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I am doing a report on Color Blindness and have to find someone who is doing research on the disease. If somebody could answer a few questions that would be great. 1.What research are you currently doing for the disease?
2.Has the reasearch been helpful in finding a possible cure or gaining a better understanding of the disease?
3. How is the research being funded?
4. Are there any future prospects for finding a cure for Color Blindness?
Thank you very much for your time.
Question Date: 2005-03-12
Answer 1:

I'll try to answer the questions regarding color blindness. Hopefully,there is some useful information embedded in here somewhere:

I suppose it would be best to start with some background information. As you likely know, the process of seeing begins when specialized cells in the retina called photoreceptors absorb light energy and change that light energy into neural signals. Also, you probably know that there are two basic types of photoreceptors (rods and cones) and that cones are responsible for color vision.

In order to have normal human color vision a person must have 3 different cone types each maximally sensitive to light of different wavelengths (there are other requirements as well...the visual system must be wired in such a way that signals from these different cone types can be compared).

There is one cone type maximally sensitive to short wavelengths (light you see as blue), one maximally sensitive to medium wavelengths(light you see as green), and one maximally sensitive to long wavelengths(light you see as red). Because normal humans have 3 different cone types they are referred to as trichromats. The visual system compares signals originating from these different cone types in order to bring about the perception of color.

Within the cones are special molecules called a photopigments. It is these photopigments within the cones that are the elements that actually absorb the light. A component of the photopigment called the opsin is a protein made by the cone photoreceptor. The opsin controls the tuning of the photopigment molecule, that is, it controls the wavelengths to which the photopigment (and therefore, the cone) will be maximally sensitive.

So, there are 3 different cone opsins, each cone expresses just one of the opsin types, and that opsin determines whether the cone will be maximally sensitive to short, medium or long wavelengths

Production of the opsins is genetically controlled. That is, there are genes for each of the 3 cone opsins. The gene for the short wavelength sensitive cone opsin is autosomal (it is located on chromosome 7). The genes for both the medium wavelength sensitive and long wavelength sensitive cone opsin are on the x chromosome. That means that normally everyone has 2 copies of the short wavelength opsin gene (one paternal copy and one maternal copy). However, because the other 2 opsin genes are on the x chromosome, females have two copies of each (they have 2 x chromosomes...one paternal and one maternal) but males have just a single copy of each gene (they have a single x chromosome from mom).

Most cases of "color blindness" result when a person has only two cone types. For reasons I'll describe below such are person is more accurately described as "color defective." The most common reason a person has only 2 cone types is that there is a defect in one of the cone opsin genes. For example, if a guy has normal short and medium wavelength sensitive opsin genes and a defective long wavelength sensitive opsin gene, they will have just two cone types. Such a person will be red-green color blind and because they have just two cone types are referred to as dichromats. Obviously, there can be three different types of dichromats depending on which gene is defective.

If the short wavelength sensitive opsin is missing, the person is referred to as atritanope, if the medium wavelength opsin is missing, the person is referred to as a deuteronope, and if the long wavelength opsin is missing, the person is referred to as a protanope.

Because of the genetics of the opsins (as I described in the previous paragraph),protanopia and deuteronopia are far more common than tritanopia and they are far more common in males than females. This is because if in a male the single copy of either the medium or long wavelength sensitive opsin is defective, the person will lack one of the opsin types and so be color defective (or color blind if you prefer). If one copy of the gene is defective in a female, she will have another copy(originating on the other x chromosome) and so will have normal color vision.

In order for a female to be aprotonope or deuteronope, she must have 2 defective copies of either the long wavelength sensitive or medium wavelength sensitive opsin,respectively. Likewise, in order for a male or female to be a tritanope, they must have two defective short wavelength sensitive opsin genes. That explains why it is rare to find a female who is color blind and equally rare to find someone who is a tritanope.

Deuteronopes and protonopes are both considered red-green color blind because they will confuse these colors. Tritanopes are unable to discriminate blue colors from yellow colors and so are considered blue-yellow color blind. However, all dichromats can still discriminate some colors. They just aren't as good as a normal trichromatic human. This is why its probably better to refer to dichromats as "colordefective."

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