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.
Treatment depends on signs and severity of disease. These treatments include artificial tears, surgery, glucocorticoids, immunomodulators and prisms. Artificial tears can be used for corneal exposure and associated dryness. In severe lid retraction, eyelid surgery can be considered. Orbital congestion and optic neuropathy can be treated by high dose glucocorticoids. Steroid-sparring agents and additional immunomodulators (cyclosporine, azathioprine) are also used. Sometimes, surgical decompression of the orbit is necessary to prevent severe exophthalmos and optic nerve compression. If patients have diplopia secondary to muscle enlargement and fibrosis, prisms and then strabismus surgery are needed after the inflammatory response is controlled. Eyelid surgery is suggested in patients that have severe exposure due to a fibrotic levator
Optometrists have accepted vision therapy, which is a medical treatment for optical muscle disabilities, as a feasible treatment used for eye related problems; claiming the treatment can strengthen vision and give the patient the opportunity to understand visuals quicker and clearer (Press). Vision therapy originated in the 1950s and over the past 25 years, has gained popularity, mainly because of new technological innovations in the field of treatment. Generally, vision therapy is prescribed as a measure mainly for people between the ages of 3 and 18. With the results from a comprehensive series of eye tests, the optometrist can work with the patient using special instruments—prisms, filters, occluders, and eye lenses—and strengthen the eye muscles, thus improving sight. According to optometrists in favor of vision therapy, these methods of treatment using these instruments function as safer routes to repair eye disabilities. Although vision therapy can yield favorable results, the practice as a treatment for innate eye disabilities has been in hot debate lately; as it can exceed $8000 and insurance companies do not cover the treatment. For decades, insurance companies have refused to accept vision therapy as a legitimate method for repairing eyesight (Boink). Concomitant with lack of insurance, the cost for a full treatment can exceed $8000, and doctors cannot guarantee a successful outcome. Recently, parents of children with eye related disabilities, such as amblyopia (lazy eye) and strabismus (cross-eye), and doctors have attempted to cooperate with public schools to allow families access to school-funded doctors to practice vision therapy. With a tight budget, most schools cannot afford to supply vision therapy, and a...
Retinitis pigmentosa is caused by damage to the retina of the eye. The retina is the light sensitive layer of tissue at the back of the eye. The retina focuses images in the brain and then sends them via electrical signals up to the brain. The retina is a very important part of the eye to help a person see. What is affected in the retina from this disorder are the rods in the eye. The rods allow a person to see in the dark. Retinitis pigmentosa slowly causes the rods in the eye to deteriorate over time. Retinitis pigmentosa also can cause the cones in people’s eyes to deteriorate. If a person’s cones deteriorate first, then the person first develops blindness in the center of their eye and they lose some of their color vision. This form of retinitis pigmentosa is much rarer than the form that deteriorates the rods in the eyes.
Surgery to remove as much of the cancer as possible. In rare cases, removing the affected limb (amputation) may be necessary.
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.
The title refers to the removal of a dull film from the eyes. This is
Sufferers feature severe cranial and facial deformities. The ears may be very poorly developed or absent entirely, as may the nose. The eyelids may be everted, which leaves the eyes and the area around them very susceptible to infection. Babies with this condition often bleed during birth. The lips are pulled
This has more subtle representation and appears over several hours, may stop, and then reappear. They will have an altered level of consciousness, hypotonia, subtle abnormal eye position and movements, decreased spontaneous or abnormal movements and an abnormally tight popliteal angle, and in some cases respiratory abnormalities.
Treatment depends on the location, size, and nature of the retinal detachment. You may be treated with:
1.75 million people in the United States alone affected by Macular Degeneration, and by 2050 it is projected to be 5.1 million. People in the caucasian race are more likely to be affected. Women have a higher chance to be affected. Races other than Caucasian, people of african decent, and Hispanics are more likely to get it compared to other races. Someone with the Disorder can have children as it only affects the eyes and not the reproductive
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
Doctors prescribe miotics for this. Miotics constrict the pupil to allow the iris to move farther away from the drainage duct to allow the aqueous fluid to flow past. Examples of miotics include: Isopto and Pilocar, Other treatments help to slow the production of the aqueous fluid and those medications that help that include: carbonic anhydrase inhibitors, adrenergic agonists, and beta blockers. To reduce inflammation, steroid eye drops may also be given and glaucoma patients need lifelong eye drops given daily. Mydriatic medications are not given to patients who suffer from acute angle-closure glaucoma because they can cause blindness. Examples of mydriatics include: Benadryl, Vistaril, and atropine (Williams and Hopper, 2015).
The disorder later causes blind spots in peripheral vision and soon the blind spots merge to form tunnel vision. After progressing over time, central vision can be affected. Many victims of RP reach adulthood legally blind (“Retinitis pigmentosa”, 2015). There are several ways to test for RP, three examples include a visual acuity test, electroetinogram (ERG), and fundas photographs. A visual acuity test puts a patient 20 feet away from a poster, on the poster are rows of random letters that get tinier after each row. The patient has to read out to the doctor what they think each row contains. This test determines visual accuracy, with a normal score being 20/20. 20/20 vision means one can see what a “normal” person sees at 20 feet. ERG tests “rod and cone function, and is important for confirming a diagnosis of RP (Openshaw et al., 2008).” Sometimes the ERG can show a patient RP is present before symptoms of the disorder are exposed. The test is limited to a few number of centers across the U.S. Fundus photographs use a special camera to “photograph the fundus, or back of the eye (Openshaw et al., 2008).” The eyes must be dilated for the procedure but the test is relatively fast (Openshaw et al., 2008). Complications of RP include cataracts, macular edema (swelling of the retina in the macular area), and in rare cases, vitreous floaters or hemorrhage (ASRS,
...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.
There are many treatments for night blindness that exist today. The most common treatment is taking vitamin A supplements to restore the vitamin A that helps develop and maintain the retina. Also, zinc supplements can be taken as well to further strengthen the retina. Physical forms of treatment include lasers, freezing, injection of gas into the eye, scleral buckling, and removal of the gel inside the eye.