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Olivia Eberle December 2, 2009

ROUGH DRAFT Human Genetics Paper

Retinitis-Pigmentosa is a rare disease that affects around 100,000 in the United States. It is also

known as RP. Retinitis-Pigmentosa is a genetic disorder that affects the rods and cones of the retina,

which are also known as photoreceptors. Some early signs of RP occur in early childhood. The early

symptoms are loss of vision on low light. This doesnt really affect the person in any severe way. As

the disease progresses, the victim starts to loose peripheral vision and their central vision starts to get

blurry (this starts to happen around age 25.) When the person reaches age 45-50, they are subject to

gunshot vision, which is just like tunnel vision, but more severe. This step of the disease only occurs in

about 30% of all cases. And complete blindness occurs in about 20% of cases. My dad, who suffers

from RP, is 47 and he has one of the more severe cases. He is at the stage in the disease where his

vision transformed to gunshot vision. Also, his eyes sometimes switch off without notice, and he

becomes completely blind. This doesnt happen in most cases, and we still dont know why this

happens. It is also considered a sex-linked gene malfunction, and is more commonly found in males.

When the disease affects females, their only problem is the moderate loss of vision, and their treatment

is the use of contacts or glasses.

Retinitis-Pigemtosa is a genetic disorder that no one really knows about. Doctors arent sure

what causes the disease, and they are trying to develop a cure. Gene therapy is being researched too

see what causes the gene malfunction and if there is any way that it can be cured. Although there is no

cure, some ophthalmologists suggest that wearing sunglasses can slow the progression of RP by 10

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years. Another suggestion is the use of vitamin A-palimate taken in high doses. Some physical

symptoms of RP are dark spots or lines on the retina that can be found if a picture is taken of the retina.

Retinitis-Pigmentosa affects a persons life greatly. Vision is used everyday in a normal

persons life, and when a person cant use their vision, they cant do anything a normal person does

everyday. For example, my dad cant drive because he is considered legally blind. He also cant read

or play card games. For his profession, he is a lawyer and he has a very hard time doing his job. He is

very good at his profession, but Retinitis-Pigmentosa holds him back greatly.

Along with all of these serious facts, some interesting ones come with. Retinitis-Pigementosa

only occurs in humans, but a very similar disease, known as retinal atrophy, is found in dogs.