Retinitis pigmentosa is a genetic disorder that causes blindness in the people that are affected by it. I chose retinitis pigmentosa because my grandmother has this genetic disorder. The disorder is very costly on those who have it. The disorder has robbed my grandmother of the life she wanted. She is no longer able to do the things she once was. She is legally blind, cannot drive, and has trouble getting around crowded areas. Retinitis pigmentosa was discovered by Doctor Donders in 1857. Retinitis pigmentosa is a very serious disorder in how it occurs, its signs and symptoms, its prevalence, and how its treated.
Retinitis pigmentosa is caused by damage to the retina of the eye. The retina is the light sensitive layer of tissue at the back of the eye. The retina focuses images in the brain and then sends them via electrical signals up to the brain. The retina is a very important part of the eye to help a person see. What is affected in the retina from this disorder are the rods in the eye. The rods allow a person to see in the dark. Retinitis pigmentosa slowly causes the rods in the eye to deteriorate over time. Retinitis pigmentosa also can cause the cones in people’s eyes to deteriorate. If a person’s cones deteriorate first, then the person first develops blindness in the center of their eye and they lose some of their color vision. This form of retinitis pigmentosa is much rarer than the form that deteriorates the rods in the eyes.
Retinitis pigmentosa can be caused in a person in numerous ways. It normally runs in families, however, it can also be caused from a mutation. We believe my grandmother developed the disorder from a genetic mutation, as no one else in my family has ever had the disorder or has developed it as of...
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...al health. Wearing sunglasses to protect your eyes also slows the affects, as sunglasses put less strain on the retinas. Quitting smoking at any point in life can help preserve retinal health. Smoking has been linked to retinal damage. The prognosis for those with retinitis pigmentosa is they will live just as long as a normal person. Early death is not linked to retinitis pigmentosa. The only problems that the person will have are vision problems. Each person has a different experience with retinitis pigmentosa. No one case is like another.
The genetic disorder retinitis pigmentosa is very serious. It is very complex, as it has multiple ways to be inherited. The symptoms are serious and handicap the victims for life. It is very prevalent in society, and there is no treatment. Future research into this debilitating disorder will offer hope to those affected by it.
The widespread involvement of Retinal Pigment Epithelium (RPE), flat (placoid) nature of the lesions and absence of overlying serous retinal detachment and minimal choroidal involvement lead Gass to conclude RPE was primary focus of inflammation.(1) ...
Supposedly, a freak typhoon-like storm ravaged the island in the late eighteenth century and killed a number of the island's inhabitants. Approximately 20 people survived to replenish the isolated island's population. Roughly four generations after the typhoon, the citizens of Pingelap began exhibiting symptoms of a rare recessive disorder known as Achromatopsia. Achromatopsia is characterized by extreme light sensitivity, poor vision, and complete inability to distinguish colors (3). This anomaly is the focus of Oliver Sacks' new book The Island of the Colorblind and its publication has succeeded in raising public awareness about the rare hereditary disease of Achromatopsia. Of the roughly the 3000 people living in Pingelap today, 5% to 10% of them are affected by the disorder and about 30% are carriers (3). All of these people are able to trace their ancestry to a single male typhoon survivor who researchers believe was the carrier of the disease that emerged when some of his descendents intermarried (3).
In the Radiolab episode “Colors,” Adam Cole hosts Jay Neitz, a neurologist and color vision researcher at the University of Washington, to discuss colorblindness in primates and humans. Neitz hypothesizes that the test they used to cure colorblindness in squirrel monkeys could also cure the same disorder in humans. Colorblindness is a genetic disorder that causes the cones in the eye to perceive colors differently. In the back of the eye lies the retina that holds three photoreceptor cells called cones. Each cone is sensitive to either red, green, or blue and when functional, allows the brain to process the different wavelengths of color. Humans and some primates have two genes on the X Chromosome that encodes visual pigments, one holds green
Rett syndrome is a postnatal neurodevelopmental disorder that mainly affects girls but is rarely found in boys as well. Rett syndrome strikes all racial and ethnic groups, and occurs worldwide in 1 of every 10,000 female births. It was first identified by Dr. Andreas Rett, an Austrian physician who described it in an article published in 1966. Even though Rett described the disorder in his 1966 article it went another 17 years until being generally recognized after Swedish researcher Dr. Bengt Hagberg published an article about the disorder in 1983 (Rett Syndrome Fact Sheet).
Xeroderma Pigmentosum is a genetic disorder caused by a mutation in one of any seven genes. This genetic mutation is an autosomal recessive trait. This disease was discovered in 1874 by Hebra and Kaposi. People with this disease cannot have direct exposure to sunlight, or blisters on the skin may occur. There are only about 250 people in the world with this disease.
Ivy is the third generation in her family to be affected by achondroplasia. Her grandfather, her father, and her brother also have it. Achondroplasia is inherited as an autosomal dominant trait whereby only a single copy of the abnormal gene is required to cause achondroplasia. Nobody with the mutated gene can escape having achondroplasia. Many individuals with achondroplasia have normal parents, though. In this case, the genetic disorder would be caused by a de novo gene mutation. De novo gene mutations are associated with advanced paternal age, often defined as over age 35 years. If an individual with achondroplasia produce offspring with a normal individual, the chances of the offspring inheriting the mutant allele achondroplasia is 50%. If both of the parents have achondroplasia, the chances that their offspring will be of normal stature a...
Age related macular degeneration (AMD) is the leading cause of blindness in people over the age of 50. Every ten years after the age of 50 the prevalence of this disease increases exponentially. Many different factors contribute to the development of AMD including genetic, environment, and metabolic functions. Aside from smoking, abnormal blood pressure, and an unhealthy diet low in fruits and vegetables, many more studies are concluding that similar inflammatory and oxidative processes seen in other age related diseases are also playing a key role in the development of AMD. This disease affects the central areas of the retina and choroid. In return central vision is impaired while peripheral vision is usually not lost. AMD is seen in two different forms, the earlier nonneovascular (dry) type and the more advanced neovascular (wet) type. Each form has its own specific pathology and unique characteristics that set them apart. Fatty, protein deposits called drusens may be the key risk factor in understanding dry AMD pathology, progression, and treatment. Once the more advanced wet AMD is diagnosed, pathology and treatment are targeted around the formation and destruction of abnormal blood vessels, characteristic of the wet AMD eye. The increasing prevalence of AMD has influenced more investigation into what factors can be modulated to prevent the onset or to stop the progression of AMD. Early diagnosis is very important because this is when an eye doctor can spot the early signs of the disease through ultrasound or angiography. This text will discuss the pathology of drusens and the role of inflammation and oxidation in the aged eye. By better understanding these processes more effective treatment approaches and preventive...
Albinism or Albino is a disorder that’s inherited that affects the production of melatonin. There are two types of albinism Ocular and Oculocutaneous. In general, a person affected by oculocutaneous has very pale skin, no pigmentation of hair (so a near white colored hair), and very light colored around the eye. There is a type of albinism that only affects the eyes that make the irises very pale to not very existent this is called ocular albinism. In the U.S., albinism isn’t a big problem but in Australia, Tanzania, and Pacific Island countries have huge impacts of albinism. In most of the world there is a 1 in 50,000 chance you’ll have a child that will be albino, but in Tanzania there is a 1 in 1,400 it’s likely to have a child that’s albino. The symptoms of albinism are patches of skin that are missing color, lighter than normal skin, absence of color in the hair, skin, or iris of the eye and associated with cross eyes (strabismus), light sensitivity, rapid eye movement, and blindness. [www.nlm.nih.gov/medlineplus] People with albinism have a greater chance to develop skin cancer due to the fact melatonin is so low or none is present to make the skin burn in sun light. To find out if someone has albinism generally a health provider would have blood test taken in the womb of the mother before the child is born. Also, genetic testing may occur to see if albinism has occurred. Albinism affects the body by not producing melatonin which makes the skin pale, very light colored hair, and very light colored irises because of a very low production of melatonin they are very susceptible to getting sun burnt and having skin cancer. Because of very light colored irises, eye problems can occur which is primarily the only health problem a ...
Lewis, Ricki, (2014), Human Genetics, 11th Edition, Chapter 12. Gene Mutation. [VitalSource Bookshelf Online]. Retrieved from
Albinism is a health disorder where individuals are born lacking the usual pigment in their bodies. It generally affects the color of the skin and the eye. Albinism is an uncommon illness and cannot be stop or cure. Once you have Albinism you will have it all your life. Being a infrequent condition, research still looking on how to possibly cure it. But, being a inherited condition, study does not guarantee there will be a treatment. The only way to prevent it is to check the parents for a recessive gene before having a baby.
Albinism is a genetic disorder that is caused by the lack of pigments. Sometimes it only affects the eye which is called ocular albinism. You can receive albinism from your genetics. You can be an albino in your eyes, skin or hair. It affects people of all races and all around the world. Studies show one in 20,000 people worldwide have some form of albinism. Certain forms of albinism are more common in some populations. Most common form of albinism is OCAZ and is found in one in 36, 0000 Caucasians in the United States. There are four types of albinism; type 1 is characterized by white hair, very pale skin, and light colored eyes. Type 2 is less severe their skin is usually a creamy white color and their hair could be a light yellow, blonde or light brown. Type 3 has a form of albinism called “rufous oculocutaneous albinism” this usually affects dark-skinned people. They have reddish-brown skin, ginger or red hair and hazel or brown eyes. Type 3 has milder vision problems. Type 4 has the same symptoms similar to type 2. Types 1 and 2 are the most common forms; types 3 and 4 are not as common.
Robert, a 65 year-old male, has trouble reading fine detail, especially out of his central vision. He complains that his vision is blurred and that it is harder to see while operating a motor vehicle. In addition, sometimes objects appear wavy or crooked, which impairs his vision. His worst symptoms were that he occasionally lost the ability to distinguish between the features of familiar faces and he had a localized blind spot. Robert is not alone; many people suffer from symptoms related to loss and distortion of the visual field. He suffers from macular degeneration, the leading cause of decreased vision loss in the United States, especially for people over the age of 50 (Philippi, 2000).
Werner syndrome, also known as Adult Progeria, is a devastating disease characterized by early aging, short and thin stature, and bilateral ocular cataracts. Patients with this disease also experience increased susceptibility to cancer and a lower expected lifespan. Since Werner syndrome is an autosomal recessive disease, patients will therefore need recessive alleles from both parents to fall victim to the disease. The WRN protein is a member of the RecQ family of DNA helicases and is involved in diverse pathways including DNA repair, replication, Telomere metabolism, and P53 mediated pathways. (Agrelo paper). Werner syndrome is strongly associated with a decreased amount of the complete WRN protein.
Glaucoma is a group of eye disorders that cause blindness by hurting the optic nerve, which is the large nerve that is responsible for vision. In glaucoma, the optic nerve damage is related to a change in the fluid pressure that circulates around the eyeball. In many cases, Glaucoma occurs when the eye's fluid pressure is high, but it can also occur when the pressure is measured as normal.
Albinism is a very serious disease that could end up in death. Albinism is a recessive inherited defect in melanin, which is metabolism in which pigment is absent from skin, hair, and eyes. Albinism in hair, skin, and eyes is called oculocutaneous albinism. Humans that have oculocotaneous albinism are not able to produce melanin. These people have white, yellow, or yellow brown hair, very light ( usually blue ) eyes, and very pale skin. Their eyes may appear pink because they have very little pigment.