Coats Disease
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.
Coats disease was first diagnosed by Dr. George Coats in 1912. He described it as retinal detachment. It only happens in one eye and it tends to be a buildup of cholesterol. It can eventually lead to blindness in the affecte...
examines the effects of the colorblindness approach to achieving a post-racial society. Wingfield, a professor of sociology at Washington University in St. Louis and the author of numerous books and articles concerning racism in America, focuses her research around the effects of the colorblindness ideology on individual cultures and social issues. This article appears in The Atlantic, a left-leaning news source, along with a collection of Wingfield’s other articles, mostly covering issues concerning racism and segregation in America.
I will discuss the general symptoms of these two types along with pathology, diagnostic factors, and the different treatments for this disorder (Smith). EDS can vary in severity and are transmitted as autosomal recessive, autosomal dominant, or X-linked recessive traits. The primary characteristics are hyperextensible skin and joints (Dia. 1-2, pg.6), tendency to bruise easily (Dia. 3, pg.6), reduced wound healing capability, pseudotumors, and ocular defects. Differences within the six types may reflect inter/intra familial variability or genetic heterogeneity. Each type of EDS is classified into symptoms and signs that result (Clarke, D., Skrocki-Czerpak, K., Neumann-Potash, L).
Gas in 1968 described Acute Posterior Multifocal Placoid Pigment Epitheliopathy (APMPPE) as being a condition that caused acute and rapid loss of central vision due to multiple pale lesions at the level of Retinal pigment epithelium (RPE) in the posterior pole. (1) It is a self-limiting condition which recovers spontaneously over a three weeks period leaving residual pigment epithelial alterations.(2) The typical features in acute phase include cream colored placoid lesions at the level of RPE, early hypofluorescence and late hyperfluorescence of the lesions on Fundus fluorescein angiography (FFA).(2) It is usually followed by a viral flu like prodrome in 1/3 of the patients. Neurological manifestations of APMPPE include Headaches being commonest while others are paraesthesias, vertigo, psychosis and more severe complications, Cerebrospinal fluid pleocytosis stroke and cerebral vasculitis.(3, 4) Association of APMPPE with systemic Vasculitis in the patients with positive perinuclear antineutrophil cytoplasmic antibody has been reported.(5, 6) Other systemic inflammatory diseases suggesting an underlying immune mediated or an inflammatory mechanism include erythema nodosum,(7-9) juvenile rheumatoid arthritis,(10) thyroiditis,(11, 12) nephritis,(5, 6, 13) ulcerative colitis(14) and Adenoviral infections(15) . Many granulomatous diseases have documented associations with APMPPE, including Wegener’s granulomatosis,(16-18) Pulmonary tuberculosis(19) and Sarcoidosis.
Osgood-Schlatter Disease or syndrome (OSD) is an irritation of the patellar ligament at the tibial tuberosity (Dhar). Osgood-Schlatter Disease is claimed by some to not actually be a disease (Sims). But is rather a collection of symptoms that involve the tibial tubercle epiphysis (Sims). Osgood-Schlatter Disease affects as many as 1 in 5 adolescent athletes (Diseases and Conditions: Osgood-Schlatter Disease). Some other common names for this disease are Osteochondrosis, Tibial Aponphysitis, Tibial Tubercle Apophyseal Traction Injury, Morbus Osgood-
In the book it says "They can spend a whole lifetime worrying whether they 're carriers, and then we come along and offer them a test. Recessives and X-linked. Look what they 're doing with fragile-X nowadays. And cystic fibrosis. Just imagine the commercial possibilities if you can design and patent a probe for something like Gaucher 's disease...(69)" Recessive traits is the phenotype is seen only a homozygous recessive genotype for the traits of the interest is present. The booked talked about two of three diseases that are most common in the Ashkenazi Jewish population. The first one is Cystic fibrosis which is an inherited life-threatening disorder that effects the lungs and the digestive system. The other one mention in the book that wasn’t mention in class was Gaucher 's disease. Gaucher 's disease is a build up of fatty substances in your organs, usually in you spleen and liver. Which causes them to become bigger affecting their function. The last one that we learned in class was Tay-Sachs disease, which is a rare inherited disorder that destroys nerve cells in the brain and spinal
Ivy is the third generation in her family to be affected by achondroplasia. Her grandfather, her father, and her brother also have it. Achondroplasia is inherited as an autosomal dominant trait whereby only a single copy of the abnormal gene is required to cause achondroplasia. Nobody with the mutated gene can escape having achondroplasia. Many individuals with achondroplasia have normal parents, though. In this case, the genetic disorder would be caused by a de novo gene mutation. De novo gene mutations are associated with advanced paternal age, often defined as over age 35 years. If an individual with achondroplasia produce offspring with a normal individual, the chances of the offspring inheriting the mutant allele achondroplasia is 50%. If both of the parents have achondroplasia, the chances that their offspring will be of normal stature a...
DMD also known as muscular dystrophy is muscular disease that occurs on young boys around age four to six. Muscular dystrophy is genetically transmitted disease carried from parent to offspring. This disease progressively damages or disturbs skeletal and cardiac muscle functions starting on the lower limbs. Obviously by damaging the muscle, the lower limbs and other muscles affected become very weak. This is ultimately caused by the lack dystrophin, a protein the body produces.
Age related macular degeneration (AMD) is the leading cause of blindness in people over the age of 50. Every ten years after the age of 50 the prevalence of this disease increases exponentially. Many different factors contribute to the development of AMD including genetic, environment, and metabolic functions. Aside from smoking, abnormal blood pressure, and an unhealthy diet low in fruits and vegetables, many more studies are concluding that similar inflammatory and oxidative processes seen in other age related diseases are also playing a key role in the development of AMD. This disease affects the central areas of the retina and choroid. In return central vision is impaired while peripheral vision is usually not lost. AMD is seen in two different forms, the earlier nonneovascular (dry) type and the more advanced neovascular (wet) type. Each form has its own specific pathology and unique characteristics that set them apart. Fatty, protein deposits called drusens may be the key risk factor in understanding dry AMD pathology, progression, and treatment. Once the more advanced wet AMD is diagnosed, pathology and treatment are targeted around the formation and destruction of abnormal blood vessels, characteristic of the wet AMD eye. The increasing prevalence of AMD has influenced more investigation into what factors can be modulated to prevent the onset or to stop the progression of AMD. Early diagnosis is very important because this is when an eye doctor can spot the early signs of the disease through ultrasound or angiography. This text will discuss the pathology of drusens and the role of inflammation and oxidation in the aged eye. By better understanding these processes more effective treatment approaches and preventive...
Addison’s disease is a disorder of the endocrine system. It is a hormonal disorder that can strike anyone, any gender at any age. Addison’s disease has also been called Adrenal Insufficiency (hypocortisolism) because the root of the disease is in the adrenal gland not producing enough of the hormone cortisol, or sometimes not enough of the hormone aldosterone to satisfy the body’s needs.
It is a rare condition that affects 2 % of Americans. Signs of pathological myopia include: Bending or distortion of straight lines, altered color perception, reduced contrast sensitivity, and increasing gloss of central vision. It is a quick severe progression of myopia and loss of vision is the end result. There is an increased risk of retinal detachment and other degenerative changes in the back of the eye (bleeding from abnormal blood vessel growth). If any of these things occur the risk of cataracts could increase. Treatment calls for a combination of a drug and a laser procedure called photodynamic therapy. It is reported to be the seventh ranking cause of legal blindness in the United States of America the fourth ranking cause in Hong Kong and the second in parts of China and Japan this form of myopia frequently progresses in adult life, with small intermittent steps of elongation being observable at any age. The adult progression appears to be due to the stretching of the walls of the eye. Genetically weak elements of the scleral wall are prone to thinning and stretching. One of the major forces at work in this stretching process appears to be the normal intra-ocular pressure (Ward
Some diseases that affect the retina and posterior segment of the eye include diabetic retinopathy, retinal cancer (melanoma), glaucoma, age macular degeneration, and uveitis. Diabetic retinopathy and glaucoma fall under diabetic eye disease. Diabetic retinopathy is the most common diabetic eye disease. It is the damage to the blood vessels in the retina. Gl...
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).
Robert, a 65 year-old male, has trouble reading fine detail, especially out of his central vision. He complains that his vision is blurred and that it is harder to see while operating a motor vehicle. In addition, sometimes objects appear wavy or crooked, which impairs his vision. His worst symptoms were that he occasionally lost the ability to distinguish between the features of familiar faces and he had a localized blind spot. Robert is not alone; many people suffer from symptoms related to loss and distortion of the visual field. He suffers from macular degeneration, the leading cause of decreased vision loss in the United States, especially for people over the age of 50 (Philippi, 2000).
Psoriasis is a chronic skin disorder, easily identified by its symptoms of white, scaly skin and red lesions, though not so easily cured or understood. In psoriasis, skin cells mature faster than the body can shed them, causing a buildup. Although there are many theories as to what the cause of such a disease might be – genetics, stress, or other triggers – no one is quite sure why the disease occurs, or what could be a possible way to fully cure it. In this essay we will explore the symptoms, types, and effects of this condition, and also some of the known treatments.
The patient is a 43 year-old female insurance sale agent who came to the clinic for annual eye examination. She complained from symptoms of ocular irritation and burning when she wakes up in the morning. She felt ocular dryness in the afternoon and the eyes look red. She has also noted different height of her eyelids when putting make-up on. She denied significant problems with driving, TV watching, computer use or reading. She also denied flashes, floaters or diplopia. The patient was myopia with no prior eye surgeries, previous history of eye trauma, amblyopia or strabismus. She did not use any medication. The past ocular family history was negative. Social history was negative, too.