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         Achromatopsia:     more detail
  1. My Blindy Girl - A Mother's Journey Through Achromatopsia by Ellen Tomaszewski, 2009
  2. Achromatopsia: A Medical Dictionary, Bibliography, And Annotated Research Guide To Internet References by Icon Health Publications, 2004-08-20
  3. My Blindy Girl - A Mother's Journey Through Achromatopsia by Ellen Tomaszewski, 2008
  4. My Blindy Girl - a mother's journey through achromatopsia by Ellen Tomaszewski, 2010-01-17
  5. Visual Disturbances and Blindness: Color Blindness, Alice Walker, Macular Degeneration, Achromatopsia, Akinetopsia, Low Vision, Amblyopia
  6. Understanding and coping with achromatopsia by Frances Futterman, 1998
  7. Achromatopsia

1. THE ACHROMATOPSIA NETWORK
A network for individuals and families affected by the vision disorderachromatopsia (sometimes called achromatopia), including rod monochromacy and blue
http://www.achromat.org/
THE ACHROMATOPSIA NETWORK
An information network for individuals and families who are affected by achromatopsia and for professionals interested in achromatopsia
Welcome to the Home Page of
The Achromatopsia Network The purpose of this website is to provide information about achromatopsia and about the publications that are available pertaining to this rare vision disorder.
Table of Contents

Pages last April 30, 2005

2. The Achromatopsia Group
Internet resource center, support group, and discussion forum for people affected by the rare vision disorder.
http://www.achromatopsia.org/
The Achromatopsia Group
Internet Resource Center
Discussion Forum Welcome to the recently formed consolidated internet resource center , support group, and discussion forum rod monochromacy, which affects approximately 8,500 persons in the United States (about 1 in 33,000). Typical symptoms of achromatopsia include photophobia (hypersensitivity to light), color blindness, poor visual acuity, and nystagmus (wobbly eyes). This is a result of few or no cone photoreceptor cells in the retina. People with achromatopsia depend on their rod photoreceptor cells which do not provide color or detail vision, and become saturated by light. Coping with hypersensitivity to light is a major issue. Our Mission and Goals
Go To 'Achromatopsia Group' Discussion Forum

Go To Achromatopsia Internet Resource Center
For more information, email info@achromatopsia.org Last Updated 27 October 2001

3. Incomplete And Complete Achromatopsia
Describes the differences between the conditions and its significance.
http://serendip.brynmawr.edu/bb/neuro/neuro98/202s98-paper2/DeCastro2.html
This paper reflects the research and thoughts of a student at the time the paper was written for a course at Bryn Mawr College. Like other materials on Serendip , it is not intended to be "authoritative" but rather to help others further develop their own explorations. Web links were active as of the time the paper was posted but are not updated Contribute Thoughts Search Serendip for Other Papers Serendip Home Page Biology 202 ...
1998 Second Web Reports

On Serendip
Incomplete and Complete Achromatopsia
Elaine de Castro
The human eye requires both rods and cones for normal vision. Over 100 million rods are located in the periphery of the human eye, and about 6 million cones compose the fovea. Rods, the more sensitive of the two to light, are not able to differentiate wavelengths, thus cannot detect color, and perceive shades of grey, black, and white. Cones, on the other hand, are of three types, containing particular pigments. They are categorized as red, blue, and green depending on to which wavelength they are most sensitive. These cones are what render color vision to humans. Red-green color blindness is not uncommon in the general population. The unequal crossover in the X-chromosome which causes this disorder is much more easily achieved than the mechanisms which cause other types of color blindness, due to the proximity of the two pigment genes. Five to eight percent of men are affected with this genetic condition, and due to a lacking pigment, have trouble distinguishing between red, green and brown.

4. THE ACHROMATOPSIA NETWORK
A network for individuals and families affected by the vision disorder achromatopsia (sometimes called achromatopia), including rod monochromacy and
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

5. WHAT IS ACHROMATOPSIA?
Congenital achromatopsia is a rare hereditary vision disorder which affects 1 Persons who have achromatopsia (sometimes called achromatopia) do not have
http://www.achromat.org/what_is_achromatopsia.html
What Is Achromatopsia?
Congenital achromatopsia is a rare hereditary vision disorder which affects 1 person in 33,000 in the U. S. The incidence varies in different parts of the world. Various diagnostic terms have been applied to patients who have congenital achromatopsia. Some of these terms have been applied inaccurately and some of the terms simply demonstrate the fact that the nomenclature in use can vary considerably among different vision care specialists and in different parts of the world. Sometimes a patient with rod monochromacy is diagnosed as having cone dystrophy, because some vision care professionals are accustomed to thinking of all patients who have inherited disorders of the cones as having cone dystrophy. Congenital achromatopsia, however, should never be confused with progressive cone dystrophy or cone/rod dystrophy. Congenital achromatopsia is not progressive, and it does not lead to blindness. Some doctors refer to it as "stationary cone dystrophy." Misdiagnosis is common. As one example, many achromats have been given the diagnosis of "congenital nystagmus." Nystagmus (involuntary movement of the eyes) is a symptom of achromatopsia, one that is especially noticeable during infancy and childhood, but having this symptom is not the same as having the medical eye condition which is known as "congenital nystagmus." As levels of illumination increase, the vision of persons with achromatopsia decreases. In moderately bright indoor spaces or outdoors just after dawn or just before dusk, some achromats adapt to their reduced level of visual functioning without resorting to tinted lenses, by using visual strategies such as blinking, squinting, shielding their eyes, or positioning themselves favorably in relation to light sources. Others routinely wear medium tinted lenses in such settings. However, in full sunlight outdoors or in very bright indoor spaces, almost all achromats use very dark tinted lenses in order to function with a reasonable amount of vision, since their retinas do not possess the photoreceptors needed for seeing well in such settings.

6. WHAT IS ACHROMATOPSIA?
What Is achromatopsia? Congenital achromatopsia is a rare hereditary vision disorder which affects 1 person in 33 000 in the U. S. The
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

7. Achromatopsia And Color Blindness
There are two primary forms, the complete achromatopsia and incomplete achromatopsia.Complete achromatopsia achromatopsia means “without color” and is
http://www.lowvision.org/achromatopsia_and_color_blindnes.htm
Achromatopsia
Understanding Achromatopsia Richard L. Windsor, O.D., F.A.A.O.
Laura K. Windsor, O.D., F.A.A.O.
Published in Vision Enhancement Journal
Achromatopsia is an inherited condition that affects approximately 1 in every 33,000 Americans. It is also known as rod monochromatism. This condition is associated with color blindness, visual acuity loss, extreme light sensitivity and nystagmus. It is a condition found throughout the world with varying incidence. There are two primary forms, the complete achromatopsia and incomplete achromatopsia. C omplete Achromatopsia A chromatopsia means “without color” and is defined as little or no function of the cone cells. Persons with achromatopsia are only able to perceive black, white and shades of gray. Patients with complete achromatopsia have no real understanding of the concept of color. A color like red may be perceived as dark gray while yellow may be perceived as a light gray. The vision is much like that of a black and white photograph with varying shades of gray. Incomplete Achromatopsia atients with incomplete achromatopsia have profound color impairment, but do have a small residual amount of color vision and slightly better visual acuity due to the presence of some functioning cone cells in the retina.

8. The Achromatopsia Group
The achromatopsia Group Internet Resource CenterDiscussion Forum
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

9. Understanding Achromatopsia
Vision specialists explain how this condition is inherited, the different types, and what treatment is available.
http://www.eyeassociates.com/understanding_achromatopsia.htm
Understanding Achromatopsia
Laura K. Windsor, O.D. , F.A.A.O.
Richard L. Windsor, O.D. , F.A.A.O.
P ublished in Vision Enhancement Journal Achromatopsia is an inherited condition that affects approximately 1 in every 33,000 Americans. It is also known as rod monochromatism. This condition is associated with color blindness, visual acuity loss, extreme light sensitivity and nystagmus. It is a condition found throughout the world with varying incidence. There are two primary forms, the complete achromatopsia and incomplete achromatopsia.
Complete Achromatopsia Achromatopsia means “without color” and is defined as little or no function of the cone cells. Persons with achromatopsia are only able to perceive black, white and shades of gray. Patients with complete achromatopsia have no real understanding of the concept of color. A color like red may be perceived as dark gray while yellow may be perceived as a light gray. The vision is much like that of a black and white photograph with varying shades of gray.
Incomplete Achromatopsia Patients with incomplete achromatopsia have profound color impairment, but do have a small residual amount of color vision and slightly better visual acuity due to the presence of some functioning cone cells in the retina.

10. Achromatopsia And Color Blindness
achromatopsia Understanding achromatopsia Richard L. Windsor, O.D., F.A.A.O incomplete achromatopsia. Complete achromatopsia achromatopsia
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

11. Links Page - The Achromatopsia Group
Please email suggested links to webmaster@achromatopsia.org The achromatopsiaNetwork EXCELLENT site containing the most accurate and comprehensive
http://www.achromatopsia.org/links.htm
The Achromatopsia Group
Internet Resource Center
Back to Main Page
Discussion Forum Below are some useful links to various sites
(achromatopsia, related disorders, support organizations, low vision resources, education resources, and research articles)
Please email suggested links to webmaster@achromatopsia.org The Achromatopsia Network - EXCELLENT site containing the most accurate and comprehensive information available on the subject of achromatopsia (e.g. go to " What Is Achromatopsia? "). Offers several superb publications, including Understanding And Coping With Achromatopsia Living With Achromatopsia Complete Colorblindness , and The Island Of The Colorblind (by Oliver Sacks) , as well as The Achromatopsia Network Journal newsletter. This should be the starting point for anyone wanting to learn more about achromatopsia Vision In A Complete Achromat: A Personal Account - By Knut Nordby. An autobiographical description of how an achromat from Norway has coped with achromatopsia. Note: this article is listed with the permission of Knut Nordby.

12. The Low Vision Gateway
Resources for finding low vision information, equipment and services on the Internet.
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

13. Welcome To InteliHealth
The most severe is achromatopsia, a partial or complete lack or The mainsymptom of achromatopsia is extreme sensitivity to light (photophobia).
http://www.intelihealth.com/hope/htmH27index.html
Achromatopsia
Color blindness takes many forms. About one in ten boys and one in 250 girls are born with red-green color blindness, which is usually no more than an annoyance. But color blindness has much more seriousthough much rarerforms. The most severe is achromatopsia, a partial or complete lack or dysfunction of the cone cells. These are the color-sensing cells in the retina in the back of the eye. People with achromatopsia can see little or no color. They also never develop sharp vision; they are especially limited in their ability to see at a distance. Most are legally blind, with visual acuities around 20/200. This inherited disorder affects about 1 person in 33,000. Most patients are diagnosed as children. The main symptom of achromatopsia is extreme sensitivity to light (photophobia). Patients are blinded by the sun when they're outdoors. Some are so sensitive to light that they're uncomfortable even indoors in a normally lit room. The condition is hard to diagnose because the back of the eyes usually look normal when the doctor checks them. The diagnosis is made by the person's symptoms and an electroretinogram, which must be done at a special clinic. While there is no cure, the symptoms can be managed. Patients can control glare by wearing wraparound sunglasses and a broad-brimmed hat. An eye doctor can prescribe tinted contact lenses that cut glare and let patients see more clearly (the young boy in the TV spot got red lenses). Patients may also benefit from low vision rehabilitation, which may also include occupational therapy, orientation and mobility instruction (to learn safe walking and travel skills), social work, genetic counseling, and consultation with a teacher of the visually impaired.

14. Achromatopsia
achromatopsia
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

15. Achromatopsia
achromatopsia. rod monochromacy and blue cone monochromacy. achromatopsia NetworkPO Box 214 Berkeley, CA 947010214 USA E-mail Editor@achromat.org
http://www.kumc.edu/gec/support/achromat.html
Achromatopsia rod monochromacy and blue cone monochromacy
Achromatopsia Network
P.O. Box 214 Berkeley, CA 94701-0214 USA E-mail: Editor@achromat.org (Frances Futterman, network facilitator)
Also See: To locate a genetic counselor or clinical geneticist:
Genetic Societies
Clinical Resources ... Search
Genetics Education Center
Debra Collins, M.S. CGC
, Genetic Counselor, dcollins@kumc.edu
This site subscribes to the principles of the HONcode
(Health on the Net, Code of Conduct for Medical and Health Web Sites)
of the Health On the Net Foundation

16. Encyclopedia - Achromatopsia
Eye Care Library. Encyclopedia achromatopsia. What causes achromatopsia? What are the signs of achromatopsia? How is achromatopsia managed?
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

17. Incomplete And Complete Achromatopsia
Incomplete and Complete achromatopsia
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

18. Achromatopsia
There are two types of achromatopsia, one is congenital and the other can becaused by brain damage, called cerebral achromatopsia (3).
http://serendip.brynmawr.edu/bb/neuro/neuro99/web2/Howard.html
This paper reflects the research and thoughts of a student at the time the paper was written for a course at Bryn Mawr College. Like other materials on Serendip , it is not intended to be "authoritative" but rather to help others further develop their own explorations. Web links were active as of the time the paper was posted but are not updated Contribute Thoughts Search Serendip for Other Papers Serendip Home Page Biology 202 ...
1999 Second Web Reports

On Serendip
Achromatopsia
Marion Howard
When I was young, I was told that "color blindness" did not mean that the person saw the world like an old movie, but rather it meant that they could not distinguish between green and red. I thought that this understanding was very advanced and would quickly share my knowledge with any less-informed children. After looking into the matter, I have been forced to reject this generalization in favor of a broader range of diseases resulting in very different types of inabilities to perceive color in a "normal" fashion. While the typical color blindness I was told about affects 8 percent of men and less than 1 percent of women in the United States , there are many other types. The most common types of color blindness, effecting red and green vision, are not too serious for the sufferers, who can function normally and do not have overly impaired vision other than an inability to distinguish between certain colors. There are, however, more serious forms of "color blindness", such as blue cone monochromatopsia, partial rod monochromatopsia, and total rod monochromatopsia

19. Achromatopsia
Medical Information Document On achromatopsia What we see is made in the brain from signals given to it by the eyes.
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

20. Achromatopsia
Links to information and resources for achromatopsia.
http://rarediseases.about.com/cs/achromatopsia/
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Guide picks Achromatopsia is a rare hereditary vision disorder which results in poor visual acuity (can't see well) and colorblindness.
The Achromatopsia Network

Offers information, support, networking, and book reviews. Colour Vision Defects
Information about color blindness and visual defects. OMIM - Achromatopsia
Genetics division, Online Mendelian Inheritance in Man, of National Institutes of Health provides scientific information about the disorder. Topic Index Email to a Friend
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