The Disease Retinoblastoma There's a disease that lurks among young children even to this day. It's a direct result of a mutation in the genes that could result in the removal of the eye. Both boys and girls are affected, and one in every fifteen to thirty thousand babies is infected every year (Ambramson, Ch1). This eye corrupting, chromosomal abnormality shows up in about 300-350 new cases each year. It is called retinoblastoma. Many signs include a "white pupil," also known as leukocoria. Retinoblastoma can occur in either one or two eyes (Paul T. Finger, Pg. 1). This abnormal white pupillary reflex is sometimes referred to as a cat's eye reflex. Another sign of retinoblastoma is a crossed eye (Ambramson, Ch3). Leukocoria doesn't always end up as being retinoblastoma, it can even result in: congenital cataract, Toxocara canis, Coat's disease, and persistent hypertrophic primary vitreous (PHPV) (Finger, Pg.2). Retinoblastoma occurs when there's a mutation or deletion of the q14 band of chromosome 13 (Finger, Pg. 1). Symptoms can be painful if not treated quickly. Some include a red, painful eye, swelling of the surrounding eye, poor vision, dilated pupil, even extra fingers or toes, and retardation (Ambramson, Ch3). There is a very limited number in how this disease can be treated. I can be examined under anesthesia, specialized blood tests, CAT scans, and ultrasound (Finger, Pg. 1). Normally, a child would be examined if there were a past history of retinoblastoma from the parents. There would be a slim chance if a child shows up with the disease if the parents had ever had it. Normally, parents are the ones to notice the "white pupil" first (Ambramson, Ch6). The optometrist would recommend an ophthalmologist, who uses anesthesia to analyze the eye. He/she will then dilate the eyes to view the retina in search of tumors or abnormalities and where they are located. Sketches are then drawn or photographs using specialized equipment would be taken. Ultrasound would be used afterwards to determine the thickness and height if a tumor was found. Finally, a CAT scan is used to determine if the tumor is inside the eye or outside of their brain (Ambramson, Ch6). Once this is completed, the process of treatment would begin. Treatment methods include enucleation, external beam radiation, and chemo reduction. Enucleation, the most common process, is simply the removal of the eye.
Loss of vision in one or both eyes
The Oyez Project. N.p., n.d. Web. The Web. The Web. 18 Mar. 2010. http://www.eyes.org/cases/1970-1979/1971/1971_70_18>.
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...
There are essentially three main types of cancer treatments; surgery, chemotherapy, and radiation. Surgery allows doctors to effectively remove tumors from a clear plane. Chemotherapy uses drugs to treat the tumor; but often the drugs affect other healthy cells in the process. Using radiation as a treatment can be either precise or vague. Many health stigmas can come from the vague forms of radiation or conventional radiation therapy. Conventional radiation treats both the unhealthy and healthy cells, therefore exposing healthy cells to harmful radiation (Radiation Oncology, 2011, p.6). When healthy cells are exposed to gamma radiation they are also exposed to ionizing radiation. The ionization can cause “breakage of chemical bonds or oxidization (addition of oxygen atoms)” in a cell; the main impact of this is on a cell’s DNA, if two strands of DNA break it can result in “mutations, chromosome aberrations, ...
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.
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.
I have always been taught that you should never judge a book by it‘s cover. Something happened at birth that has greatly affected who I am today. I was born with a condition called lazy eye. Lazy eye syndrome is a condition where the eyes do not align properly, causing one or both eyes to weaken. If left untreated, the lazy eye does not develop properly. I inherited this from my dad, who also inherited the condition from his father. My mother first noticed I had eye problems when I was 2 months old and had my eyes examined. Because of my age, my doctor was reluctant to try surgery. So, my parents followed the treatment regiment and had me wear eye patches to help strengthen the weak eye. After 18 months of treatment, my doctor felt I was ready for surgery. Although some improvement was noticeable, it was too early to know if this would be the only surgery necessary to correct my eyes. I would have to continue to track my eyes through doctor examinations over the next few years to know if the surgery was completely successful.
Rett syndrome is a particular neurological disorder that is first found in the first few months of life and typically almost always diagnosed in girls, but can be seen in boys, rarely, but it is possible (International Rett Syndrome Foundation, 2014). Rett syndrome symptoms soon appear after an early period of regular or near regular development until six to eighteen months of life, when there is a slowing down or stopping of skills. A period of backsliding then follows when the young female child loses communication skills and purposeful use of her hands. Soon, the known physical handicaps became visible such as washing hands, difficulty walking, and head growth abnormalities, the head will grow slower than it supposed to. More symptoms that may be brought on by the syndrome can include seizures and rapid and/or slow breathing repetitions while the child is not sleep. In the younger years of childlife, there may be a time of separation or withdrawal when she is irritable and cries inconsolably. With time, motor skill problems may increase, but in generally, the irritability the child endures lessens and eye contact and communication improve (International Rett Syndrome Foundation, 2014). According to rettsyndrome.org, Rett syndrome is caused by mutations on the X chromosome on a gene called MECP2. There are more than 200 different mutations found on the MECP2 gene. Most of these mutations are found in eight different spots. It strikes all racial and ethnic groups, and occurs worldwide in 1 of every 10,000 to 23,000 female births (Rett Syndrome Foundation, 2014). It is not a degenerative disorder, saying that this syndrome does not cause the body or the mind of the infected child to become weaker. It also causes problems in brai...
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 over the age of 40.
Since, OSA increases the risk of various health issues it is very important that people suffering from it go through the required treatment to get it cured. Usually the treatment methods for OSA require a long term management and some of the treatment methods used are:
Cancer. A word that many people know as a reality. There are many different types of cancer that affect various amounts of people. One especially dangerous cancer is neuroblastoma. “Neuroblastoma . . . accounts for about 6% of all cancers in children . . . The average age at the time of diagnosis is about 1 to 2 years” ("What Are the Key Statistics about Neuroblastoma?"). Neuroblastoma is a devastating cancer found mostly in young children that is hard to terminate but learning the symptoms and most effective treatments can help with diagnosis and cure for an affected child.
There are many sub divisions of therapies focusing on different routes of cure/prevention. Biologically, chemotherapy and psychosurgeries are available; but below I will discuss the treatments available psychologically. Psychologically, there are various treatments mainly the psychodynamic and the behavioural approach. The main psychodynamic therapy is psychoanalysis and brief psychodynamic therapy and the main behavioural approaches are the behaviour therapy and behavioural modification.
...omosomes or genetic/chromosomal disorders. The most common type of genetic or chromosomal disorder is Down Syndrome or trisomy 21 (Cherry, n.d.). The condition occurs when a child has three chromosomes at the site of the twenty-first chromosome rather than the normal two. Some of the most common signs of Down Syndrome include round face, thick tongue, slanted eyes, hearing problems, heart defects, and intellectual impairment.
The age of onset for Astigmatism is generally present at birth and will be either near or farsightedness or a combo of both. At that time it’s not enough to be corrected. When the time comes around, treatment options are corrective lenses or surgery. Astigmatism can also suddenly develop after an eye operation or an injury to the eye.
The images formed on the two retinas are so unlike that they cannot be blended in the brain. Thus, a double image is perceived. The condition is known as diplopia, or double vision. Prismatic lenses are prescribed to correct this defect.Imperfections in the cones of the retina, resulting from heredity or disease, cause defective color vision. This is known as color blindness, or Daltonism. In total color blindness, everything appears in shades of gray.