trp mutation, her affected children were compound heterozygous for the Arg283Trp and the Pro163Leu mutations, the latter inherited from the unaffected father (Figure 1).
		Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the alpha subunit of cone transducin (GNAT2).
	www.molvis.org /molvis/v11/a119 (3026 words)

	* Achromatopsia - (Disease): Definition
		Achromatopsia, the complete inability to distinguish color, is an autosomal recessive disease of the retina.
		This means that both parents have one copy of the altered gene but do not have the disease.
		The most severe form of colorblindness is achromatopsia, the inability to see any color.
	en.mimi.hu /disease/achromatopsia.html (73 words)

	Incomplete and Complete Achromatopsia (Site not responding. Last check: 2007-10-08)
		Five to eight percent of men are affected with this genetic condition, and due to a lacking pigment, have trouble distinguishing between red, green and brown.
		Blue color blindness, also known as incomplete achromatopsia or blue-cone monochromatism, is an X-linked recessive disorder in which only the blue cones and the rods are functioning properly.
		Nordby's brother and sister were also diagnosed with achromatopsia, and their childhood pictures show them playing outside at night, or in the cellar with the shades drawn.
	serendip.brynmawr.edu /bb/neuro/neuro98/202s98-paper2/DeCastro2.html (1731 words)

	Geometry.Net - Basic_A: Achromatopsia Genetics
		Achromatopsia (with an s) is a stationary congenital disease that is easily recognized in the clinic.
		The term "achromatopsia" means "without color vision." Persons affected by this vision disorder experience other kinds of vision problems in addition to their lack of color vision, and information about all of this is included in this book.
		achromatopsia is a form of colorblindness characterized by the total loss of allcolor vision.
	www.geometry.net /detail/basic_a/achromatopsia_genetics.html (2708 words)

	Achromatopsia
		Since only the smallest fraction of information dealing with achromatopsia is indexed in search engines, such as www.google.com or others, a non-systematic approach to Internet research can be not only time consuming, but also incomplete.
		This book was created for medical professionals, students, and members of the general public who want to conduct medical research using the most advanced tools available and spending the least amount of time doing so.
		In addition to offering a structured and comprehensive bibliography, this medical reference on achromatopsia will quickly direct you to resources and reliable information on the Internet, from the essentials to the most advanced areas of research.
	www.icongrouponline.com /health/Achromatopsia_Ph.html (395 words)

	Achromatopsia, Health, Conditions and Diseases, Eye Disorders and Color Blindness Bulletin @ LocalColorArt.com (Local ... (Site not responding. Last check: 2007-10-08)
		The Achromatopsia Group - Internet resource center, support group, and discussion forum for people affected by the rare vision disorder.
		The Achromatopsia Network - A network for individuals and families affected by the vision disorder including rod monochromacy and blue cone monochromacy.
		Understanding Achromatopsia - Vision specialists explain how this condition is inherited, the different types, and what treatment is available.
	www.bordermusic.com /Health/Conditions_and_Diseases/Eye_Disorders/Color_Blindness/Achromatopsia (212 words)

	Achromatopsia definition - Medical Dictionary definitions of popular medical terms
		Achromatopsia: An hereditary disorder of sight due to a lack of cone vision - that type of vision provided by the cone photoreceptors in the retina.
		Achromats (people with achromatopsia) are therefore completely colorblind or nearly so and have very poor visual acuity.
		Achromatopsia is the subject of a brilliant book "The Island of the Colorblind" by the neurologist/writer Oliver Sacks (Alfred Knopf/Vintage Press).
	www.medterms.com /script/main/art.asp?articlekey=11286 (609 words)

	Achromatopsia - UPCMedicalDirectory (Site not responding. Last check: 2007-10-08)
		Total color blindness, or complete achromatopsia, is an autosomal recessive disorder.
		A network for individuals and families affected by the vision disorder achromatopsia (sometimes called achromatopia), including rod monochromacy and...
		For Achromatopsia patients, our standard colors are light, medium, and dark red.
	www.upcmd.com /?First=Achromatopsia (108 words)

	Achromatopsia
		In a recent study, we analyzed a special form of achromatopsia found in two sisters.
		We studied their ability to discriminate colors with a simple test ("Farnsworth Panel D-15 test"): the sisters were asked to arrange colored panels to match the order of colors in a rainbow (Figure 3A).
		In the search for the genetic cause of this incomplete achromatopsia, we identified mutations in the alleles encoding CNGA3 in both sisters.
	www.fz-juelich.de /ibi/ibi-1/Achromatopsia (1217 words)

	VISION IN A COMPLETE ACHROMAT
		No documented case of achromatopsia is known to have existed in either branch of my family.
		Despite the suggestive symptoms, such necdotal evidence cannot be accepted to infer a bona fide case of achromatopsia, since no ophthalmological report is known (it is most improbable that any medical assessment of her eyes was ever performed), and her symptoms can be attributed to several other causes (e.g.
		One mother, in fact, believed that this habit of gazing into the sun had harmed her son's eyes and was the actual cause of his achromatopsia and low visual acuity.
	consc.net /misc/achromat.html (9767 words)

	Color Blindness-Achromatopsia (Site not responding. Last check: 2007-10-08)
		A network for individuals and families affected by the vision disorder achromatopsia (sometimes called achromatopia), including rod monochromacy and blue cone monochromacy.
		Briefly, it describes both the condition and the causes, presents tests for, as well as providing a tool to diagnose the deficiency.
		A wide range of helpful Achromatopsia information concerning treatment, prevention, diagnosis, email groups, support groups, personal stories and much more.
	www.medlina.com /color_blindness.htm (319 words)

	Journal of Vision - Patterns of cortical damage in achromatopsia and prosopagnosia, by Bouvier & Engel
		Many patients had symptoms of both disorders: only 12 had impaired color perception with spared face perception, and only 8 had impaired face perception with spared color perception while 28 had both (17 did not report data regarding one of the syndromes).
		For achromatopsia, a voxel-by-voxel analysis revealed a single region of maximum lesion overlap in the ventral occipital lobe near Talairach coordinates (22, -76, -3).
		Although rare, selective cases of achromatopsia and prosopagnosia provide evidence for a single region in cortex, that when lesioned, produces deficits in color vision.
	www.journalofvision.org /4/8/205 (348 words)

	Progressive Cone Dystrophy Associated with Mutation in CNGB3 -- Michaelides et al. 45 (6): 1975 -- Investigative ...
		In contrast, achromatopsia is a stationary cone dystrophy that
		Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia.
		A frameshift insertion in the cone cyclic nucleotide gated cation channel causes complete achromatopsia in a consanguineous family from a rural isolate.
	www.iovs.org /cgi/content/full/45/6/1975 (2875 words)

	Color vision deficiency - Genetics Home Reference
		People with achromatopsia almost always have additional problems with vision including reduced visual acuity, increased sensitivity to light (photophobia), and small involuntary eye movements called nystagmus.
		A particular form of incomplete achromatopsia, called blue cone monochromacy, occurs when genetic changes prevent both L and M cones from functioning normally.
		Complete achromatopsia is inherited in an autosomal recessive pattern, which means two copies of the CNGA3, CNGB3, or GNAT2 gene in each cell are altered.
	ghr.nlm.nih.gov /condition=colorvisiondeficiency (1389 words)

	Achromatopsia-Group : support group for achromatopsia
		This discussion forum is for individuals, families, friends of people affected by the rare vision disorder achromatopsia, also called rod monochromacy, which affects approximately 8,500 persons in the United States (about 1 in 33,000).
		Do not rely on any Internet discussion forum for important health care questions, as this is not a substitute for the careful advice and treatment from a professional health care provider or doctor.
		While discussions on any achromatopsia related issues are encouraged, all users of this forum should carefully consider the impact of their postings.
	www.yahoogroups.com /group/achromatopsia-group (237 words)

	Pingelapese achromatopsia: correlation between paradoxical pupillary response and clinical features -- Ben Simon et al. ...
		Achromatopsia in Pingelap islanders: study of a genetic isolate.
		Homozygosity mapping of the achromatopsia locus in the Pingelapese.
		Homozygosity mapping of achromatopsia to chromosome 2 using DNA pooling.
	bjo.bmjjournals.com /cgi/content/full/88/2/223 (1442 words)

	NORD - National Organization for Rare Disorders, Inc. (Site not responding. Last check: 2007-10-08)
		The Achromatopsia Network is a nonprofit organization for individuals and families affected by congenital, inherited achromatopsia, a very rare vision disorder.
		Most members of the network are affected by the form of achromatopsia; known as rod monochromacy.
		Publications available include three books: "Understanding and Coping with Achromatopsia," "Living with Achromatopsia," and "Handbook of Information for Members of the Achromatopsia Network." There are over 500 members in this network, most of who are in the United States.
	www.rarediseases.org /search/orgdetail_full.html?org_name=Achromatopsia%20Network (390 words)

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