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Achromatopsia: more detail

My Blindy Girl - A Mother's Journey Through Achromatopsia by Ellen Tomaszewski, 2009

Achromatopsia: A Medical Dictionary, Bibliography, And Annotated Research Guide To Internet References by Icon Health Publications, 2004-08-20

My Blindy Girl - A Mother's Journey Through Achromatopsia by Ellen Tomaszewski, 2008

My Blindy Girl - a mother's journey through achromatopsia by Ellen Tomaszewski, 2010-01-17

Visual Disturbances and Blindness: Color Blindness, Alice Walker, Macular Degeneration, Achromatopsia, Akinetopsia, Low Vision, Amblyopia

Understanding and coping with achromatopsia by Frances Futterman, 1998

Achromatopsia

lists with details

Dictionary Of Difficult Words - Achromatopsia,
INDEX A B C D E F G H I J K L M N O P Q R S T U V W X Y Z. DIFFICULT WORDS. achromatopsia,.n. colourblindness, where only white, grey and black are visible.
http://www.tiscali.co.uk/reference/dictionaries/difficultwords/data/d0000166.htm
Achromatopsia
achromatopsia. Inability to perceive color color knowledge and colornaming can be intact. acquired after cortical brain damage.
http://www.umich.edu/~psycours/345/lecture5/tsld008.htm
ACHROMATOPSIA (Search FastHealth.com) ACHROMATOPSIA
Terms of Use Email This! achro·ma·top·sia n a visual defect markedby total color blindness in which the colors of the spectrum
http://www.fasthealth.com/dictionary/a/achromatopsia.php
ACHROMATOPSIA (Search FastHealth.com) ACHROMATOPSIA
Dictionary FastHealth Email This! achro·ma·top·sia n a visualdefect marked by total color blindness in which the colors of
http://www.fasthealth.com/affiliates/h_jh_al/dictionary/a/achromatopsia.php
Medical Experts - Achromatopsia
ASSOCIATIONS. Bar Associations Legal Associations Law Firms Attorneys.Medical Experts achromatopsia. AMFS, Inc. (American Medical Forensics).
http://www.hg.org/experts/Medical-Experts-Achromatopsia.html

Extractions: AMFS is recognized as a leader in the field of medical-legal case review and expert witness testimony. Since 1990 in more than 35,000 medical-legal cases for plaintiff and defendant, AMFS experts have consistently delivered. AMFS is the only medical forensic consulting group staffed exclusively by board-certified in-house physicians.
1Up Health > Health Links Directory > Conditions And Diseases: Eye Disorders: Co
Sites. achromatopsia Psychological and physical perceptions highlightedwith references. The achromatopsia Group Internet resource
http://www.1uphealth.com/links/color-blindness-achromatopsia.html

Extractions: The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only they do not constitute endorsements of those other sites.
Zeal.com - United States - New - Personal - Health - Conditions & Illnesses - Ge
A great resource for United States New - Personal - Health - Conditions Illnesses- Genetic Disorders - Conditions AZ - Conditions A - achromatopsia.
http://www.zeal.com/category/preview.jhtml?cid=527363
Shore Family Eyecare Treats Low Vision, Glacoma,strabismus And More.
Visual Conditions Shore Family Eyecare Treats achromatopsia achromatopsiais the abnormality or absence of retinal cones. There
http://www.lowvision-nj.com/diseaseMain.html

Extractions: Achromatopsia is the abnormality or absence of retinal cones. There is a complete and incomplete form. Achromatopsia is a rare hereditary vision disorder which affects 1 person in 33,000 in the U.S. Someone with achromatopsia has little or no cone cell function in the retinas of their eyes. Cone cells permit color vision, perception of fine detail, and the ability to adapt to all higher levels of illumination. Cones provide "day vision." Signs and symptoms: Vision is worse in bright light. Eye function is markedly better in reduced illumination. Characteristics: visual acuity about 20/200 in complete form. Basically normal retina, or definite macular abnormality. Nystagmus is present. Total lack of color discrimination is pathognomonic. The cone ERG is absent as is the first portion of the scotopic red response in both the complete and incomplete forms. In children wiht poor acuity, nystagmus,, and a normal fundus, who are too young to treat, the ERG assumes a major role in differential diagnosis. In the incomplete forms of congenital cone blindness, the acuity range is better (20/40 to 20/100); there may be misleading and may be diagnosed as macular degeneration or ocular albinism. In these cases, the ERG is essential for confirming the diagnosis. Field: Normal Prognosis: nonprogressive. Vision remains relatively good in subdued light. Nystagmus and photophobia improves with age.
Applied Biosystems - BioBeat - Linkage Reported For Total Color Blindness In The
Prion imageSignificant evidence of genetic linkage has been reported betweentotal color blindness (achromatopsia) and a region of chromosome 8 in the
http://www.appliedbiosystems.com/biobeat/pgp/

Extractions: Products MSDS Store BioBeat Subscribe Contact Breakthroughs ... Awards Linkage Reported for Total Color Blindness in the Pingelapese by Michael D. O'Neill Significant evidence of genetic linkage has been reported between total color blindness ( achromatopsia ) and a region of chromosome 8 in the Pingelapese people of the South Pacific. This result was described by researchers from Rockefeller University who conducted a genome-wide linkage study for 61 individuals in three Pingelapese families. The clinical symptoms of achromatopsia include the complete inability to distinguish colors, impaired visual acuity in daylight, photophobia, nystagmus (jerking movements of the eye), and gradually developing cataracts. Affected individuals squint and have severe difficulty seeing in daylight. Their visual acuity is generally 1/10 or less that of normal individuals. The disease is associated with the absence or malfunction of the retinal cones, the special sensory cells responsible for normal trichromatic color vision. The cones are located in the fovea, the central region of the retina, and are specialized for sensing fine detail as well as color. Without functioning cones, individuals with achromatopsia also have difficulty holding their gaze steady (fixating), particularly in bright light, and their eyes make searching, jerky movements (nystagmus). 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. In the Pingelapese, however, a population of roughly 1,000 individuals inhabiting the tiny atoll of Pingelap in the Eastern Caroline Islands (
Achromatopsia
achromatopsia by Josh Kaitz and Stephen Rakusin. achromatopsia, a rare hereditarydisorder, occurs in about one out of every thirtythree thousand Americans.
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.
VISION IN A COMPLETE ACHROMAT
is my hope, though, that my account will give both vision scientists and the generalreader a glimpse, not only into the manifestations of achromatopsia and rod
http://www.u.arizona.edu/~chalmers/misc/achromat.html

Extractions: A PERSONAL ACCOUNT By: Knut Nordby INTRODUCTION Being myself a vision scientist who is also a complete achromat, I have, upon demand from friends and collaborators, taken on the task of trying to convey some of my visual experiences and to explain how I cope with my visual handicap. I rely on recollections, both my own and those of my family, and try to separate information that can be documented or is supported by other sources from the mere anecdotal. I also draw on information from interviews with other achromats, but only to supplement or comment on my personal experiences. My recollections may have become distorted over time, they may not be precise and may also be biased - and they may not, in all cases, apply to other achromats. It is my hope, though, that my account will give both vision scientists and the general reader a glimpse, not only into the manifestations of achromatopsia and rod-vision - topics usually not covered by the learned papers - but also into the practical problems and obstacles encountered by a completely colour-blind person. A SHORT BIOGRAPHY Infancy.
Improv - Redrum, Kidnapped, Achromatopsia, Molasses, Neurological
redrum, kidnapped, achromatopsia, molasses, neurological by Rachel So on accountof my achromatopsia they wouldn't let me into the police academy.
http://mediageek.ca/mprov/rachel36.html

Extractions: JC managed to unlock the door, his vision starting to fade as he struggled to stay awake. He was so happy to be home finally and so unhappy at the same time. He didn't want to see what kind of condition Joey was in. The apartment was pitch black, but he could hear the TV on in the back room. He felt along the wall until he found the light switch, flooding the room in brightness. His jaw dropped and his bag slipped to the floor. The apartment was trashed. The bookshelf was pushed over, the kitchen was trashed. The chairs were thrown around. JC closed his eyes, pinching the bridge of his nose and trying to breathe slowly. This wasn't happening again. Joey was okay. When he opened his eyes, the apartment was going to be neat and tidy. JC opened one eye and sighed. This really was happening. He'd been awake for almost 52 hours now. He was not in the right frame of mind to deal with Joey at the moment. JC picked his way through the living room, careful not to step on anything. He headed for the back room where the TV was. The lights were off in there as well, but the TV was on. JC flipped the lights on and walked over to the couch, shaking Joey angrily. He didn't budge, just lying there like a limp rag as JC shook him. "Fuck." JC muttered. He picked up the remote and turned off the TV, cutting off the freaky kid from 'The Shining' while he was intoning the words 'redrum' yet again.
Directory :: Look.com
achromatopsia (5) Sites. achromatopsia Psychological and physical perceptionshighlighted with references. Incomplete and Complete
http://www.look.com/searchroute/directorysearch.asp?p=5819365
Support Groups And Information On Eye Disorders
A few such groups are The achromatopsia Network. Resources concerning.achromatopsia and related eye disorders which result in extreme light.
http://www.eyeinfo.org/support.html

Extractions: INDEX Back to Coping Home Page Free Vision Screening Support Groups and Information on Eye Disorders Many groups provide general or specific advice on eye problems, support and, sometimes, advocacy. A few such groups are: Resources for Managing with Limited Vision P.O. Box 214, Berkeley, CA 94701-0214 Telephone: 1(510) 540-4700 Web Site: www.achromat.org Information, support network, and monthly newsletter concerning achromatopsia and related eye disorders which result in extreme light sensitivity, colorblindness, and reduced vision. Your Path P. O. Box 754, Berkeley, CA 94701 946 Irving St., San Francisco, CA 94122 Telephone: 1(510) 540-0775 1(415) 648-0775 E-mail: katrineh@jps.net Assistance in making changes and adjustments with vision loss. Group and individual consultation. P.O. Box 7424, San Francisco, CA 94120-7424 Telephone: 1(415) 561-8500 Fax: 1(415) 561-8575 E-mail: comm@aao.org (See below for services.) P.O. Box 429098, San Francisco, CA 94142-9098 Telephone: 1(415) 561-8500 Fax: 1(415) 561-8567 Free information and literature on eye conditions; co-sponsors of
Listings Of The World Health Conditions And Diseases Eye
Listings World Health Conditions and Diseases Eye Disorders Color Blindnessachromatopsia. Sites with good content related to achromatopsia.
http://listingsworld.com/Health/Conditions_and_Diseases/Eye_Disorders/Color_Blin
Color Blindness
color blindness Alternative Names dyschromatopsia, achromatopsia, color vision deficiencyDefinition Color blindness ranges from the inability to distinguish
http://atoz.iqhealth.com/HealthAnswers/encyclopedia/HTMLfiles/2367.html
Colour Vision Defects
Designed to inform people about colour blindness, and is focused on how a person with colour blindness Category Health Conditions and Diseases Color Blindness Physiological factors that affect colour vision More on colour vision impairmentsand careers Do you see what I see? achromatopsia Network.
http://www.geocities.com/HotSprings/8018/
WebGuest - Open Directory : Health : Conditions And Diseases : Eye Disorders : C
Sites The achromatopsia Group Internet resource center, support group,and discussion forum for people affected by the rare vision disorder.
http://directory.webguest.com/index.cgi/Health/Conditions_and_Diseases/Eye_Disor
Achromatopsia Network Newsletter
Home Magazine Reviews achromatopsia Network Newsletter. achromatopsiaNetwork Newsletter. Name achromatopsia Network Newsletter
http://magazine.reviewindex.com/reviews/B00006K1IX.html

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Volume 113 January - December 1990
A century of cerebral achromatopsia. S . Zeki. Pages 1721 1778. Part of theOUP Brain WWW service. General Information. Click here to register with OUP.
http://www3.oup.co.uk/jnls/supplements/braini/hdb/Volume_113/Issue_06/1131721.sg

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