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1. Name of disease state (or trait)

1. Strabismus

2. Gene or chromosome change that causes disease state (or trait)

1. Mutation on the WRB gene on chromosome 21

3. Signs and symptoms of the disease state/trait.

1. Crossed eyes, which can manifest in multiple forms:

1. Esotropia: inward turning.

2. Exotropia: outward turning.

3. Hypertropia: upward turning.

4. Hypotropia: downward turning.

4. Incidence or prevalence of the disease state in a population of your choosing.

1. 29% of those with down syndrome suffer from strabismus

5. How the aberration/mutation causes the disease state (molecular mechanism if available).

1. Unknown

6. Is the disease state treatable?  Explain if so.

1. Yes, there are a wide range of treatments, which are usually more effective if done earlier in life. Treatments range from corrective lenses, to vision therapy, to corrective surgery.

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1. Name of disease state (or trait)

1. Strabismus

2. Gene or chromosome change that causes disease state (or trait)

1. In cases of Duane Syndrome that affect ocular function, there exists mutations in CDH2 gene on chromosome 18.

3. Signs and symptoms of the disease state/trait.

1. Inhibition of eye movement ability. Different cases can result in different types of movement dysfunction(which direction the eye is unable to move)

4. Incidence or prevalence of the disease state in a population of your choosing.

1. 1-5% of people with strabismus have Duane Syndrome

5. How the aberration/mutation causes the disease state (molecular mechanism if available).

1. The mutations lead to a failure in cell adhesion, which leads to improper development of cranial nerve VI, which is responsible for some important eye movements.

6. Is the disease state treatable?  Explain if so.

1. Duane syndrome is not curable, but surgery and therapeutic exercises can help to lessen the effects of Duane syndrome in ocular function.

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NARP(Neuropathy, ataxia, and retinitis pigmentosa) Syndrome

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NARP(Neuropathy, ataxia, and retinitis pigmentosa) Syndrome

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1. Name of disease state (or trait)

1. Retinitis pigmentosa

2. Gene or chromosome change that causes disease state (or trait)

1. mt-ATP 6 gene, which normally forms ATP-synthase. This affects the mitochondria's ability to produce ATP. The mechanism connecting this issue to vision and retinitis pigmentosa is not known.

3. Signs and symptoms of the disease state/trait.

1. Loss of night vision, blind spots, and progressively worse overall vision over time.

2. Individuals with NARP lose their ability of sight , as the retina and other structures are unable to function properly, due to a lack of usable energy(ATP)

4. Incidence or prevalence of the disease state in a population of your choosing.

1. 1 in 12000 humans(estimated) are affected by NARP

5. How the aberration/mutation causes the disease state (molecular mechanism if available).

1. Unknown

6. Is the disease state treatable?  Explain if so.

1. There is not a cure for NARP, but symptoms can be treated. Acetazolamide is one drug that can slow the effects of retinitis pigmentosa. Some vitamins and minerals have shown promise in being helpful to slow vision deterioration as well.

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1. Name of disease state (or trait)

1. Color blindness(3 types)

2. Gene or chromosome change that causes disease state (or trait)

1. OPN1LW(Red/green), OPN1MW(Blue/yellow), and OPN1SW(blue cone monochromacy) genes are changed for each type of color blindness. These genes code for different types of cones in the retina, which detect different colored light(different wavelengths) and are responsible for our ability to see in colors. When one of these is mutated, the wavelengths of light that the cones they code for are supposed to detect cannot be properly interpreted by the optic nerves in the retina.

3. Signs and symptoms of the disease state/trait.

1. Individuals who have affected OPN1LW genes experience red/green color-blindness.

2. Individuals who have affected OPN1MW genes experience blue/yellow color-blindness.

3. Individuals who have affected OPN1SW genes experience blue cone monochromacy color-blindness. This type of color-blindness

4. Incidence or prevalence of the disease state in a population of your choosing.

1. About 8% of men and 1 in every 200 women are affected by a type of color blindness

5. How the aberration/mutation causes the disease state (molecular mechanism if available).

1. The genes with aberrations are responsible for the creation of cones in the retina that are sensitive to certain frequencies of light(different colors). When certain genes are affected, the cones that they are supposed to code for are also affected, and the light that those cones detect cannot be properly detected by the individual.

2. There is only one red pigment gene(OPN1LW), so an issue on it automatically causes red /green color blindness.

6. Is the disease state treatable?  Explain if so.

1. There is no cure, but there are corrective lenses that can help people to see colors that they normally wouldn't with their abnormality

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All 4 of the genetic disorders that I chose share the fact that they affect the way the affected individual can see. Down Syndrome and Duane Syndrome affect the movement and musculature around the eye, while NARP and color blindness affect quality of vision. Whether it is structural or neurological, the genes affected in all four of these disorders are important to the way an individual can see.