Genetic Disorder : Retinitis Pigmentosa

Since AAV2 vectors do not eliminate or repair the faulty gene, the therapeutic effects may not be permanent. In several studies, improvement of visual sensitive peaked a few

The P1 cross was between four wmf females and nine wild-type males. The F1 progeny consisted of 12 wild-type females, and four triple-mutant males. The P2 cross resulted in 13 females, and 3 males, all with the wild-type phenotype (Table 1). The two parental crosses identify that the mutations are X-link recessive. The triple-mutant females of the P1 cross produce mutant male offspring, but wild-type females. The F1 females would be heterozygous for the mutations, but don’t express the mutations because they still have a wild-type X chromosome. However, the F1 males only have one X chromosome that comes from a mutant mother. The offspring for P1 were crossed again to make and F1 cross. The F1 cross would be X+/Y and X+/X. The F1 cross resulted in 100 F2 progenies over the course of 7 days.

Macular Degeneration is a disease of the eye that gradually causes loss of a person’s central vision. Approximately 1.75 million Americans suffer from vision loss associated with the disease (All About Vision 1). The leading cause of blindness in people over the age of 60, Macular Degeneration, exists in two types (National Eye Institute 1). Both the wet and dry versions of the disease have similarities in risk factors, but differ in symptoms and treatments.

There are many treatments to help with keeping people healthy and extending the life expectancy for this disease. One of the treatments

Retinitis pigmentosa is a group of inheritable diseases that is characterized by gradual deterioration of the photoreceptors in the retina. The photoreceptor cells in the retina, rod cells, are light sensitive cells that are able to sense low levels of light. The frequency of retinitis pigmentosa is one in four thousand births (Deng et al., 2015; Fahim et al., 2012; Haddad et al., 2016; Shu et al., 2012) People affected by retinitis pigmentosa will typically exhibit symptoms of night-blindness first, and this will precede a loss in the patient’s visual acuity field that starts from the outer edge and gradually moves inward resulting in a much smaller visual field and loss of peripheral vision, also known as tunnel vision (Haddad et al., 2016).

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).

For the health condition description of age-related macular degeneration I will discuss the etiology, onset, prevalence rate, body systems, body structures, and associated deficits that come and are associated with this disease. “AMD is the degradation of the cells at the center of the retina which is the layer of tissue at the back of the eye that registers light. The macula is responsible for ventral vision, which enables us to read, drive, participate in sports, and do anything else that requires focusing directly ahead. Macular degeneration distorts the heart of the vision field” (Macular degeneration, 1998). Sunlight and smoking are both influences of the onset of AMD (Age-related Macular Degeneration (AMD), 2014). It is suggested to avoid intense bright sunlight which may help reduce the retinal degeneration. Hats, sunglasses and any other accessories that can help protect the eyes from the sun are suggested. Cigarette smoking has also been linked to increasing the risk of developing AMD and it is recommended that persons should stop smoking to decrease their chance of developing AMD (Age-related Macular Degeneration (AMD), 2014). AMD does not develop until the sixth or seventh decade of life, although early

Glaucoma is a common and important health problem. It is one of the leading causes of blindness in Western Society (Hoskins & Kass, 1989). It is responsible for ten percent of all blindness in the United States and continues to be the second or third most common cause of blindness in the world (Bunce, Fraser, & Wormald, 1999). It is estimated that two million people in the United States have been diagnosed as having glaucoma. Glaucoma is known to affect about two percent of Caucasians beginning at the age of 40 with an increasing risk for those over the age of 60. This risk is especially high if a member of the family has glaucoma or diabetes. Further, there is a higher risk of a glaucoma diagnosis for African Americans

Macular Degeneration is a disease that affects the retina of the eye. The retina is a layer in the back of the eye that helps us to see. It is also the lining of the eye that helps us respond to light. However, when having macular degeneration there are major changes in a person's central vision. The disease causes central images to appear blurred and then dark spots may begin to appear that get larger and larger. It may also be very hard to see straight lines as Macular Degeneration may cause them to be curved. When having this disease color may appear to be darker and less vivid than normal.

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.

Patients OCA1A have an absence of melanin, resulting in white hair, including eyelashes and eyebrows. The skin is also white unable to tan. OCA1A Patients develop Their irises are translucent and born light pink or red, but range in color from light blue to almost pink. These symptoms do not change over time, and don’t vary upon race. They have a visual acuity of 20/200 or less (20/20 being normal vision), and have intense photophobia. Patients with OCA1B are normally born with the same symptoms as those with OCA1A, but the hair and skin often develop some pigment over time. Their irises may change from blue to green/brown later in life. They often are born with visual acuity 20/100. There is also a type of OCA1b, known as temperature sensitive albinism, where there is white hair in the warmer areas of the body (such as scalp) and progressively darker hair in the cooler areas of the

The development of the human body is an exquisite process that involves numerous complicated processes for even the smallest of body parts, including the eyes. The eyes are an extraordinarily complex organ capable of gathering information through refracted light and sending it the brain to assemble a picture. They provide the ability to see and follow a moving object and the capability to tell an approximate distance of an object. When light passes through the cornea and iris pupil, at the anterior portion of the eye, it is focused by the lens onto the retina at the back of the eye. Photoreceptor cells, which are present in the retina, detect the light and send information to interneurons which begin to sort out the information. This information is then sent to ganglion cells which transmits the final information to the brain (Sowden 199). Because the eyes have such complicated and exquisite processes, the likelihood of developmental errors occurring are possible. A large number of these developmental errors lead to congenital defects and abnormalities that effect the individual’s eye sight. Some of these defects and abnormalities can cause serious diseases and syndromes that effect more than just the eyes, but also neurological processes, facial dimorphisms, growth failure, tracheal development, and genitalia anomalies.

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

The purpose of this study is to aid families of patients and other research projects with colorblindness. The data for this study can be accumulated quite easily. Firstly, the genotypes and phenotypes of carriers and affected humans are to be compared to determine the pattern of inheritance. Doing so, it will come to your attention that colorblindness is a genetic condition where it is inherited from the mother. Also, another important result is that red green colorblindness is more common in men than women. In conclusion, colorblindness can be inherited through your genetics or even by certain diseases.

     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.