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
Extractions: Health Funding News Laboratories ... Health Information 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. American Academy of Ophthalmology
Extractions: 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.
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 - Lifestyle Parenting Pregnancy Diet Nutrition Family genetics. nord Achondroplasianord Achondroplastic Dwarfism nord achromatopsia shc achromatopsia http://my.webmd.com/content/healthwise/106/26476.htm
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
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
Extractions: 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 achromats 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 ones children if each parent has this recessive gene. The name for the actual gene is CNGA3.
Menü · Start Page. What is achromatopsia? · Retina · genetics · Diagnose· Therapy. Seeing with achromatopsia · Colours · Nystagmus http://www.achromatopsie.nl/en/menu.html
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
Extractions: 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
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
Extractions: 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.
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
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
Publikationen -- Publications: U. Kellner genetics of retinal photoreceptorcGMP gated channel are responsible for achromatopsia (ACHM3) linked to http://retinadiagnostic.de/publikationen1.html
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
Extractions: 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.
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
Extractions: 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
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
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
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
Extractions: 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.
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
Extractions: Original Articles Monographs Survey Articles Abstracts ... Admin Mode 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
COS Expertise Profile Canine CNGB3 mutations establish cone degeneration as orthologous tothe human achromatopsia locus ACHM3. Human Molecular genetics. http://myprofile.cos.com/ostrander1
Extractions: 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.
