41. Eye Health Organizations List Seeks to promote awareness and education about achromatopsia. Funds researchon the molecular genetics of glaucoma and on optic nerve regeneration. http://www.nei.nih.gov/health/organizations.htm

Health Funding News Laboratories ... Health Information Eye Health Organizations List The following organizations provide eye health-related informationto the public. You may find it useful to contact them about your information request. These organizations may also be able to refer you to resources in your area. Eye Care Associations General Organizations Resources for Parents and Teachers of Children with Visual Impairments Disease Specific Organizations ... Selected Resources for People with Low Vision Eye Care Associations American Academy of Ophthalmology P.O. Box 7424 San Francisco, CA 94120-7424 http://www.aao.org American Optometric Association 243 N. Lindbergh Boulevard St. Louis, MO 63141 AmOptCCC@aol.com http://www.aoanet.org top General Organizations American Council of the Blind 1155 15th Street, NW, Suite 1004 Washington, DC 20005 info@acb.org http://www.acb.org American Foundation for the Blind 11 Penn Plaza, Suite 300 New York, NY 10001 afbinfo@afb.org http://www.afb.org Regional Offices: Chicago, IL (312) 245-9961 Dallas, TX (214) 352-7222

42. Retina International's Scientific Newsletter - Colour Vision Defects Loci recessive achromatopsia. 1998; Am.J.Hum.Genet. 63 A301 Goto Top. 6. Nathans,J.,Piantanida,TP, Eddy,RL, Shows,TB, and Hogness,DS Molecular genetics of http://www.retina-international.org/sci-news/coldef.htm

Retina International's Scientific Newsletter Disease Database Colour Vision Defects Recent update from: 08.02.01 Disease Gene locus MIM Gene Gene MIM MoI Assignment Linked Marker [cM] Remarks References Achromatopsia ar Achromatopsia ar PDP Pingelapese Islanders German American Deuteranopia GCP, RCP xl Protanopia GCP, RCP xl Tritanopia BCP ad MoI = Mode of Inheritance: a: autosomal, ad: autosomal dominant, ar: autosomal recessive, xl: x-linked, mt: mitochondrial References . Arbour,N.C., Zlotogora,J., Knowlton,R.G., Merin,S., Rosenmann,A., Kanis,A.B., Rokhlina,T., Stone,E.M., and Sheffield,V.C. Homozygosity mapping of achromatopsia to chromosome 2 using DNA pooling. 1997; Hum.Mol.Genet. 6: 689-694. Goto Top . Fitzgibbon,J., Appukuttan,B., Gayther,S., Wells,D., Delhanty,J., and Hunt,D.M. Localisation of the human blue cone pigment gene to chromosome band 7q31.3-32. 1994; Hum.Genet. 93: 79-80. Link to PudMed Goto Top . Kohl,S., Baumann,B., Broghammer,M., Jagle,H., Sieving,P., Kellner,U., Spegal,R., Anastasi,M., Zrenner,E., Sharpe,L.T., and Wissinger,B. Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21. 2000; Hum.Mol.Genet. 9: 2107-2116. Link to PudMed Goto Top . Kohl,S., Marx,T., Giddings,I., Jagle,H., Jacobson,S.G., Apfelstedt-Sylla,E., Zrenner,E., Sharpe,L.T., and Wissinger,B. Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel. 1998; Nat.Genet. 19: 257-259.

43. Retina International's Scientific Newsletter - Cone Cyclic Nucleotide-gated Cati achromatopsia, Gly 557 Arg, GA, 1709, 7, Heterozygous, (1). Molecular genetics LaboratoryDepartment of Pediatric Ophthalmology, Strabismology and Ophthalmogenetics http://www.retina-international.org/sci-news/cnga3mut.htm

Retina International's Scientific Newsletter Mutation Database Mutations of the Cone Cyclic Nucleotide-gated Cation Channel Recent update from: 18.07.99 Phenotype Mutation Basechange Nucleotide Exon Restriction Site Classification Mutation Database OMIM Reference Achromatopsia Pro 163 Leu C-T -NlaIV Homozygous Achromatopsia Arg 283 Trp C-T -MspI Homozygous Achromatopsia Arg 283 Gln G-A Heterozygous Achromatopsia Thr 291 Arg C-G Heterozygous Achromatopsia Arg 411 Trp C-T +NlaIII Heterozygous Achromatopsia Val 529 Met G-A +NcoI Heterozygous Achromatopsia Phe 547 Leu C-A Heterozygous Achromatopsia Gly 557 Arg G-A Heterozygous Polymorphism IVS4+91g-c g-c Polymorphism IVS2+46g-t g-t Polymorphism IVS2+16g-a g-a Polymorphism Asp 24 Asp C-T Polymorphism Thr 66 Thr C-T Polymorphism Thr 153 Met C-T -BbsI References 1. Kohl, S., Marx, T., Giddings, I., Jagle, H., Jacobson, S.G., Apfelstedt-Sylla, E., Zrenner, E., Sharpe, L.T., and Wissinger, B. Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel. 1998; Nat.Genet. 19: 257 - 259. Goto Top Link to PudMed Return to Retina International's Scientific Newsletter ... Return to pagehead Contact the editor: irpamp@irpa.org

44. WebMD - Index Men, Lifestyle Parenting Pregnancy Diet Nutrition Family genetics. for HeadacheEducation) Support Group Headaches achromatopsia achromatopsia Network http://my.webmd.com/content/healthwise/93/23105.htm

WebMD Today Home WebMD Newscenter Member Services WebMD University My WebMD Find a Doctor, Clinic Medical Info Check Symptoms Medical Library Quizzes, Calculators Clinical Trials ... Family Genetics Who We Are About WebMD Health Mall Sponsored: Lose Lbs Naturally Heart Failure? Trouble Focusing? You are in Medical Library Choose a Topic Our Content Sources Health Guide A-Z Ask A Question Clinical Trials Health Topics Symptoms Medical Tests Wellness ... Support Organizations Search the Help Support Groups Click a letter to see a list of topics beginning with that letter A B C D ... AW A- A-T Children's Project - Ataxia back to top A. A.L.S. Association - ALS (Lou Gehrig's Disease) A.P.N.E.A Net - Apnea A.W.A.K.E. (American Sleep Apnea Association) Network Groups - Apnea back to top AA AABCA (African American Breast Cancer Alliance) - Breast Cancer AARP - Aging / Older Persons AARP Grief and Loss Programs - Bereavement (General) AARP Grief and Loss Programs - Widows / Widowers ... back to top AB Abiding Hearts, Inc. - Childbirth / Breastfeeding Abiding Hearts, Inc. - Parents of Premature / High Risk Infants ABIL (Agoraphobics Building Independent Lives), Inc. - Anxiety Attacks / Phobias / Agoraphobia Ability Online Support - Disabilities (General) / Spinal Cord Injury / Paralysis ... back to top AC ACCESS (Aircraft Casualty Emotional Support Services) - Accident Victims Access Board - Disability Helpline Accident Victims ACHE (American Council for Headache Education) Support Group - Headaches ... Action, Parent and Teen Support - Youth Helpline

45. WebMD - Lifestyle Parenting Pregnancy Diet Nutrition Family genetics. nord Achondroplasianord Achondroplastic Dwarfism nord achromatopsia shc achromatopsia http://my.webmd.com/content/healthwise/106/26476.htm

WebMD Today Home WebMD Newscenter Member Services WebMD University My WebMD Find a Doctor, Clinic Medical Info Check Symptoms Medical Library Quizzes, Calculators Clinical Trials ... Family Genetics Who We Are About WebMD Health Mall Sponsored: Lose Lbs Naturally Heart Failure? Trouble Focusing? You are in Medical Library Choose a Topic Our Content Sources Health Guide A-Z Ask A Question Clinical Trials Health Topics Symptoms Medical Tests Wellness ... Support Organizations Search the Help All Topics Click a letter to see a list of topics beginning with that letter A B C D ... AZ A- A-T Children's Project - Ataxia [shc] back to top A. A.L.S. Association - ALS (Lou Gehrig's Disease) [shc] A.P.N.E.A Net - Apnea [shc] A.W.A.K.E. (American Sleep Apnea Association) Network Groups - Apnea [shc] back to top ... back to top AA AABCA (African American Breast Cancer Alliance) - Breast Cancer [shc] AARP - Aging / Older Persons [shc] AARP Grief and Loss Programs - Bereavement (General) [shc] AARP Grief and Loss Programs - Widows / Widowers [shc] ... back to top AB Abdominal Migraine [nord] Abdominal Muscle Deficiency Syndrome [nord] Abdominal Pain, Age 11 and Younger [symptom-topic] Abdominal Pain, Age 12 and Older [symptom-topic] ... back to top AC ACADL [nord] ACADM Deficiency [nord] Acanthocheilonemiasis [nord] Acanthocytosis [nord] ... Acidemia, Isovaleric [nord]

46. Melaleuca - Great Bio Websites Genetic Disorders Achondroplasia — Dwarfism http//www.usoe.k12.ut.us/curr/Science/core/bio/genetics/achondroplasia.htm;achromatopsia — Hereditary vision http://shs.westport.k12.ct.us/mdevito/great.html

Biology Glossary http://www.mhhe.com/sciencemath/forestryenviron/pae/glossary.html Cells http://www.cellsalive.com/ http://www.borg.com/~lubehawk/cell.htm Chemistry Periodic Table http://wild-turkey.mit.edu/Chemicool/ Organic Molecules http://www.borg.com/~lubehawk/biochem.html Chromosomes http://www.chromodisorder.org/intro.htm http://users.rcn.com/jkimball.ma.ultranet/BiologyPages/C/Chromosomes.html Genetic Counselors http://gslc.genetics.utah.edu/units/disorders/counselors/ back to top Genetic Disorders Achondroplasia — Dwarfism http://www.usoe.k12.ut.us/curr/Science/core/bio/genetics/achondroplasia.htm Achromatopsia Hereditary vision disorder http://www.achromat.org/what_is_achromatopsia.html Albinism — Complete with extensive hyperlinks http://www.cbc.umn.edu/iac/facts.htm Alpha-1 Antitrypsin Deficiency — Information, 9 linked topics http://www.nhlbi.nih.gov/health/public/lung/other/antitryp.htm Alzheimer's disease: Genetic factors — Elementary http://gslc.genetics.utah.edu/units/newborn/infosheets/apoe.cfm

47. Achromatopsia be diagnosed by a neurologist rather than eye specialists because it from braindisorders and not genetics are involved. Also, cerebral achromatopsia is not http://pages.framingham.k12.ma.us/fhssci/science/teachers/Slot/achromatopsia.htm

Achromatopsia by Josh Kaitz and Stephen Rakusin Achromatopsia, a rare hereditary disorder, occurs in about one out of every thirty-three thousand Americans. In fact, some optometrists and Ophthalmologists can work a lifetime without diagnosing or even examining someone with Achromatopsia. This genetic disease causes complete color blindness due to irregular cone vision. Achromats must rely on their rod vision, which is not as powerful as cone vision, and thus they typically have poor visual acuity, hypersensitivity to light, and nystagmus. The gene is inherited as an autosomal recessive gene and is found on the second chromosome. The disease comes in many different severities from mild to severe: complete Achromatopsia, incomplete Achromatopsia, and blue cone Achromatopsia. This is an extremely hard disorder to diagnose because it is similar to cone dystrophy except achromat’s eyes do not continually worsen. The Achromatopsia gene is found on chromosome two at location 2q11( http://www.ajo.com after brought to this site, type in Achromatopsia at the search engine) , and it is inherited as a recessive gene. This means that it does not show up if a person has a dominant normal gene, but can show up in one’s children if each parent has this recessive gene. The name for the actual gene is CNGA3.

48. Menü · Start Page. What is achromatopsia? · Retina · genetics · Diagnose· Therapy. Seeing with achromatopsia · Colours · Nystagmus http://www.achromatopsie.nl/en/menu.html

· Start Page What is Achromatopsia? · Retina · Genetics · Start Page What is Achromatopsia? · Retina · Genetics ... · Literature

49. HUM GEN REPORTS Alzheimer's disease genetics, Garvin, Cheryl, Wesley, Dawn, Achondroplasia,Maxwell, Kelly (11/30), achromatopsia, Alpha1 Antitrypsin Deficiency, http://a-s.clayton.edu/hampikian/1901H/REPORTS1999/_GeneticDiseaseList.html

GENETICS REPORTS DUE NOV. 22nd [Final Report Form] [List] Final Report Format Use a size 12 font, number your pages at the bottom. THIS IS A STUDENT REPORT AND MAY CONTAIN INACCURACIES. IF YOU WISH TO QUOTE FROM IT YOU MUST GET THE WRITTEN PERMISSION OF DR. GREG HAMPIKIAN greghampikian@mail.clayton.edu I. Disease Name, by Your Name II. Chromosomal Location III. Type of inheritance (for example, sex-linked, autosomal dominant, mitochondrial...) IV. Incidence Note any special distributions (racial, sexual, geographical etc.) V. Symptoms. Make sure that you state the most common symptoms first. Whenever possible indicate in what % of patients each syndrom is found. VI. Metabolic causes of the symptoms VII. Treatments VIII. Latest research Summarize at least two new studies on your disease. The best way to get articles about your disease is through "Medline" which is available from the Galileo databases. (Copy the abstarcts for section XII.) IX. A ten question quiz with answers at the bottom. X. Bibliography

50. Color Blindness Periodicals Arbour, NC, et al. Homozygosity Mapping of achromatopsia to Chromosome2 Using DNA Pooling. Human Molecular genetics 1997 May; 6, no. 5 689694. http://www.healthatoz.com/healthatoz/Atoz/ency/color_blindness.html

Encyclopedia Index C Home Encyclopedia Encyclopedia Index C Color blindness Definition Color blindness is an abnormal condition characterized by the inability to clearly distinguish different colors of the spectrum. The difficulties can be mild to severe. It is a misleading term because people with color blindness are not blind. Rather, they tend to see colors in a limited range of hues; a rare few may not see colors at all. Description Normal color vision requires the use of specialized receptor cells called cones, which are located in the retina of the eye. There are three types of cones, termed red, blue, and green, which enable people to see a wide spectrum of colors. An abnormality, or deficiency, of any of the types of cones will result in abnormal color vision. There are three basic variants of color blindness. Red/green color blindness (deuteranopia) is the most common deficiency, affecting 8% of Caucasian males and 0.5% of Caucasian females. The prevalence varies with culture. Blue color blindness (protanopia) is an inability to distinguish both blue and yellow, which are seen as white or gray. Protanopia is quite rare and has equal prevalence in males and females. It is common for young children to have blue/green confusion that becomes less pronounced in adulthood. Blue color deficiency often appears in people who have physical disorders such as liver disease or diabetes mellitus A total inability to distinguish colors (achromatopsia) is exceedingly rare. These affected individuals view the world in shades of gray. They frequently have poor visual acuity and are extremely sensitive to light (photophobia), which causes them to squint in ordinary light.

51. Research Projects achromatopsia Mutation screening in Danish achromatopsia patients in collaboration Young,Pediatric Ophthalmology and Ophthalmic genetics, Children's Hospital http://www.visaid.dk/english/research.asp

Tilbage til menu Go to main page Research projects ACHROMATOPSIA Mutation screening in Danish achromatopsia patients in collaboration with Susanne Kohl and Bernd Wissinger, Tübingen, Germany. BARDET-BIEDL SYNDROME Mutation screening and mapping of Danish and Faroese families with Bardet-Biedl syndrome in collaboration with Tine Duelund Sørensen and Karen Grønskov, The John F. Kennedy Institute, Glostrup, Denmark. CONE-ROD DYSTROPHY Homozygosity mapping in a family with CRD, in collaboration with Andreas Gal, Hamburg, Germany. CONGENITAL CATARACT, DEAFNES, RETINITIS PIGMENTOSA SYNDROME Homozygosity analysis in an inbred family, in collaboration with Karen Brøndum-Nielsen, The John F. Kennedy Institute, Glostrup, Denmark. DOMINANT INFANTILE OPTIC ATROPHY Mutation analyses in Danish families in collaboration with Christiane Alexander, Max-Delbrück-Center, Berlin, Germany. HIGH HYPEROPIA/POSTERIOR MICROPHTHALMIA Linkage analysis in Faraoese families in collaboration with Hans Fledelius, Josefine Fuchs, Copenhagen, Denmark and Andreas Gal, Hamburg, Germany. LEBER'S CONGENITAL AMAUROSIS Mutation screening in Danish LCA-patients, in collaboration with Marcus Preising, Regensburg, Germany.

52. Recent Papers the cone photoreceptor Gprotein alpha-subunit gene GNAT2 in patients with achromatopsia. thegene for X-linked retinitis pigmentosa 2. Nature genetics 19327 http://www.visaid.dk/english/recent.asp

Tilbage til menu Go to main page Recent papers Publications 1998-2002: Katzke S, Booms P, Tiecke F, Palz M, Pletschacher A, Turkmen S, Neumann LM, Pregla R, Leitner C, Schramm C, Lorenz P, Hagemeier C, Fuchs J, Skovby F, Rosenberg T, Robinson PN. TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies. Hum Mutat. 2002 Sep;20(3):197-208. Robinson PN, Booms P, Katzke S, Ladewig M, Neumann L, Palz M, Pregla R, Tiecke F, Rosenberg T. Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies. Hum Mutat. 2002 Sep;20(3):153-61. Review. Kleta R, Skovby F, Christensen E, Rosenberg T, Gahl WA, Anikster Y. 3-Methylglutaconic aciduria type III in a non-Iraqi-Jewish kindred: clinical and molecular findings. Mol Genet Metab. 2002 Jul;76(3):201-6. Kohl S, Baumann B, Rosenberg T, Kellner U, Lorenz B, Vadala M, Jacobson SG, Wissinger B. Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia. Am J Hum Genet. 2002 Aug;71(2):422-5.

53. Publikationen -- Publications: U. Kellner genetics of retinal photoreceptorcGMP gated channel are responsible for achromatopsia (ACHM3) linked to http://retinadiagnostic.de/publikationen1.html

Home_Elektrophysiologie - deutsch Home_Electrophysiology - english aktualisiert: 22.1.03 Publikationen Publications Nach Themen sortiert - Sorted by topic Zapfendystrophien Cone dystrophies Andere Netzhautdystrophien Other retinal dystrophie Genetik von Netzhauterkrankungen Genetics of retinal dystrophies Elektrophysiologie Electrophysiology ... Sonstiges Miscellaneous / Reviews: retinal dystrophies and electrophysiology Zum Seitenanfang Top of page M. Bach , U. Kellner: Elektrophysiologische Diagnostik in der Ophthalmologie [Electrophysiological diagnosis in ophthalmology]. Ophthalmologe 2000; 97:898-920 M. Seeliger, B. Jurklies, U. Kellner, A. Palmowski, M. Bach, U. Kretschmann: Multifokale Elektroretinographie (mfERG). Ophthalmologe 2001;98:1112-1127 2. Zapfendystrophien / Cone dystrophies Zum Seitenanfang Top of page M.H. Foerster, U. Kellner, A. Wessing: Cone dystrophy and supernormal dark-adapted b-waves in the electroretinogram. Graefe`s Arch Clin Exp Ophthalmol 1990;228:116-119 M.F. Marmor, S.G. Jacobson, M.H. Foerster, U. Kellner, R.G. Weleber: Diagnostic clinical findings of a new syndrome with night blindness, maculopathy and enhanced blue cone sensitivity. Am J Ophthalmol 1990;110:124-134

54. Suzanne M. Leal, Ph.D. amaurosis, prion disease, epilepsy, cystinosis, Parkinson's disease, schizophreniaand achromatopsia. I teach courses in statistical genetics internationally. http://imgen.bcm.tmc.edu/molgen/facultyaz/leal.html

Open Frame in New Window Suzanne M. Leal, Ph.D. Associate Professor , Department of Molecular and Human Genetics B.S., Fordham University, New York, 1981 M.S., Columbia University, New York, 1989 Ph.D., Columbia University, New York, 1994 Postdoc, University of Tuebingen, Tübingen, Germany, 1996 Last modified: July 2002 Research Interests Selected Publications Contact Information Research Interests: 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.

55. Richard Alan Lewis, M.D., M.S. in genetic eye disorders to the Kleberg genetics Center at Texas and renal disease),Rod Monochromacy (complete congenital achromatopsia), Fundus Albipunctatus http://imgen.bcm.tmc.edu/molgen/facultyaz/lewis.html

Open Frame in New Window Richard Alan Lewis, M.D., M.S. Professor , Departments of Ophthalmology, Medicine, Pediatrics, and Molecular and Human Genetics Faculty Associate , Huffington Center on Aging B.A., Harvard College, 1965 M.D., University of Michigan Medical School, 1969 M.S., University of Michigan, 1974 Last modified: July 2002 Research Interests Selected Publications Contact Information Research Interests: Dr. Lewis is an ophthalmologist at the Cullen Eye Institute and the Alkek Eye Center and a consultant in genetic eye disorders to the Kleberg Genetics Center at Texas Children's Hospital. His clinical practice of retinal and uveal diseases includes hereditary eye 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, and the Nance-Horan X-linked cataract-dental syndrome. He was a substantial contributor to the isolation of the gene for X-linked (Nettleship-Falls) Ocular Albinism (OA1). Current investigations apply linkage strategies and the affected sibling-pair method to map and to isolate genes for recessively inherited ocular disorders, such as Stargardt Disease / Fundus Flavimaculatus (a form of juvenile macular degeneration), the (Laurence-Moon-) Bardet-Biedl syndrome (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. BBS1, the most common form of BBS, was mapped here and BBS6 was identified here first. The gene for Stargardt Disease was isolated and the role of this gene in Age-Related Macular Degeneration and autosomal and recessive forms of retinitis pigmentosa explored here first. In collaboration with

56. Re: Experience With Bcm of blue cone monochromacy, I refer them to the section on genetics in the book thatI make available for members of the achromatopsia Network (Understanding http://www.yandle.com/bcm/_disc/00000028.htm

Blue Cone Monochromacy Home Contents Search Post ... Up Re: experience with bcm From: Frances Date: 16 Mar 2001 Time: Comments http://www.achromat.org/uc_book.html Frances Futterman Last changed: March 16, 2001

57. WWWSITES MISCELLANEOUS. JOHN DALTON http//www.man.ac.uk/engineering/whnew/dalton.htm.THE achromatopsia NETWORK http//www.achromat.org. genetics. http://www.lifesciences.napier.ac.uk/BWS/courses/projects98/colourblindness/anni

RELATED INFORMATION ON THE WWW THE FOLLOWING INTERNET ADDRESSES TAKE YOU TO OTHER WEB SITES CONTAINING INFORMATION ABOUT COLOUR VISION DEFICIENCIES. SELECT A TOPIC OF INTEREST: GENERAL MISCELLANEOUS EYE ANATOMY AND VISION GENETICS ... WEB DESIGN GENERAL COLOUR BLINDNESS http://www.cimmerii.demon.co.uk/colourblind/index.html COLOUR BLINDNESS AND ITS EFFECTS ON AMATURE ASTONOMY http://www.multiboard.com/~joneil/colour.html COLOUR BLINDNESS - WHAT IS IT http://homepages.enterprise.net/markhenthorne/colour_vision/experiences.html HOMEPAGE ON COLOUR VISION DEFECTS http://www.geocities.com/HotSprings/8018 MISCELLANEOUS JOHN DALTON http://www.man.ac.uk/engineering/whnew/dalton.htm THE ACHROMATOPSIA NETWORK http://www.achromat.org COLOUR BLINDNESS TESTS http://www.umds.ac.uk/physiology/daveb/brainday/colourblindness/cblind.htm EYE ANATOMY AND VISION THE EVOLUTION OF TRICHROMATIC VISION http://www.uth.tmc.edu/uth_orgs/pub_affairs/uthouston/oct_95/color.html THE JOY OF VISUAL PERCEPTION http://www.yorku.ca/eye THE HISTORICAL ORIGIN OF COLOR VISION RESEARCH http://kiptron.psyc.virginia.edu/steve_boker/ColorVision2/node1.html

58. Current Research / Aktuelle Forschungsschwerpunkte We describe the mutations causal for complete achromatopsia in Kohlet al., (1998) Nature genetics, 19, 257259. Kjer Type Autosomal http://www.uak.medizin.uni-tuebingen.de/depii/groups/molgen/project.htm

Current Research / Aktuelle Forschungsschwerpunkte Animal Models. The introduction of defined modifications at a genomic level by gene targeting has become a widely used technique. Homologous recombination is used to generate mouse strains with such modifications. These genetically modified animals allow simple questions to be asked about elaborate and complex biological systems. The animal model takes two forms; the transgenic, where additional genetic material is introduced, and the 'knock-out', where the animal lacks a single gene product, or exhibits altered regulatory properties. The gene 'knock-out' mouse acts as a living laboratory for the analysis of mutant genes. The interaction of abnormal, mutant versions of proteins within the retinal cells can be studied. The mouse model permits a far greater degree of analysis than is possible with human subjects, for obvious ethical reasons. We are currently generating knock-out mice to model two retinal dystrophies; rod monochromasy ( a -subunit of the cone specific cGMP-gated cation channel; CNGA3) and hereditary vitamin A deficiency (retinol binding protein; RBP). Colour Vision/Colour Vision Defects.

59. Prof. Dr. Med. Eberhart Zrenner - Publications Translate this page B, Richards JE, Jacobson SG, Sieving PA, Gal A genetics and Phenotyps cone photoreceptorcGMP-gated channel are responsible for achromatopsia (ACHM3) linked http://www.uak.medizin.uni-tuebingen.de/zrenner/lit.php

Publications: E Zrenner Original Articles Monographs Survey Articles Abstracts ... Admin Mode Original Articles Please click on the reference index to request a reprint Rejdak R, Zarnowski T, Turski WA, Kocki T, Zagorski Z, Zrenner E, Schuettauf F: Alterations of kynurenic acid (KYNA) content in the retina in response to retinal ganglion cell damage. VISION RES Wutz K, Sauer C, Zrenner E, Lorenz B, Alitalo T, Broghammer M, Hergersberg M, Chapelle de la A, Weber BHF, Wissinger B, Meindl A, Pusch CM: Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna 1f expression profiling in mouse retina. EUR J HUM GENET Jacobi FK, Andréasson S, Langrova H, Meindl A, Zrenner E, Apfelstedt-Sylla E, Pusch CM: Phenotypic expression of the complete type of X-linked congenital stationary night blindness in patients with different mutations in the NYX gene. GRAEF ARCH CLIN EXP Laties AM, Zrenner E: Viagra (sildenafil citrate) and ophthalmology. PROG RETIN EYE RES Zrenner E: Retina-Implantate- Ersatz von Retinafunktionen durch technische Implantate: Ein gangbarer Weg zur Wiederherstellung des Sehens?. OPHTHALMOLOGE Zrenner E, Rüther K: Stand der Empfehlungen zur Gabe von Vitamin-A-Derivaten bei erblichen Netzhautdegenerationen. Retina aktuell

60. COS Expertise Profile Canine CNGB3 mutations establish cone degeneration as orthologous tothe human achromatopsia locus ACHM3. Human Molecular genetics. http://myprofile.cos.com/ostrander1

Fred Hutchinson Cancer Research Center Elaine A. Ostrander Fred Hutchinson Cancer Research Center Clinical Research Division Member Appointed: 2000 University of Washington School of Medicine Genome Sciences Affiliate Professor Appointed: 2002 University of Washington College of Arts and Sciences Zoology Affiliate Professor Appointed: 2002 Fred Hutchinson Cancer Research Center Human Biology Division Member Appointed: 2000 Mailing Address Fred Hutchinson Cancer Research Center 1100 Fairview Avenue N., D4-100 P.O. Box 19024 Seattle, Washington 98109-1024 United States Contact Information Phone: (206) 667-6979 Fax: (206) 667-6396 eostrand@fhcrc.org Qualifications Ph.D., Oregon Health Sciences University, Microbiology and Immunology, 1987 Expertise and Research Interests Dr. Elaine Ostrander's laboratory is interested in mapping and characterizing genes responsible for inherited disease in both dogs and humans. We are using three approaches. First, we are developing a canine genome map, and have used that map to identify genes which predispose naturally occurring populations of dogs to inherited disease. Second, we are screening two large cohorts of women with breast cancer to determine the distribution and frequency of mutations in the BRCA1 and BRC2 genes. Third, we have undertaken a genome-wide scan of high risk prostate cancer families to identify prostate cancer predisposition loci. Our recent efforts in mammalian genomics have focused on the development of the canine map. We constructed the first meiotic linkage map of the dog, and most recently have worked on the development of a high density canine radiation hybrid map, producing a 1500 marker radiation hybrid map in October 2001. Together with collaborators we have unraveled the evolutionary relationship between the canine and human genomes and developed an 1800 marker integrated cytogenetic, meiotic linkage, and radiation hybrid map that aligns the canine and human genomes. We are currently working towards completion of a 3400 marker map.

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