Retinitis Pigmentosa Research Paper

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

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.

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).

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.

Melanin, the major pigment responsible for skin, hair, and eye coloration, is synthesized in cytoplasmic organelles called melanosomes. Melanosomes are the cellular site of synthesis, storage and transport of melanin pigments, and are found in melanocyte cells. Mutations in genes responsible for the necessary melanocyte proteins to make melanin pigment result in a reduction or absence of melanin pigment, a condition known as oculocutaneous albinism. Oculocutaneous albinism type one (OCA1) is a genetic deficiency associated with 0-10% of normal melanin production in the skin, hair, and eyes. They’re two subtypes of OCA1, OCA1A and OCA1B. Individuals

A review of this concept done by Alan Cowey and Petra Stoerig looks at blindsight from a different point of view by first looking at the retinal ganglion cells which receive the visual information from photoreceptors in the eye. They then looked at the particular retinal ganglion cells in a normal retina versus those in a subject with striate cortex damage. The major factors included the amount of degeneration in the retinal ganglion cells and how many remained. The ultimate conclusion came that although there was much degeneration in the cells occurred, there were still some that survived. So what happens with these remaining cells? To try and answer this question they take a look at the ganglion cells in monkeys and see if there is any possible connection from those to the visual cortex that could be causing the phenomenon of blindsight. Cowey and Stoerig discuss the idea of having some other pathways from the ganglion cells to other areas of the brain such as V4, despite the damage of the dLGN that is causing the response to

“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

CRSC is a common retinopathy characterized by episodes of serous neurosensory retinal detahcment at the posterior pole. Althought CRSC is generally a self-limiting condition associated with a good visual prognosis, in one third to half of all cases recurrences occur after the first episode and in some cases subretinal fluid may persists over 6 months, resulting in chronic CRSC. Persistance of subretinal fluid causes pigment epithelial and photoreceptor damage, type 1 choroidal neovascularization (CNV) and polypoidal choroidal vasculopaty, leading to visual impairment and metamorphopsia.

Oculocutaneous albinism or OCA is a set of four (or seven, including subdivisions) rare genetic disorders that are caused by mutations in up to seven different genes and are characterized by a complete lack or reduction of the pigment melanin in the eyes, hair, and skin. An estimated 1 in 20,000 people worldwide are born with this disorder. The conditions of OCA are caused by mutations in genes that are responsible and necessary for producing the melanin pigment in specialized cells (melanocytes). Not having enough of the melanin pigment can result in abnormal eye development, resulting in vision problems, and light skin that is easily damaged by the sun, at times resulting in different skin cancers, including an aggressive form called melanoma. Symptoms of this condition can also include nystagmus (involuntary back and forth movement of eyes), iris transillumination (reduced pigment in iris), reduced pigment in the retina, macular hypoplasia (poor development of the macula, resulting in abnormal foveal development in the retina), generally poor visual sharpness, photophobia (increased sensitivity to light), and strabismus (abnormal connection of the nerves from retina to brain, keeping the eyes from tracking

Glaucoma is a condition having to do with the buildup of pressure within the eyeball due to the obstruction of the outflow of liquid in the eye. Intraocular pressure can damage the optic nerve, which transmits images to the brain. If destruction to the optic nerve from high eye pressure continues, glaucoma will cause eternal loss of vision. The less common cause of glaucoma include a blunt natural damage to the eye, strict eye infection, obstruction of blood vessels in the eye, seditious conditions of the eye and occasionally eye surgery to correct the condition.

Retinitis Pigmentosa 3 is blindness caused by the progressive death of rod and cone photoreceptors in the retina. This is a genetic disease, that can be inherited in autosomal dominant, recessive

○ Abnormalities of the blood vessel of the retina or the inner lining at the back of the eye

AMD is the leading cause of blindness in the elderly population, which was estimated to affect around 200 million people worldwide in 2020[1] and places vast socioeconomic burden. Degeneration of retinal pigment epithelium (RPE) is believed to play central roles in AMD pathogenesis. RPE is a monolayer of highly pigmented cuboidal cells residing between the photoreceptors (PRs) and Bruch’s membrane. One RPE cell serves around thirty photoreceptors in terms of supporting the visual cycle and phagocytosis of outer segments[2]. As a layer of epithelium, RPE cells selectively transport substances across the blood-retinal-barrier (BRB). In addition, RPE secrete growth factors such as FGFs, PEDF, and VEGF to support the retina and choriocapillaris. Owing to the

Witnessing the first sign of Retinitis Pigmentosa onset in the allegedly normal eye of a case of unilateral RP: A 30 year follow-up

A patient that is diagnosed with retinitis pigmentosa (RP), takes place in the retina lined the back inside wall of the eye. The cells within the retina captures and processes images transmitted through the optic nerve to the brain. Patients whose diagnosed with RP experience a gradual collapsing in their vision because retinal photoreceptor cells have died.