Genetic Disorders achromatopsia achromatopsia Home Page one-stop shopping for information on thisgenetic disorder What is achromatopsia - fact sheet http://www.wtps.org/wths/imc/Teacher_Assignment/science/ferri genetic disorders.
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The Pingelapese Colorblind complete achromatopsia is not rare but a rather common genetic disorder. Genetic basis of total colourblindness among the Pingelapese islanders. http://www.genomenewsnetwork.org/articles/06_00/pingelapese_colorblind.shtml
Extractions: June 30, 2000 Confined to a world of grays, blacks and whites, five percent of the Pingelapese islanders have never seen any colors. Pingelap, also called "the island of the colorblind", is a tiny atoll in the Western Pacific, one of the Eastern Caroline Islands of Micronesia, where complete achromatopsia is not rare but a rather common genetic disorder. Of the 3,000 Pingelapese, about one in twenty is suffering from total colorblindness paired with extreme sensitivity to light and reduced visual acuity. Totally colorblind individuals can only see shades of gray, black and white (simulation). Nature Genetics There is presently no treatment for total colorblindness available. The identification of the causative gene provides a genetic basis for tests to detect carriers and represents a first step towards potentially new treatments in the future involving gene therapy.
Specific Conditions achromatopsia achromatopsia MedicineNet More information grey line Spinocerebellar Ataxia Making the Right Choice About Genetic Testing University of http://www.noah-health.org/en/genetic/conditions/
Genetic Disorders More about What are Genetic Disorders? achromatopsia Adrenoleukodystrophy Aicardi Syndrome Albinism/Hypopigmentation Alexander Disease http://www.noah-health.org/en/genetic/
OptiGen - Cone Degeneration Test - Canine Genetic Testing Diagnostic lab service and information for genetic diseases in purebred dogs . genetic disease achromatopsia total color blindness and dayblindness. http://www.optigen.com/opt9_test_cd.html
Extractions: SEARCH: For: German Shorthaired Pointers Reliable identification of dogs that do not carry disease genes is the key to controlling autosomal recessive diseases. The OptiGen CD test enables 100% accurate identification of these dogs. Called "genetically clear," "noncarriers" or, more formally, "homozygous normals," such dogs can pass only the normal gene on to all their pups - which means that none of their pups can ever be affected with CD. These "clear" dogs can be bred to any mate, even to a CD-affected German Shorthaired Pointer, which may be a desirable breeding prospect for other reasons. Homozygous means both copies of the gene in your dog are the SAME - both normal or both CD. A carrier has one normal and one CD gene. Because the OptiGen CD test is a mutation-based gene test, it accurately and specifically identifies normal dogs, carriers (heterozygous dogs) and affecteds. Possible test results are listed in the table below. Possible results for a German Shorthaired Pointer using the OptiGen CD test Test Result* Genotype of GSHP Tested Significance For Breeding Risk For Developing CD N Normal Can be bred to any GSHP Will never develop CD C Carrier Carrier of CD Will never develop CD A Affected Homozygous for CD Will develop CD *This is the result that will be reported when a GSHP is tested using the OptiGen CD test.
The Johns Hopkins Center For Hereditary Eye Diseases An International Referral Center for Genetic Eye Diseases and Ocular Diseases genes causing Lebers congenital amaurosis, achromatopsia, and nystagmus. http://www.hopkinsmedicine.org/wilmer/research/hered.html
Extractions: The Johns Hopkins Center for Hereditary Eye Diseases An International Referral Center for Genetic Eye Diseases and Ocular Diseases of Childhood Many eye diseases have a genetic component; similarly, many genetic diseases and birth defects have significant ocular pathology. Irene H. Maumenee, M.D The Laboratory of the Johns Hopkins Center for Hereditary Eye Diseases has developed a DNA registry and receives specimens from all over the world. Sophisticated tests performed in the laboratory include those for diseases such as oculocutaneous albinism, retinitis pigmentosa and other hereditary retinal dystrophies, retinoblastoma, colobomatous malformations, anterior segment malformations, storage diseases, familial retinal detachments (including Norrie disease), congenital cataracts, dislocated lenses, and congenital glaucoma. The Center's laboratory will soon offer clinical DNA diagnosis of some genetic eye diseases, including affection, carrier status and prenatal diagnosis. More than 55 fellows have been trained in the Johns Hopkins Center for Hereditary Eye Diseases; many have established similar centers in the USA and abroad. Irene H. Maumenee, M.D. developed the sub-specialty of ophthalmic genetics. She is board-certified in ophthalmology and in medical genetics, and has appointments in the departments of ophthalmology, pediatrics, and medicine (division of genetics) at the Johns Hopkins Medical Institutions. She is the founder and president of the International Society for Genetic Eye Disease and of the Ophthalmic Genetics Study Club, and has trained many of those at the forefront of ophthalmic genetics.
ICVS Daltoniana June 1999 To obtain insights into the genetic basis of achromatopsia, as well as into thegenetic history of this region of Micronesia, a genome wide search for http://orlab.optom.unsw.edu.au/ICVSFolder/Daltoniana.June99.html
Extractions: Abstracts President General Secretary Ken Knoblauch Treasurer Ted Sharpe Membership Secretary Anne Kurtenbach Daltoniana Editor Stephen Dain Proceedings Editors Dick Cavonius Ken Knoblauch, Barry Lee and Joel Pokorny Committee Jenny Birch Dick Cavonius , Stephen Dain Kenji Kitahara ... Eberhart Zrenner This will be our 15th meeting but the second under the banner of our new name. We should probably consider renaming our proceedings as well since 'Colour Vision Deficiencies' suggests a more limited subject matter than is included within. A simple suggestion is Proceedings of the ICVS, but if you have a more succinct and pithy title, I would like to hear your suggestions. See previous Daltoniana for full details of venue The following forms were mailed out with the February Daltoniana and are still available on the web
Eyes - Vision Total colorblindness is called complete achromatopsia. A British team ofresearchers for the first time quantified the genetic component of age-related http://www.crystalinks.com/eyes2.html
Extractions: Blind 'See' with Sound The photograph of the bridge, top, was translated into the middle outline and conveyed through music to a blind subject. The subject produced the bottom image of the bridge using the musical description. October 29, 2000 - AP Two blind people in England were able to imagine and draw pictures of cars, buildings, landscapes - even a painting by Cezanne - that were all described to them through music. B.K., a 52-year-old man, and M.S., a 49-year-old woman, both lost their sight over 20 years ago. And yet, by training their ear to listen for images encoded into music, they were able to "see" images in their imagination. The technique works by using a computer to digitize images and then relay them numerically into musical form. The length of horizontal lines are conveyed by how long a single note is held. Vertical lines are made going up or down the musical scale. The subjects' ears are then trained to hear what a certain line sounded like. For instance, a horizontal line of a certain length that's rising sounds like this, and vert one sounds like that.
Blue Cone Monochromats A molecular genetic analysis of the M and Lcone photopigment gene array on The photoreceptors in atypical achromatopsia. Journal of Physiology, 417, http://cvrl.ioo.ucl.ac.uk/database/text/intros/introbmono.htm
Extractions: , who concluded that they had rods and S-cones, but lacked M- and L-cones. Though two studies suggested that blue-cone monochromats might also possess a second cone type containing the rod photopigment Pedigree studies show that blue-cone monochromacy is an X-linked recessive trait (e.g., Falls, 1960; Spivey, 1965) . A molecular genetic analysis of the M and L-cone photopigment gene array on the X-chromosome of blue-cone monochromats shows that the deficit can arise for a number of different reasons, including deletions, or loss of function due to homologous recombination and point mutation (Nathans et al., 1989; Nathans et al., 1993) Spectral sensitivities in "classic" blue-cone monochromats have been measured several times before ( , and are typical of the S-cones. A concern about the use of blue-cone monochromats to obtain a standard S-cone spectral sensitivity for central vision, however, is that they usually fixate extrafoveally (but there are exceptions, see Hess et al., 1989). Consequently, in order to use blue-cone monochromats to estimate normal S-cone spectral sensitivity, it is necessary to estimate their macular and photopigment optical densities, and, if necessary, correct them to normal density values. Moreover, some individuals in pedigrees with blue-cone monochromacy reveal residual L-cone function if large or even small test fields are used
Suzanne M. Leal, Ph.D. Statistical genetics; genetic epidemiology; gene mapping and identification;nonsyndromic hearing loss. http://imgen.bcm.tmc.edu/molgen/facultyaz/leal.html
Extractions: My interest in statistical genetics/genetic epidemiology lies in the mapping of complex and Mendelian traits and understanding the interactions between genes and between genes and the environment. In addition to applied work of localizing disease loci through statistical genetic methods, I am interested in methodological research. On the applied side, I have been involved in the study of a variety of disease phenotypes including: retinitis pigmentosa, lebers congenital amaurosis, prion disease, epilepsy, cystinosis, Parkinson's disease, schizophrenia, and achromatopsia. I am currently working on several mapping projects that include: migraine, obesity, drug addiction, and non-syndromic hearing loss. A variety of statistical genetic methods are implemented to analyze the data including parametric and non-parametric linkage analysis and statistical methods for association studies.
Richard Alan Lewis, M.D., M.S. Eye genetics, keratoconus, Stargardt (disease), Leber congenital amaurosis,BardetBiedl (Syndrome), Aicardi (Syndrome), recessive Retinitis Pigmentosa, http://imgen.bcm.tmc.edu/molgen/facultyaz/lewis.html
Extractions: Dr. Lewis, an ophthalmologist at the Cullen Eye Institute and the Alkek Eye Center, is a consultant in genetic eye disorders to the Kleberg Genetics Center at Texas Children's Hospital and the Baylor affiliate hospitals. His clinical practice of retinal and uveal diseases includes hereditary eye disease and the ocular manifestations of systemic hereditary disease. He pioneered the mapping of X-linked ocular diseases, including X-linked Retinitis Pigmentosa, Choroideremia, the Oculo-Cerebro-Renal Syndrome of Lowe, Blue Cone Monochromacy, X-linked (Nettleship-Falls) Ocular Albinism (OA1), and the Nance-Horan X-linked cataract-dental syndrome. In collaboration with Dr. James Lupski, we are studying autosomal recessive ocular and retinal disorders, such as Stargardt disease/Fundus Flavimaculatus (a form of juvenile macular degeneration), the (Laurence-Moon-) Bardet-Biedl syndrome (BBS combines retinal dystrophy, obesity, polydactylia, developmental retardation, and renal disease), Rod Monochromacy (complete congenital achromatopsia), Fundus Albipunctatus (a form of hereditary nightblindness), and Leber Congenital Amaurosis (a group of disorders causing blindness from birth).
Extractions: This Article Full Text Full Text (PDF) Submit a response ... Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in ISI Web of Science Similar articles in PubMed ... Download to citation manager PubMed PubMed Citation Articles by Rosenberg, T. Articles by Wissinger, B. Thomas Rosenberg, Britta Baumann, Susanne Kohl, Eberhart Zrenner, Arne Lund Jorgensen, and Bernd Wissinger From the Gordon Norrie Centre for Genetic Eye Diseases, National Eye Clinic for the Visually Impaired, Hellerup, Denmark; the Institute of Human Genetics, University of Aarhus, Denmark. PURPOSE The present study was designed to elucidate the molecular genetic basis of a congenital stationary cone dysfunction characterized by congenital nystagmus, moderate visual impairment, and markedly
Portal Toolkit Invalid Site URL Genetic analysis recently has allowed identification of genes of Xlinked Evidence shows that patients with achromatopsia, congenital stationary night http://www.co-ophthalmology.com/pt/re/coophth/fulltext.00055735-200010000-00007.
Further Thought Bodmer and McKie (1995) review several cases, similar to achromatopsia in thePingelapese, in which genetic diseases occur at unusually high frequency in http://wps.prenhall.com/esm_freeman_evol_3/0,8018,849233-,00.html
Extractions: Further Thought Use the questions at the end of the chapter to explore concepts and connections in greater depth through application and synthesis. Conservation managers often try to purchase corridors of undeveloped habitat so that larger preserves are linked into networks. Why? What genetic goals do you think the conservation managers are aiming for? Hint Nature Genetics Hint Loss of heterozygosity may be especially detrimental at MHC loci, because allelic variability at these loci increases disease resistance. Surveys of microsatellite loci show that the gray wolves on Isle Royale, Michigan are highly inbred (Wayne et al. 1991). This wolf population crashed during an outbreak of canine parvovirus during the 1980s. How might these disparate facts be linked? How could you test your ideas? Hint If you were a manager charged with conserving the collared lizards of the Ozarks, one of your tasks might be to reintroduce the lizards into glades in which they have gone extinct. When reintroducing lizards to a glade, you will have a choice between using only individuals from a single extant glade population, or from several extant glade populations. What would be the evolutionary consequences of each choice, for both the donor and recipient populations? Which strategy will you follow, and why? Hint Bodmer and McKie (1995) review several cases, similar to achromatopsia in the Pingelapese, in which genetic diseases occur at unusually high frequency in populations that are, or once were, relatively isolated. An enzyme deficiency called hereditary tyrosinemia, for example, occurs at an unusually high rate in the Chicoutimi region north of Quebec City in Canada. A condition called porphyria is unusually common in South Africans of Dutch descent. Why are genetic diseases so common in isolated populations? What else do these populations all have in common?
Study And Review Define the term genetic drift and give a verbal explanation of this process . the frequency of achromatopsia in the Pingepalese people to illustrate. http://wps.prenhall.com/esm_freeman_evol_3/0,8018,849217-,00.html
Extractions: Study and Review These essay/discussion questions provide a comprehensive review of the facts and concepts presented in each chapter, with special attention to connections among scientific facts, individual case studies, and broader principles. Define migration in the context of evolutionary biology. Describe the one-island model of migration, and explain its key predicted outcome. Hint Explain the role of selection and migration in the maintenance of polymorphism in banding patterns in island forms of the Lake Erie water snake. Be sure to discuss what pattern would be expected if either process were operating without the other. Hint Describe Giles and Goudet's study of red bladder campion and the effects of migration on genetic diversity in these plants. Be sure to explain the natural history of their study site and the way(s) in which this created a good model system for the study of migration. What predictions did they make, and how did they test them? What were their key findings? Hint Define the term "genetic drift" and give a verbal explanation of this process. Defend the argument that genetic drift results in evolutionary change but not in adaptive change. When drift operates, which of the assumptions of the Hardy-Weinberg equilibrium principle has been violated? What is the general relationship between the effect of drift and population size?
Ask NOAH About: Genetic Disorders Living with Genetic Diseases. Specific Conditions. achromatopsia Adrenoleukodystrophy Aicardi Syndrome Albinism/Hypopigmentation Alexander Disease http://www.watauga.k12.nc.us/staff/stonesiferj/Ask NOAH About Genetic Disorders.
Extractions: Ask NOAH About: Genetic Disorders is a work-in-progess on diseases that have a known or suspected genetic origin. This page will attempt to keep pace with the the Human Genome Project's published breakthoughs on genetic medicine. If the genetic disorder you need information on is not listed here, please try the NOAH search engine . For information on basic genetics, please visit Ask NOAH About: Genetics, Genomes, Cell Biology, and Cloning What are Genetic Disorders? Genetics Basics Information Resources What Are Genetic Disorders? Genetics Basics The Basics Birth Defects - Merck Manual, 2nd Home Edition Birth Defects - March of Dimes (NOAH PROVIDER) (also in Spanish Changes to Chromosomes - New South Wales Genetics Program, Australia Changes to Chromosomes: Translocations - New South Wales Genetics Program, Australia An Introduction to Genetics and Genetic Testing - Kidshealth ... Genetics and Neuromuscular Diseases - Muscular Dystrophy Association (also in Spanish Genetics Overview - Merck Manual Home Edition Genes and Disease - NCBI ... Genes and Populations - National Institute of General Medical Sciences (also in Spanish Heritable Disorders of Connective Tissue - NIAMS Impact of Medical Genetics - Mountain States Genetics Network Simply Stated: Genetic Myths - Muscular Dystrophy Association ... What are Genetic Disorders? - University of Utah
Teacher Channel: Glossary Of Terms achromatopsia the inability to see any colour. colourblindness - a geneticcondition which results in an inability to distinguish certain colours and http://www.schools.net.au/edu/lesson_ideas/optics/glossary.html
Extractions: OPTICS - Glossary of Terms a b c d ... z accommodation - the ability of the eye to change the focus of the eye from distant to near objects. This process is achieved by changing the curvature of the lens. At rest the lens is focused for distant objects, and is able to focus on near objects by becoming more convex by the contraction of the ciliary muscles achromatopsia - the inability to see any colour. It is an extremely rare and serious form of colourblindness. Statistics report that this condition affects only one person in about 33,000. acuity - the visual ability to resolve fine detail adaptation - a change in an organism, resulting from exposure to certain environmental conditions, allowing it to respond more effectively to them. Albers - was an important teacher of material and design at the Bauhaus school. Interactions of Color , the definitive work on color theory was written by Albers in America after fleeing Germany during World War 2. albinism - failure to develop pigment particularly melanin in skin, hair and iris. Resulting in light-skinned with white hair and 'pink' eyes due to reflection of the choroid capillaries behind the retina . It is a genetic condition. amblyopia - also termed 'lazy eye'. It is a visual defect that affects approximately 2 or 3 out of every 100 children in the United States.
