Advantages And Disadvantages Of Retinitis Pigmentosa

A medical definition of vision impairment is a sine qua non that prohibits 20/20 vision in one or both eyes (Bowman, Bowman, Dutton & Royal National Institute for the Blind, 2001; Vision Australia, 2015; Webster & Roe, 1998). Examples of vision impairment include, cataracts, which has the lens inside the eye increasingly cloudy; albinism, which is passed down genetically affecting clear vision and causes sensitivity to bright light; optic nerve damage, which affects field of vision as those nerves controlling vision are disrupted; macular degeneration, where parts of the retina that control colour and fine details are affected; retinitis pigmentosa, which is an ongoing reduction of the field of vision available and nystagmus, where the eye flickers involuntary (Bowman, Bowman, Dutton & Royal National Institute for the Blind, 2001; American Foundation for the Blind, 2015; Vision Australia, 2015 ; Baton Rouge Regional Eye Bank, 2015). John suffers from retinitis

Colour blindness can is often carries the mutated gene on the X chromosomes that it passed 50% of this over to the child, the mother may not have had colour blindness but it would most likely be carried on one of the X chromosomes, If the mother is the carrier and the father doesn’t have colour blindness there is a one in two chance that the son may have the disease while for the daughter there is a one in two chance that she would be the carrier of the disease and there being no chance in her getting it. (National Eye Institution, Accessed 22.08.2015). If both of the Parents are carriers that means that there is a one in four chance that the child would most likely have the disease, one in two that the child is a carrier of the disease or a one in four chance that the child isn’t a carrier of the disease and also doesn’t have the disease although it is most likely that one of the children would end up getting colour blindness if one of the parents happen to have it (National Eye Institution, Accessed

10-15% of retinitis pigmentosa cases are X-linked and they tend to be the most serious as the disease manifests early and progresses rapidly in men (Haddad et al., 2016; Pawlyk et al., 2016). There has been research that shows that some female carriers of X-linked retinitis pigmentosa have been affected by the disease, but the mechanism behind this remains a mystery. The female carriers typically do not manifest symptoms as they have two X-chromosomes and can form barr bodies in which one of the chromosomes is inactivated and the other remains active. The time frame that most X-linked retinitis pigmentosa patients are given to expect complete blindness is typically from age 30-40, although some X-linked retinitis pigmentosa patients have experienced a complete loss of vision much earlier than this (Haddad et al.,

Retinitis Pigmentosa (RP) is one of such currently untreatable causes of blindness. RP, along with Age Related Macular Degeneration (AMD) are amongst the more frequent causes of blindness in the developed world (Greenwald 2009), while RP itself is the leading cause of inherited blindness (Palanker 2004).

As humans, we don't always see with our eyes, but often with our imagination (Grunwald, 2016). Often times as people we never realize how useful our vision really is to us. You really don't think about something like that until it would actual happen to you. Throughout this essay, you will learn how the body is affected by Macular Degeneration (MD). Different signs and symptoms, as well as the etiology of MD, will be discussed. In the following, diagnosis tests and treatments may also be listed in order to help others who would like to know more about MD. Not to mention, you will learn the incidence and progression of MD. Furthermore, information though agencies and associations, as well as new research about MD will be given.

AMD is a neurodegenerative disease that preferentially affects the macular (central) region of the retina, although the reason for this is not clearly understood. The disease is categorized into early, intermediate, or advanced stages based on the severity of symptoms, including the number and size of drusen accompanied by hyper- or hypopigmentary changes and the presence or absence of choroidal neovascularization. The yellowish lipid-rich, protein-containing drusen deposits accumulate between the retinal pigment epithelium (RPE) and Bruch’s membrane and are symptomatic of early disease. Drusen are considered the “hallmark” of AMD. The term “dry AMD” refers broadly to early or

“Achromatopsia affects roughly 1 in 33,000 Americans.” (2) Achromatopsia is a condition in which a person loses partial or all of their ability to see color and can also be referred to as achromatism, rod monochromatism, or total color blindness. It is the result of a change in one of the following genes: CNGA3, CNGB3, GNAT2, PDE6C, or PDE6H. Achromatopsia is a disorder that affects the retina, which is the part of the eye that is sensitive to light and forms visual images. Inside the retina is two different types of light receptor cells, called rods and cones. These cells use a process called phototransduction to send visual signals from the eye to the brain. Mutations in any of the genes above disrupt the phototransduction process, affecting

Sex-linked disorders are recessive therefore, colorblindness is a sex-linked trait. Color blindness in humans is a mutation carried on the X chromosome.

More than forty percent of the mice tested gained the ability to see light clearly. This was a new medical advancement for the science community as no one has ever before been successful in transplanting stem cells that have the ability to sense light. Retinal degeneration is extremely complex to treat until now. Cells need to have the ability to make connections with the host’s nervous system and send signals to the brain. Regardless, many unsolved answers exist. Researchers are still trying to find a way to increase the number of connections between a degenerated retina and the transplant. This would allow the hosts to not only see light but large-scale figures and movement. This is extremely important as retinal degeneration that affects approximately around 170 million people worldwide can led to total blindness. Nevertheless, this advancement comes with many unanswered questions. Researchers are concerned whether this treatment could actually be applied to humans as many risk factors exist. The experiments do not provide information on recovery time in humans nor how the transplanted retinas would respond to the same procedure. Moreover, Scientists contend whether human eyes have different environments from mice. The only way researchers could test human retinal transplants would be from human conducted trails which remain a controversial

Retinitis pigmentosa(RP) is an inherited, degenerative eye disease that causes severe vision impairment due to the progressive degeneration of the rod photoreceptor cells in the retina . Retinitis pigmentosa is one of the most common inherited diseases of the retina, affecting 1.5 million people worldwide. Up to 150 mutations are known to cause retinitis pigmentosa, which includes three genetic inheritance patterns- autosomal dominant inheritance, autosomal recessive inheritance, or X-linked inheritance. Symptoms often first appear in childhood that patients would endure nyctalopia, the decreasing vision at night or in low light, then lost of peripheral vision causing “tunnel vision” and finally,

Red-green colorblindness is usually inherited in an X-linked recessive way and it affects an approximated 6 percent of men in the world. This means that, the disorder is usually passed to the affected persons through the X chromosomes thus making the condition to be experienced more by men than

Rhegmatogenous RD, the most common type of RD, occurs when there is a tear in the retina allowing the fluid from the vitreous cavity to accumulate in the subretinal space resulting in detachment. Certain group of people is considered at high risk, including those with myopia,

     Basically what my research is stating is that there is a major genetic component that contributes to this disease. There are three general types of hereditary Macular Degeneration. The first is called early onset. This is when you get it when you are four years of age up to seven. In this type both parents and their children can be affected. This means it is dominantly inherited. Most of the time this is called Best Disease or Viteliform Macular Degeneration.

Another symptom of Usher Syndrome is retinitis pigmentosa (RP), which is a disorder that causes progressive loss of vision. The retina is a tissue at the back of the eye that is needed for vision. Gene mutation in Usher syndrome affects the retina's light-sensing cells. In RP, the retina's light-sensing cells begin to fail, starting at the outer edges. As RP gets worse, the person loses peripheral vision first then central vision.

Macular degeneration prognosis is different for every body and is different for each eye. One person may experience a different rate of progression.There is usually no way to know, once symptoms appear, how fast the disease will progress (Samuel, 2008). This disease can be prevented if it is detected and treated early.For the majority of people age related macular degeneration (AMD) progresses slowly and affects only their central vision. It is not blindness but it is considered low vision. High-risk patients should be included in a disease management program in an effort to prevent progression and low vison.