Retinitis Pigmentosa 3 Research Paper

Roi1 is also known as rough eye and it is a dominant mutation which causes abnormal patterns and genomic inversions in the D.melanogaster eye (Chanut et al. 2002). The recombination map location of the Roi1 is 2-54.7. The gl3 is an allele and the Gl1 is a protein for the gl gene, also known as glass, both are located at 3-63.1. The gl gene is known to reduce the size of the adult D. melanogaster eye. Even though the gl3 is a weak allele for the glass gene it produces a really pigmented eye ( Ma et al. 1996). The rh1 gene is known as rhodopsin; the recombination map location is at 3.66.4. Rh1 causes degeneration of the D. melanogaster retina (Kristaponyete et al. 2012). Rho1 also known as the rhomboid gene, is closely related to the roughed (ru); which happens to be a recessive eye mutation (Wasserman

as the common name implies-- lead to irreversible blindness. Study of the disease has shown that

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).

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.

Visual imparity is one of the biggest epidemics in the modern world affecting an estimated 285 million people worldwide (WHO, 2014). Of theses 285 million people, roughly 39 million of them are completely blind. Blindness is a ‘debilitating sensory impairment’ according to Lorach(2014), which can limit a person’s ability to perform everyday tasks and can hugely affect their quality of life. Most of the diseases causing visual impairments, such as cataract can be surgically treated. However, some pathologies cannot be treated with existing treatments or medications. Retinitis pigmenstosa (RP) is an example of such pathology. RP is an inherited eye disorder in which light-receiving photoreceptor cells (rods and cons) degenerate. The photoreceptor

The aggregation of misfolded proteins may occur in different cells and regions of the body, originating a variety of disorders. When affecting the central nervous system (CNS) proteinopathies are often neurodegenerative disorders, and can be characterized by one or more proteinaceous aggregates (Bayer, 2015). Neurons are quite sensitive to the effects of misfolded proteins due to their post-mitotic nature and structure (Wolfe, 2012). Indeed, the long and narrow axonal projections of neurons can be easily clogged by accumulating proteins or by inefficient transport of nutrients and organelles (Wolfe, 2012). Additionally, accumulated misfolded proteins cannot be diluted through cell division, thereby turning neuron’s integrity highly dependent

is a disease that causes optic nerve damage resulting in the gradual loss of sight. Currently, it is estimated more than 3 million

This project required writing a detailed response to a video case study about David DeNotaris, the Director of the Office of Vocational Rehabilitation, who is affected by the eye disease called Retinitis Pigmentosa. I was asked to analyzed his life story in theoretical terms, from a developmental perspective, and provide an introspective review of the significant aspects of his cognitive, social, and emotional development. In this paper I also reflected on the power of the psychological resilience that allowed David to have hope and cope with life adversities. In addition, I explained what aspects of David’s philosophy I would want to incorporate in my future counseling practice.

Derived from the name Albus, which in Latin means “white”, Albinism is defined as a genetic condition/disorder in which the sufferer lacks pigmentation in their eyes (ocular albinism) and/or skin (oculocutaneous albinism). Typically, Albinism is inherited when the sufferer obtains a gene from both parents, a single exception is present in the form of ocular albinism, which only requires a mother to pass the gene down. Someone with a complete loss of all pigment is called an albino, but if the sufferer still has some pigmentation, they are then considered Albinoid or leucistic. Albinism is considered rare (with less than 200,000) in America, but is very common in Africa, having 1 in every 1500 births.

Kirches conducted a case study in which the hereditary movement of LHONs was observed. In this study, it was found that LHONs can cause an acute loss of retinal ganglion cells and their axons. According to this study “RGC loss occurs in about 50% of male and only 10-15% of female mutation carriers” this shows evidence that men are more effected by LHONs it also shows why women do not show symptoms of LHONs (Kirches 2011 n.pg). Showing the true causes of blindness presented with

Refsum disease is characterized by anosmia and early-onset retinitis pigmentosa, which are both universal findings with variable combinations that may occur in the following ten to 15 years in decreasing order of frequency of neuropathy, deafness, ataxia, and ichthyosis (Skjeldal et al 1987= Skjeldal OH, Stokke O, Refsum S, Norseth J, Petit

In the retina, there are three types of cells called cones that are responsible for normal color vision. These are the red cones, the green cones, and the blue cones which can also be referred to M, S, and L cones. A balanced distribution of these cells is necessary for the function of normal color vision. A child born with non-functioning cones will have Achromatopsia. Sometimes children have a reduced complement of the cones, in which case they will have partial or incomplete Achromatopsia. Achromatopsia is an inherited condition and so far, four genes (genetic markers found on chromosomes) are known to be associated with this

3. OCA3: defect in TYRP1, protein that has to do with tyrosinase. People with OCA3 have a generous amount of pigment.

Proteins play a part in every cellular activity and must fold into proper three dimensional configurations, or native state, to execute their intended functions. Proteomic stressors such as chemical exposure or elevated temperature can inhibit protein folding upsetting protein homeostasis and resulting in cell death and human disease (Broadley 2009). Excessive protein misfolding can lead to amyloid fibrillar aggregates which deposit around brain neurons contributing to the development or progression of neurodegenerative disorders: Alzheimer’s disease, Huntington’s disease and Parkinson’s disease are all fundamentally diseases of protein misfolding (Soto 2003, Hartl 2009).