CRITICAL BARRIERS TO PROGRESS The lack of homogeneity and progressive nature of RP poses a crucial problem to the development of novel therapies (Marmor 1979, Greenwald 2009).RP is typically late in its onset and progresses slowly; as such an accurate determination of age of onset is problematic (Tsujikawa 2008). This is particularly troublesome as no efficient therapies are currently available with genetic counseling being key in the treatment of the disease, and without an accurate age of onset, counseling can be troublesome at best (Tsujikawa 2008). Diversity exists not only in disease onset and progression rate, but underlying genetics as well (Chow 2004); over 180 gene mutations are associated with photoreceptor diseases without cures or effective therapies (Greenwald 2009). This makes the development of molecular based therapies difficult as one therapy may only aid one specific type of RP, with a variance in efficacy mirroring the variance in phenotype severity. Even within a single family, a specific mutation may result in a variety of phenotypes (Sohocki 2000). Also, within a single gene, multiple mutations may occur, each with its own retinal degeneration phenotype (Gamundi 2005). Even if these issues with known genetic causes could be mitigated, cases of adRP exist where all known RP associated genes have been excluded, suggesting additional genetic heterogeneity (Alvarez 2007). Within Caucasian populations, 50-60% of cases of RP are diagnosed as “sporadic” due to the inability to pinpoint inheritance patterns (Ziviello 2005). In one study of Italian families with adRP, only 27% of cases could be linked to a known gene, with 73% of cases having alterations in unknown genes (Ziviello 2005). Because of the challenges mo... ... middle of paper ... ...ir mobility and independence indirectly, resulting in an overall greater increase in quality of life. Additionally, this study will improve our knowledge of retinal degenerations and the ability of degenerated photoreceptors with mostly preserved retinal circuitry to be stimulated more effectively through differential brightness/contrast/exposures to increase visual perception. Success of the aims of this study will alter treatments and services in the field as optometrists will have access to a potential prosthesis and resource to give their patients to improve their quality of life once diagnosed with RP. Additionally, this device will give a non-invasive alternative to those patients with early stage disease progression, those RP patients with unknown underlying genetic determinants, and those end-stage patients that do not wish to have subretinal implantation.
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).
Optometrists have accepted vision therapy, which is a medical treatment for optical muscle disabilities, as a feasible treatment used for eye related problems; claiming the treatment can strengthen vision and give the patient the opportunity to understand visuals quicker and clearer (Press). Vision therapy originated in the 1950s and over the past 25 years, has gained popularity, mainly because of new technological innovations in the field of treatment. Generally, vision therapy is prescribed as a measure mainly for people between the ages of 3 and 18. With the results from a comprehensive series of eye tests, the optometrist can work with the patient using special instruments—prisms, filters, occluders, and eye lenses—and strengthen the eye muscles, thus improving sight. According to optometrists in favor of vision therapy, these methods of treatment using these instruments function as safer routes to repair eye disabilities. Although vision therapy can yield favorable results, the practice as a treatment for innate eye disabilities has been in hot debate lately; as it can exceed $8000 and insurance companies do not cover the treatment. For decades, insurance companies have refused to accept vision therapy as a legitimate method for repairing eyesight (Boink). Concomitant with lack of insurance, the cost for a full treatment can exceed $8000, and doctors cannot guarantee a successful outcome. Recently, parents of children with eye related disabilities, such as amblyopia (lazy eye) and strabismus (cross-eye), and doctors have attempted to cooperate with public schools to allow families access to school-funded doctors to practice vision therapy. With a tight budget, most schools cannot afford to supply vision therapy, and a...
In the end, regardless of the scientific methods that could be used to treat different diseases and more specifically retinal degeneration, many studies should be conducted determine the potential clinical application of photobiomodulation with NIR for treatment of different injuries and disorders.
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.
Over 10,000,000 people around the world suffer from some sort of blindness or handicap due to photoreceptor damage. These effects can be caused by a number of afflictions, including retinitis pigmentosa, macular degeneration, and tumors. These illnesses vary in severity from being a mere hindrance to completely blinding the individual. Until recently, those affected were left without hope of a cure or even a treatment that would somewhat improve their vision. But over the last few years, several groups of scientists have been working on a partial cure in the form of neuroprostheses, artificial devices which are inserted in the eye behind or on top of the damaged retinal area. These photoreceptive chips, in theory, should provide information too the healthy neurons residing in the retina, substituting for the damaged photoreceptors.
Stargardt disease is a genetic disease that is inherited as an autosomal recessive trait. The disease is inherited when both parents are carriers of the recessive gene. Parents are typically only carriers and are, therefore, unaffected; however, each of their offspring has a 25 percent change of inheriting the two copies of the Stargardt gene needed to cause the disease. Researchers have found that about 5 percent of the human population carry gene mutations causing inherited retinal disea...
The high percentages of individuals who endure this impairment justifies and practically demands future research because the causes are not fully understood. The need for future research can be better emphasized if those with normal vision try to empathize with victims of macular degeneration. One can only imagine how frustrating it must be to receive sensatrions only in the periphery of the retina. Because the macula encompassed the cone rich fovea, which is used to focus on objects, the fovea degenerates as well. This occurence inables individuals to interpret the sensations they experience. Reading, ...
Imagine an eye disease so rare, it is more common in males and cannot be prevented. Coats disease is a disease that causes a gradual decrease in vision in mainly males. It can lead to retinal detachment and vision loss. Coats disease is a very rare disease that occurs mainly in males; however, it is not hereditary. There is treatment available that can possibly cure Coats but, that is only if it is caught early on. Most of the time, Coats is not diagnosed until later in life which in that case can lead to loss of vision. As I researched more about Coats disease, I hope to learn more about this eye disease to understand more about what my son is going through. The three main things that I will be researching and discussing about Coats will be the causes, diagnosis, and treatment. There is not a lot of research done on Coats due to it being so rare.
Fortunately, cataract formation on the optical lenses proves to be a malady that is simple to fix. Future scholarship on such a topic could serve to address the remaining high statistic of blindness due to cataracts. Perhaps formation of cataracts is under diagnosed due to limited health care availability for some individuals.
Even though we know what causes colorblindness, there are no cures for it. The only thing that could solve colorblindness is making sure this disease is not passed down anymore than it has already been passed down. I do not think that we need to go to such drastic measures as to stop people from having kids just to stop a hereditary disease from being passed down. This disease is not worth all that trouble and sacrifice, these people have never known any different and it is not that big of a deal.
1.75 million people in the United States alone affected by Macular Degeneration, and by 2050 it is projected to be 5.1 million. People in the caucasian race are more likely to be affected. Women have a higher chance to be affected. Races other than Caucasian, people of african decent, and Hispanics are more likely to get it compared to other races. Someone with the Disorder can have children as it only affects the eyes and not the reproductive
There are over 6,000 discovered genetic disorders that have been passed from generation to generation over the centuries. Most of these disorders do not have a cure and leave many people to suffer. Research has been done with different techniques over the years. In the 1960’s, a new concept called gene therapy was introduced. This technique has proven to be successful as well as unsuccessful in many cases and trials, but as technology is increasing, it gives a new possibility for a cure for genetically inherited diseases such as Alzheimer’s Disease.
Mutations in at least 60 different genes can cause RP, in turn causing different forms of the disorder (“Retinitis pigmentosa”, 2015). The mutation can also be “influenced by the environment, or interactions with other genes (Openshaw et al., 2008)." There are three ways RP can be inherited, autosomal dominant, autosomal recessive, and X-linked inheritance.
Macular degeneration also known as late, aged-related maculopathy is an eye disorder which causes a decrease in the visual field known as the retinal macula (Medical Encyclopedia, 2000). The majority of people who are affected are people over the age of 65, but occasionally it develops earlier in people 40-50 years old (Philippi, 2000). The majority of the visual loss is located in the central part of the visual field, while the peripheral vision is unharmed. There are also two types of macular degeneration, the "wet" and "dry" forms. The "dry" form of this disease is the most popular, affecting 90% of the cases (American Academy of Ophthalmology, 1997).
The bionic eye is not a new invention. The idea of creating a retinal prosthesis has appeared for decades. The origin of this idea remains anonymously but it was in 1998 that Mann, Williams and Bjorg set up Second Sight Medical Products to realizer the theory. The first prosthesis system called Argus I was introduced in 2002. However, this device only provides a very limited sight with only 6 electrodes included so in 2006, Argus II has appeared as the next innovation and offered some hope of sight restoration.