Egill Hansen (www.whonamedit.com) With Ingegerd Frøyshov Larsen and Kåre Berg. Clinical genetics, Copenhagen, 1978,13 190200. Clinical aspects of achromatopsia. Chapter 9, pages 316-334. http://www.whonamedit.com/doctor.cfm/1739.html
Extractions: Egill Hansen grew up together with two younger brothers in Rakkestad in south-eastern Norway, the son of Karl Fredrik Hansen, a butcher, and Agnes Helene Tjernnes. He graduated from the gymnasium Østfold Høgere Almenskole, Mysen, in 1948 as a private pupil. He studied medicine at the University of Oslo, graduating in 1954. After serving his internship at various hospitals, he became an eye specialist in 1964 and in 1966 he became assistant chief physician in the policlinic, department of ophthalmology at Rikshospitalet in Oslo. From 1966 he was in charge of the archives of the blind, and from 1967 to 1981 a consultant and attending physician to Huseby utdanningssenter for synshemmede, an educational institution for people with impaired vision. In 1979 he obtained his medical doctorate with a thesis on " Selective chromatic adaptation studies . ." In this work Hansen describes a new method for investigating receptor functions in eye diseases. In 1980 he won the Prize for hygiene from the Norwegian Medical Association for a work on the causes of blindness in Norway, based on the archives of the blind. Due to lack pf public funding this extremely valuable archive was closed in 1995. At the time, however, statistics had been produced and distributed in both Norwegian and English.
Bibliografi-artiklar W. Polland, «Different expressions of one gene for congenital achromatopsia withamblyopia a homozygous father with 11 children.» In Clinical genetics 18/1980 http://www.ddb.umu.se/forskning/bibliografi/artiklar.htm
Extractions: Journal of Family History, vol. 14, no. 3, 1989. Human Genetics , vol. 94, 1994, p. 124-128. Historical Methods Summer 1985. Volume 18, no. 3, p. 117-119. Bengtsson, Magdalena, "The Interpretation of Causes of Death among Infants". In Hygiea Internationalis vol 2, no 2 2002, 53-73. Abstract Journal of Neurology, Neurosurgery and Psychiatry, vol. 57, no. 4, 1994, p. 497-499. Clinical Genetics 21 Scandinavian Journal of Statistics , vol. 14, no. 2, p. 113-123, 1987. Journal of Tropical Pediatrics, DFI Tre kulturer. 3-4/1985, s. 148-168. Historisk Tidskrift, Socialmedicinsk Tidskrift Social History of Medicine, The History of the Family vol 1 no 2 1996. Abstract Individ och struktur i historisk belysning. Festskrift till Sune Åkerman. Umeå 1997, s.3.
ICVS Daltoniana February 2001 MOLECULAR genetics. Complete achromatopsia is a rare, autosomal recessive disordercharacterized by photophobia, low visual acuity, nystagmus and a total http://orlab.optom.unsw.edu.au/ICVSFolder/Daltoniana.Feb01.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 My 4 year term as General Secretary will be up in 2001. It is time to consider nominations for this post as well as for the Board of Directors. Nominations will be accepted at the Business meeting in Cambridge and voting will be by mail ballot, as usual. See you there. ICVS Meeting 2001 (web page http://www.icvs2001.org.uk/)
BUMC: Current Research Current Research. The Center for Human genetics is involved in researchprojects for achromatopsia; Alzheimer's Disease; Autism; Arthritis; http://www.bumc.bu.edu/Departments/PageMain.asp?Page=2234&DepartmentID=118
Colour Blindness: Links The achromatopsia Network web site gives wide ranging information and support. inWisconsin is a centre for colour vision research, specialising in genetics. http://www.chester.u-net.com/cvd/links.htm
Extractions: Vischeck is an innovative site. As well as offering several version of simulation software, it introduces a novel process termed Daltonizing. This adjusts the colour values of an image to reduce colour confusions for dichromats as far as possible, and so can be used to improve legibility of diagrams.
Ayyagari, Mol Vis 1999; 5:13. Molecular genetics of human blue cone monochromacy. Science 1989; 2458318. 11.Fleischman JA, O'Donnell FE Jr. Congenital X-linked incomplete achromatopsia. http://www.molvis.org/molvis/v5/a13/
Extractions: Department of Ophthalmology and Visual Sciences, W. K. Kellogg Eye Center, University of Michigan, Ann Arbor, MI Correspondence to: Radha Ayyagari, PhD, Center for Retinal and Macular Degeneration, Department of Ophthalmology and Visual Sciences, W. K. Kellogg Eye Center, 1000 Wall Street, Ann Arbor, MI, 48105; Phone: (734) 647-6345; FAX: (734) 936-7231; email: ayyagari@umich.edu Abstract Purpose: To describe unusual macular abnormalities in a family with blue cone monochromacy (BCM, or X-linked incomplete achromatopsia) and deletion of about 9.5 kb comprising part of the red pigment gene and the region upstream of the red pigment gene. Methods: The molecular structure of the red and green pigment genes and the locus control region (LCR) upstream of the red gene were studied for deletions, rearrangements and point mutations by Southern blot analysis and PCR. Four affected males (ages 33, 45, 51, and 59) and a carrier female (age 58) were examined by funduscopy and fluorescein angiography. Extensive color vision testing as well as rod and cone electroretinography (ERG) were performed on two of them. Results: Conclusions: We report the unusual association between macular atrophy and BCM resulting from the loss of an approximately 9.5 kb region encompassing the LCR, proximal red gene promoter elements and exon 1 of the red gene. However, loss of the LCR and promoter is not sufficient to explain the phenotype since we have observed other BCM families with similar deletions who do not exhibit macular changes.
Full Time Faculty Fishman Am J Human genetics, 6112871292, 1997. RJ, Grover, SD Legal blindness and employmentin patients with juvenile-onset macular dystrophies or achromatopsia. http://www.uic.edu/com/eye/department/facultypages/Full Time Faculty/Fishman.htm
Extractions: Ocular albinism is an ocular disease or eye disease characterized by a genetic condition in which the eyes lack melanin pigment, while the skin and hair show normal or near-normal coloration. The lack of pigment in the eyes causes various vision problems including reduced visual acuity,nystagmus (involuntary back-and-forth movement of the eyes), strabismus (crossed eyes or "lazy" eye), and sensitivity to bright light. Hermansky-Pudlak Syndrome (HPS) is a type of albinism which includes a bleeding tendency, colitis, lung disease, and kidney disease. Ocular Albinism - NOAH - The National Organization for Albinism and Hypopigmentation Ocular Albinism - AAPOS - American Association for Pediatric Ophthalmology and Strabismus Oculocutaneous Albinism - Hermansky-Pudlak Syndrome - NOAH - The National Organization for Albinism and Hypopigmentation Hermansky-Pudlak Syndrome Network Inc.
LU:research - Lund University Institutional Archive Ophthalmic genetics 2001; 2 107115. Eksandh L, Kohl S, Wissinger B. Clinical featuresof achromatopsia in Swedish patients with defined genotypes. Submitted. http://eprints.lub.lu.se/archive/00009528/
Extractions: About Eksandh, Louise UNSPECIFIED Thesis or Dissertation Clinical expressions of juvenile hereditary retinal degenerations and macular dystrophies - Electrophysiological and genetic studies Phenotype, Genotype, Full-field ERG, EOG, Multifocal-ERG, Best disease, Spielmeyer-Vogt disease, Juvenile X-linked retinoschisis, Stargardt disease, Rod-monochromacy Hereditary retinal degenerations are the most frequent reason for severe visual handicap among young people in Scandinavia today. In the six papers included in this thesis the phenotypic expressions, with emphasis on the electrophysiological findings, of five different juvenile hereditary retinal degenerations are described. The diagnoses have been confirmed by genetic analysis. The retinal disorders presented are all caused by mutations in genes identified during the last six years. UNSPECIFIED link UNSPECIFIED No Faculty of Medicine Department of Ophtalmology UNSPECIFIED UNSPECIFIED
Ophthalmology (Eye Diseases) Intensive Care Medicine Endocrinology ENT (Ear, Nose Throat Diseases) Gastroenterology Hepatology Human genetics Health Care achromatopsia Network. http://www.medlina.com/ophthalmology.htm
Corneal Dystrophies Advances in The Molecular genetics of Corneal Dystrophies Information about keratoconus,including FAQs Home Up achromatopsia Adie's Syndrome http://www.health-nexus.com/corneal_dystrophies.htm
Extractions: Health-Nexus.Net Health-Nexus.Org The #1 Health information site Search Health-Nexus for: Match ALL words Match ANY word Email this page to a friend ! Post a question or comment on our Message Board Home Page Health Specialties Health News ... Alternative Health Options Substance Abuse Animal Health Search: Books Magazines Video Keywords: Find it Here Corneal Dystrophies Corneal Dystrophies, Hereditary Macular Corneal Dystrophies Research at the Duke Center for Human Genetics - Gives general description of macular corneal dystrophies and results of research by Duke Center for Human Genetics. Corneal Dystrophy factsheet - The globe of the eye is made of five layers and the cornea is the transparent front portion. It is also the most sensitive structure in the body because of the density of nerves.
Extractions: MSActiveSource - Click Here Professional Organizations and Meetings Table of Contents of This Section World Wide Web sites of basic and clinical neuroscience professional organizations and of basic and clinical neuroscience meetings are included in the pages of this section. Organizations and meetings for neuroscientists, medical professionals, other health care professionals, patients, and their families are listed. Professional Organizations Disease Information and Support Achromatopsia Network Acoustic Neuroma Association Acoustic Neuroma Association (includes meeting information, support groups, contact information, and links) Action on Disability within Ethnic Communities (ADEC - represents the rights and needs of people of non-English speaking background with a disability and their careers by providing advocacy, information, referral, education, and training) ... Young Adults With Narcolepsy To Table of Contents of This Page To the Top of This Page Neurosciences on the Internet http://www.neuroguide.com/
MCDB 3280 - Class Presentation Links Kohl et al. (2002) Mutations in the cone photoreceptor Gprotein alpha-subunitgene GNAT2 in patients with achromatopsia. Am. J. Human genetics. 71422-25. http://mcdb.colorado.edu/courses/3280/lectures/class09-1.html
Extractions: opens in a new window. file - 17MB g-protein cascade movie protein kinase movie Review of the Basic Schema G-Protein Coupled Receptors -GPCRs The GPCR superfamily of related receptors make up 1-3% of a typical mammalian genome. The generic GPCR has an extracellular binding region, 7 transmembrane helices and an intracellular binding region. Rhodopsin, the photopigment of retinal rods, is the first (and as of October 2002 the only) completely solved GPCR high-resolution crystal structure. Here is a representation of its actual geometry in the membrane Rhodopsin is unique because its agonist, 11-cis retinal, is actually bound to it in an inactive state shown in red above, and isomerizes to the active all-trans configuration upon absorbing a photon. More about this in a later lecture. The rhodopsin structure has already been used to model parts of other GPCRs, such as the muscarinic acetylcholine receptor. The next figure shows how binding of acetylcholine to the extracellular face of the receptor causes a configuration change. In the unbound state on the left the amino acids in green and in blue (spacefill) associate via weak bonds to hold the helices in a closed configuration. Note how binding of acetylcholine (CPK colors) disrupts the weak bonds and brings about movement of the helices.
Articles Vision And Eyes 2000 - 2003 announcing the finding of the gene, which appears in the July issue of the journalNature genetics. Total colorblindness is called complete achromatopsia. http://www.crystalinks.com/healtheyes.html
Extractions: The Human Eye Can Self-correct Some Optical Faults Sceince daily - February 2003 Researchers report finding genetic mutation linked to cataracts June 2002 - Nando News Newborns Know How to Make Eye Contact June 2002 - Yahoo Futuristic System Brings Vision To Blind Artificial Eye Device - Science Daily June 2002 Eye drops delay glaucoma Eye drops used to treat glaucoma can significantly delay - and possibly stop - the disease developing in the first place, according to a new US study. Look in the eye reveals internal bleeding Blindsight Can Be Better Than Real Sight Primitive visual pathway that controls behavior without conscious vision New Guidelines on Who Should Get Laser Eye Surgery June 2002 - Reuters Bionic Retina Gives 6 Patients Partial Sight May 2002 - Reuters Frogs and humans see eye to eye April 2002 - ABC News - A Japanese embryologist has grown and successfully transplanted artificial frogs' eyes using a type of stem cell. Correcting Vision April 2002 - New Scientist FDA approves new surgery option for farsightedness April 2002 - Nando News Magnetic fluid 'could save sight' April 2002 - BBC 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.
Extractions: TYPHLOFIL Un clin d'oeil vers : Internet au service des non-voyants Le Typhlophile L'Info-Doc Le sommaire ... Les thèmes de l'Institut Nazareth et Louis-Braille avec la collaboration de l'École Jacques-Ouellette Consultation importante : Unification internationale du braille français. ... Écrivez-moi! Rechercher dans le site LaCriée Mots-clés: Trouver: Chaque mot Tous les mots L'expression Aide à la recherche Pour consulter le numéro précédent A B C ... V A Fleury, Yves. "Consultation RAAQ-RAAMM-livre adapté". Info-RAAQ. Vol. 18, n o 1 (janv./févr. 1996). p. 4-9. LC-23 L-4092 Inform '92 (1992 : Birmingham, U.K.) Meeting the information needs of disabled people in Europe. [London, England] : Department of Health; [s.l.] : United Kingdom's Presidency of the European Community, 1992. 153 p. ou 141 p. (gros caractères) ou 2 cassettes sonores : 2 pistes. Moreau, Pierre. "Les outils de communication : handicaps visuels et outils de communication". Réadaptation. N
Faculty Of 1000 | About Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification ofa Detection and integration of genotyping errors in statistical genetics. http://www.facultyof1000.com/about/biography/976971242279359
InScight - 27 June 2000 Colorblindness Gene Found In Pacific trees, one of these survivors carried a recessive gene for achromatopsia, whichalso a gene called CNGA3, they report in the July issue of Nature genetics. http://www.academicpress.com/inscight/06262000/grapha.htm
The FHCRC Dog Genome Project: References Human Molecular genetics Paper Additional Information. Canine CNGB3 mutations establishcone degeneration as orthologous to the human achromatopsia locus ACHM3 http://www.fhcrc.org/science/dog_genome/References/loweref.html
Extractions: DGP Home Markers Linkage Map Hybrids ... Links Human Molecular Genetics Paper: Additional Information Sidjanin DJ, Lowe JK, McElwee JL, Milne BS, Phippen TM, Sargan DR, Aguirre GD, Acland GM, Ostrander EA (2002) Canine CNGB3 mutations establish cone degeneration as orthologous to the human achromatopsia locus ACHM3. Hum Mol Genet Abstract Sequence Alignment Methods Tables Prepared by:
Journal Articles: 1999 BL, AA Salam, SM Leal , Karayiorgou M (1999), Homozygosity mapping of the achromatopsialocus in the Pingelapese , American Journal of Human genetics , 641679 http://linkage.rockefeller.edu/pub/1999.html
Achromatopsia; Treatment, Prevention, Cure achromatopsia Search here for information which may include treatment, diagnosis,prevention, support groups, email lists, messageboards, personal stories http://www.healthlinkusa.com/content/2.html
