Leber Congenital Amaurosis Essay

1503 words - 7 pages

Genetics is a topic that involves everyday life, you and I are made up of genetics. So what happens if something goes wrong in your genetics? Well that would form a mutation. There are so many mutations know today. These mutations can cause disease, cancer, and many other malfunctions. Today I am going to talk about a disease called Leber Congenital Amaurosis, this is caused by several mutations. It can affect the person in many different ways which will be discussed, also how it affects the families, and the genetics. Are there any cures or treatments for Leber Congenital Amaurosis? Well keep reading and you may find out.
After doing reading and research I found that Leber Congenital Amaurosis is one of the earliest and most severe forms of inherited retinopathy. You are probably asking what the disease is, well this disease is an eye disorder that affects the retina. The retina is the black spot in your eye it controls light sensitivity, and this is where the nerves are located that stimulate images in your brain. This is a disease that is diagnosed at birth or as a very young infant. It is known to progress with age. There are very distinct characteristics of this disorder. The earliest and most common symptom is nystagmus, which is shaking of the eyes. This usually appears within the first few months after they are born (Pediatric Ophthalmology, 2012). Also, a person with Leber Congenital Amaurosis is most likely to have deep set eyes, sensitivity to light, and tracking. Also in rare cases they may have delayed development and intellectual disability (Amaurosis, 2013). There are also certain behavioral symptoms that individuals with Leber Congenital Amaurosis tend to do. You may see them poking or rubbing their eyes with the knuckle or finger. Also some secretion such as clear liquid or puss may result from this. This behavior is called franceschettis oculo-digital (Amaurosis, 2013). Since individuals with Leber Congenital Amaurosis are living with out their eye site their other senses become stronger. For example, their touch once they have met someone several times just the touch of that persons hand and they know who you are, or the sound of your voice. It is very fascinating how strong their other senses become, when they walk into a room the individual will know that someone is there and the people in the room do not have to say a word. All of these things are possible because the person lost one sense, eyesight. As a normal individual would take all of these for granted, those who lost one adjust in the most extraordinary ways.
This disease does not only affect the individual that has it, but also the family as well. The child with Leber Congenital Amaurosis needs a person to help them with certain things. When they are younger they need more assistance with things they do in their everyday life. As they get older they make adjustments and learn to deal with their disorder. As a they learn to adjust...

Find Another Essay On Leber Congenital Amaurosis

Enlightenment Thought in New Zealand Schools

1594 words - 6 pages In this essay I will be looking at how the political and intellectual ideas of the enlightenment have shaped New Zealand Education. I will also be discussing the perennial tension of local control versus central control of education, and how this has been affected by the political and intellectual ideas of the enlightenment. The enlightenment was an intellectual movement, which beginnings of were marked by the Glorious Revolution in Britain

Psychological Egoism Theory Essay

2240 words - 9 pages The theory of psychological egoism is indeed plausible. The meaning of plausible in the context of this paper refers to the validity or the conceivability of the theory in question, to explain the nature and motivation of human behavior (Hinman, 2007). Human actions are motivated by the satisfaction obtained after completing a task that they are involved in. For example, Mother Teresa was satisfied by her benevolent actions and

How Celtic Folkore has Influenced My Family

1587 words - 6 pages Every family has a unique background that influences the way they live and interact with other people. My parents, who emigrated from Ireland to the States with my three brothers in 1989, brought over their own Celtic folklore and traditions that have helped shaped the way our family operates and lives. One aspect of folklore that has helped shape my family dynamic is the Celtic cross—both its background and what role it has played in our lives

Julia Margaret Cameron

1406 words - 6 pages At a time when women were looked upon as being homemakers, wives, mothers and such the late 1850's presented a change in pace for one woman in specific. Photography was discovered in 1826 and soon after the phenomenon of photography was being experimented with and in turn brought new and different ways of photo taking not only as documenting real time, but also conceptualizing a scene in which an image would be taken. Julia Margaret Cameron will

Evaluation of School Improvement

1403 words - 6 pages The evaluation process should be progressive to incorporate overall planning, implement changes, which contribute to success. In order to focus on school climate and norms, the evaluation design must include the students, instructions, and outcomes to improve communication and building-level concerns to be address in this response. School Climate and Social Norms The school principal, other staff leaders, and personnel set the tone and the

Case Study: The Benefits of Animal Testing

1757 words - 7 pages Nine year old Amy has already had a rough start in life. She was born with an abnormal heart that hinders her everyday activities. Amy is unable to keep up with kids her own age because she often tires out easily. As a consequence, she has very little friends and is often alone. Amy is forced to take different medications everyday just to survive. Amy’s life consists of medicine, doctors, and constant hospital visits. However, Amy is due for a

Myth and Magic: Realism in "One Hundred Years of Solitude"

1531 words - 6 pages “He enjoyed his grandmother's unique way of telling stories. No matter how fantastic or improbable her statements, she always delivered them as if they were the irrefutable truth” (Wikipedia, 2011). Experiences are particular instances of one personally encountering or undergoing something and in these moments of time life changes for the best or the worst and memories are formed. These recollections such as riding your first bicycle, going to

Adiponectin: a Novel Indicator of Malnutrition and Inflammation in Hemodialysis Patients

2384 words - 10 pages Objective Protein-Energy malnutrition (PEM) and inflammation are common and overlapping conditions in hemodialysis patients which are associated with increased risk of morbidity and mortality. Adiponectin is an adipocytokine which is exclusively produced by adipose tissue. Few studies in hemodialysis patients have demonstrated that serum levels of adiponectin were significantly higher in malnourished patients compared to well-nourished ones. The

The Congo Free State: A Legacy of Apathy, Exploitation and Brutality

2298 words - 9 pages Between 1885 and 1908, Belgium’s Leopold II ruled Congo, a region in central Africa, as his personal colony, exploiting the resources and inhabitants for his own gain. Leopold allowed and encouraged Europeans and other Westerners to enter Congo and set up companies whose primary purpose was to gather rubber, which was abundant but difficult to get to in the Congo, using the Congolese as the laborers for the Europeans. Rubber gathering in Congo

Selective Exposition in The Lottery, by Shirley Jackson

1073 words - 4 pages Usually when someone hears the word “lottery” the first thing that comes to mind is a large sum of cash that people compete against highly impractical odds to win. Shirley Jackson’s story The Lottery might imply a similar conception based on the title alone, but the story is filled with unknowns never revealing exactly when and where the story takes place, or why the lottery exists; even what the lottery is isn’t revealed until the very end. Yet


1857 words - 7 pages INTRODUCTION I remember when I was a young child; I would always be scared whenever there was a severe storm outside that included thunder and lightning. This was especially true in the hours of darkness, when you could really see the lightning. As I grew older this so-called fear of lightning turned into a fascination for this weather phenomena. One of my most vivid memories of lightning as a young man was when I was flying to Florida, the

Similar Essays

Newt's Regeneration Cures Eye Conditions Essay

2407 words - 10 pages factors that cause degradation, disorders like Usher syndrome, retinitis pigmentosa (RP), and leber congenital amaurosis, can also experience degeneration of retinal neurons (Lamba, et. al., 2008). More common vision conditions like myopia and hyperopia, or nearsightedness and farsightedness, are caused by visual stress or genetics. Arising from these conditions are more serious disorders. People with high myopia can develop myopic macular

When The Bubble Burst Essay

1539 words - 6 pages By the time I arrived state side from my second tour in the Middle East the housing bubble had already burst. I noticed a drastic change in the way that many of my friends and family were living. Several of my friends that worked in real estate had sold their boats and seconds houses. My own stock portfolio had lost a third of its value. My sister and her husband had defaulted on their home mortgage leaving them scrambling for a place to live. I

Phase Diagram Essay

4456 words - 18 pages Introduction: Chemical equilibrium is a crucial topic in Chemistry. To represent and model equilibrium, the thermodynamic concept of Free energy is usually used. For a multi-component system the Gibbs free energy is a function of Pressure, Temperature and quantity (mass, moles) of each component. If one of these parameters is changed, a state change to a more energetically favorable state will occur. This state has the lowest free energy

Revolutionary Work Of Art Essay

1890 words - 8 pages Walter Benjamin emphasizes in his essay, “The Work of Art in the Age of its Technological Reproducibility” that technology used to make an artwork has changed the way it was received, and its “aura”. Aura represents the originality and authenticity of a work of art that has not been reproduced. The Sistine Chapel in the Vatican is an example of a work that has been and truly a beacon of art. It has brought a benefit and enlightenment to the art