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In order to be seen at the Retina Foundation of the Southwest, we will need your medical records from your current eye care physician. We serve more than 2,000 infants, children, adults, and seniors each year. If you have an appointment scheduled with us, please fill out the forms below prior to your arrival. This will shorten the length of your visit.
1. Download the correct form(s) for your appointment.
2. When completing your form(s), please enter the date of your appointment and not the date you are filling out the paperwork.
3. After completing your form(s), please print all pages to bring them with you the day of your visit or email them to the contact listed below for the lab you are visiting.
4. On the day of your visit, consent forms that need to be signed will be reviewed with you. If you are unable to sign for yourself, please bring your designated medical POA to this visit.
The Crystal Charity Ball Pediatric Vision Laboratory is a leader in research on the causes and treatments of eye disorders that affect infants and preschool children. The Lab’s research goals include developing accessible technologies for early and accurate detection of pediatric eye conditions and development of new and more effective treatments to promote better vision outcomes and prevent lifelong visual impairment.
If your child has a pediatric eye condition and you have scheduled an appointment with Eileen Birch, Ph.D., please contact the Crystal Charity Ball Pediatric Vision Laboratory at 214-363-3911, ext. 113 or email@example.com. Favor de comunicarse con Yolanda Casteneda si tiene preguntas al número 214-363-3911, ext. 110.
New Referral Form Nuevo Formulario de Referencia Demographics Form/Formulario Demográfico
Using state-of-the-art eye tracking equipment, this Lab works with children with pediatric eye conditions, focusing on the impact that reduced vision has on reading speed and motor skills. By examining how eye movements contribute to slower reading speeds and impaired eye-hand coordination in children with amblyopia (lazy eye), the Lab’s goal is to advance more effective screening and interventions for children with lazy eye.
If your child has a pediatric eye condition and you have scheduled an appointment with Krista Kelly, Ph.D., please contact the Vision and Neurodevelopment Laboratory at 214-363-3911, ext. 108 or firstname.lastname@example.org.
The Rose-Silverthorne Retinal Degenerations Laboratory collaborates with global research partners to identify causes, treatments, and cures for inherited eye diseases. Patients visit the lab for genetic testing and state-of-the-art assessments of visual function. This Lab also conducts numerous clinical trials to determine the safety and efficacy of potential treatments for individuals with inherited eye diseases.
If you have an inherited eye disease and you have scheduled an appointment with David Birch, Ph.D., please contact the Rose-Silverthorne Retinal Degenerations Laboratory at 214-363-3911, ext. 116 or email@example.com.
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The Molecular Ophthalmology Laboratory pioneers medical research to better understand age-related macular degeneration (AMD) and discover new treatment options to combat the disease. As part of that work the MO Lab participates in studies funded by pharmaceutical companies, the National Eye Institute, and other investigator-initiated studies related to AMD. The Lab’s goal is to help patients live more independent, quality-filled lives through early detection, delaying onset, slowing progression, and discovering better treatment options for AMD.
If you have age-related macular degeneration and you have scheduled an appointment with Karl Csaky, M.D., Ph.D., please contact the Molecular Ophthalmology Laboratory at 214-363-3911, ext. 145 or firstname.lastname@example.org.
The Macular Function Laboratory creates and utilizes advanced imaging analysis and visual function evaluation tools to detect vision loss in patients with age-related macular degeneration (AMD), diabetic retinopathy, and inherited retinal diseases. The Lab’s goal is to use artificial intelligence, deep machine learning models, mobile computing technology and other approaches to evaluate and determine the most effective treatments for these eye diseases, so that eye doctors can better care for patients and prevent further vision loss.
If you have an inherited eye disease and you have scheduled an appointment with Yi-Zhong Wang, Ph.D., please contact the Macular Function Laboratory at 214-363-3911, ext. 132 or email@example.com.
We are providing the following information for educational purposes. We regret that we cannot give specific medical advice. If you are experiencing vision problems, we urge you to consult a health care professional. The staff at the Retina Foundation of the Southwest does not answer specific medical questions and does not give referrals or recommendations for a particular doctor.
Age-Related Macular Degeneration
Cataracts in Infants & Young Children
Nutritional Information for Those with Retinal Degenerations
What is Age-Related Macular Degeneration?
Age-related macular degeneration (AMD) is a common, irreversible retinal disease which causes the eye’s macula to gradually deteriorate. The macula is a small, centralized area of the retina which gives us our pinpoint vision. The macula allows us to see fine details and participate in daily activities such as driving, reading, and recognizing faces. As AMD progresses, the macula breaks down and the central vision decreases. AMD typically strikes adults in their fifties or sixties, and progresses painlessly, gradually destroying the central vision.
AMD continues to be the number one cause of severe visual impairment and irreversible vision loss among senior citizens in the United States. The rate of AMD in our population has increased as life expectancy increases. AMD affects 18 million people, and 1 in 10 over the age of 65 years. Our senior population is projected to double by 2030, and with few treatment options and no known cure, the percentage of those suffering from AMD is expected to dramatically increase.
Who is at risk for AMD?
Two Types of AMD: Wet and Dry AMD
Dry AMD accounts for approximately 90% of all cases. Clinical examinations of patients with dry AMD show multiple yellow spots (drusen), which are accumulations of lipid rich deposits underneath the retinal pigment epithelium in the macula. The buildup of drusen is gradual and, in the final stages, causes shriveling of the macula and the underlying retinal pigment epithelium.
Some patients with the early form of dry AMD have excellent visual acuity and no symptoms. However, a significant proportion of patients in the early stages have good visual acuity but difficulty with reading and seeing in dim or darkened lighting. Other common symptoms of early AMD include blurred vision and distortion of straight lines.
Wet AMD is caused by the abnormal growth of blood vessels that leak blood and fluid, in turn destroying the macula and sometimes causing retinal detachment. The onset of wet AMD can occur fairly quickly, often in a matter of weeks, and it can progress to severe vision loss or blindness within a couple of years.
Treating Dry AMD
At the present time there is no cure for dry AMD. However, the Retina Foundation of the Southwest is currently working on a number of research projects in order to discover a method for treating this form of AMD.
Results from nutritional studies suggest that diets rich in vitamins, minerals, and antioxidants may help with maintaining vision or slowing down the progression of AMD. In 2001, the National Eye Institute held a large-scale clinical trial and found high levels of antioxidants — vitamin C, vitamin E, beta-carotene – and zinc reduce the risk of intermediate stage AMD patients developing advanced stage AMD by 25%. Their risk of vision loss was also reduced by 19%. In 2006, the same research group found that lutein and zeaxanthin together appeared to be a safe and effective alternative to beta-carotene.
Laser Therapy for Drusen (LTD) is another treatment for dry AMD that underwent several clinical trials. Researchers found that this low-intensity laser treatment of drusen can reduce the risk of advanced AMD by 30% in people with two high-risk eyes. It would also yield substantial savings in expenditures devoted to treating advanced AMD and the disability it causes, and enhance the quality of life for people at risk.
Research at the Retina Foundation is supported by both public and private sector funds. Financial support is provided in the form of research grants and private donations. We count on the National Institute of Health, National Eye Institute, Food and Drug Administration, Genentech, Allergan, and the W. W. Caruth, Jr. Foundation as some of our many valued giving partners.
Treating Wet AMD
Patients with wet AMD can be treated with laser photocoagulation to seal the leaking blood vessels. Multiple treatments are often necessary. Because the laser also damages healthy tissue surrounding the blood vessels, there is always some vision loss caused by this treatment. However, without treatment, wet AMD results in a complete loss of central vision.
Photodynamic therapy (PDT) is another type of laser therapy for wet AMD. This therapy combines a light-activated drug and a special low-power laser to destroy the abnormal blood vessels. Again, multiple treatments are often necessary. Photodynamic therapy will not reverse any lost vision but, for persons just developing wet AMD, it can reduce the risk of further vision loss.
Anti-angiogenic drugs can be injected into the eye to prevent the growth of abnormal blood vessels under the retina. The drugs are not designed to treat patients with long standing vision loss because once cells are lost, they cannot be revitalized. Patients are typically injected with the drugs every 6-8 weeks. The Retina Foundation is working on developing an out-of-eye approach to delivering the drugs to the retina.
Retinal Transplants and Implants
Retinal translocation surgery is a new treatment for wet AMD that partially detaches and relocates the macula away from the area of abnormal blood vessel growth. A clinical trial to evaluate this highly experimental treatment is currently underway. The goal of the Retinal Implant Project is to develop a microelectronic prosthesis to restore some vision to patients with retinal disease. Six patients who were legally blind from retinitis pigmentosa participated in this trial. There were no signs of infection, rejection, detachment of the retina, or moving of the device. However, recovery of visual function was varied: some could see faces, some hand motions, and one who hadn’t been able to see even light could see light.
Low Vision Rehabilitation
Low Vision Rehabilitation focuses on helping patients with AMD find ways to maximize their remaining vision. It has helped thousands of AMD patients to maintain their independence and enhance their lifestyle. Among the low vision aids available to patients with AMD are special lenses and prisms; microscopes and telescopes; filters; non-optical devices such as talking clocks and wristwatches; electronic vision enhancers; and computers. Learning to use low vision aids requires patience and practice. Patients with AMD should consult with an eye care professional or low vision clinic that specializes in the selection and use of low vision aids.
What is amblyopia?
Also known as “lazy eye,” amblyopia is one of the most serious and most common threats to a child’s vision. Amblyopia is reduced vision – uncorrectable with glasses – in an eye that has not received adequate use during infancy or early childhood. Amblyopia affects about 3% of children in the United States.
What causes amblyopia?
Amblyopia has several causes. It can result from one eye being far-sighted and the other near-sighted. It can also result from a misalignment of a child’s eyes (strabismus) or from eyelid abnormalities, including ptosis (droopy lid) and hemangioma (elevated red lesion on the lid). In all cases, one eye becomes stronger as the brain blocks the image from the other eye.
Why is early detection important?
If amblyopia is not detected and treated in early childhood, the child may never learn to use the affected eye properly. Amblyopia can cause a permanent loss of vision and depth perception.
What treatments are available?
Before treating amblyopia, it may be necessary to first treat the underlying cause with glasses or surgery. Once the underlying cause is corrected, vision can be improved by patching therapy. This is where one eye is covered with an eye patch part of each day, for a period of time ranging from a few weeks to over a year. The better-seeing eye is patched, forcing the “lazy” one to work, in order to strengthen its vision. Medication, such as eye drops or ointment, is also an option. It can be used to blur the vision of the stronger eye in order to force the weaker one to work. At the Retina Foundation, Our Pediatrics Laboratory is currently using iPad games and movies to help the two eyes learn to work together. This method of treatment seems to be the most effective, but studies are still being conducted.
What is a cataract?
A cataract is an opacity in the lens of the eye. The lens sits behind the pupil and focuses light into the eye. The lens is normally crystal clear. If it is a small cataract, it may look like just a small cloudy spot in the middle of the pupil. These small cataracts do not usually have an impact on vision. Other cataracts can make the entire lens cloudy and prevent the lens from focusing images into the eye.
Congenital cataracts can be present in infants and small children and are almost always diagnosed by a pediatrician during the first few weeks or months of life. The pediatrician usually refers the child to a pediatric ophthalmologist for treatment. Cataract surgery is usually recommended very early in life, but this decision will depend on many factors, including the child’s overall health and whether there is a cataract in one or both eyes.
What causes cataracts in infants and young children?
Most often there is no identifiable cause, especially in cases of unilateral cataract (in one eye only). However, sometimes cataracts in infants and young children are associated with diseases and syndromes. The dominantly inherited type of cataract is almost always present in both eyes.
Cataracts in newborns
In a newborn infant, a dense cataract deprives the immature visual system of the stimulation it needs to develop normally. Removal of the cataract via surgical extraction of the lens is the most effective means of treatment for this type of cataract. After surgery, optical correction with a contact lens, glasses, or an intraocular lens replaces the focusing power of the lens that was removed from the eye. Detection of a dense congenital cataract during the first few weeks of life is important because clear vision is essential for early visual development. If the cataract is present in only one eye, visual rehabilitation depends on patching the healthier eye for several hours a day in early childhood. By covering the stronger eye after the cataract is removed, the brain is forced to use the eye that had a cataracts and thus re-start the vision development that was delayed while the brain was relying on the stronger eye. If the cataract is not removed early, the brain may fail to learn to use the eye and permanent visual impairment results.
What is Cone-Rod Dystrophy?
Cone-rod dystrophy (CRD) is a progressive retinal degenerative disease that results from a primary loss of cones, followed by a loss in rods. Cone photoreceptors are necessary for seeing in bright light, while rod photoreceptors allow for seeing in low light. Cone-rod dystrophy, like retinitis pigmentosa (RP) and Stargardt’s macular degeneration, is an inherited retinal degeneration. It is caused by mutations in many different genes associated with the photoreceptor cells and frequently leads to blindness.
What are the symptoms of Cone-Rod Dystrophy?
The earliest symptom of cone-rod dystrophy is loss of sight of color vision and visual acuity, both a result of loss of rod function. This is followed by nyctalopia (night blindness) and loss of peripheral visual fields, both due to loss of cone function. CRD is distinguished from other eye diseases because the rate of rod loss is approximately three times faster than the loss of cone function.
What is Leber Congenital Amaurosis?
Leber congenital amaurosis (LCA) is a rare, inherited retinal degenerative disease characterized by severe loss of vision at birth. A variety of other eye-related abnormalities including roving eye movements, deep-set eyes, and sensitivity to bright light also occur with this disease. Children with LCA account for 10-18% of all cases of congenital blindness.
What are the symptoms?
Individuals with LCA have very reduced vision at birth. Within an infant’s first few months of life, parents usually notice a lack of visual responsiveness and unusual roving eye movements, known as nystagmus. Although the retina may appear normal, electroretinography (ERG) tests can diagnose LCA.
Many children with LCA are extremely sensitive to light. They tend to press habitually on their eyes with their fists or fingers or have eyes that appear sunken or deep set. Keratoconus (cone shape to the front of the eye) and cataracts (clouding of the lens, the clear, glass-like structure through which light passes) have also been reported with this disease. In some cases, LCA is associated with central nervous system complications such as developmental delay, epilepsy, and motor skill impairment.
Is it an inherited disease?
LCA usually has an autosomal recessive pattern of inheritance, meaning both copies of the gene in each cell have mutations. The parents of an individual with LCA each carry one copy of the mutated gene, but they typically do not show signs or symptoms of the condition. If both parents are carrying the mutated gene, each of their children has a 25% chance of inheriting the two LCA genes (one from each parent) needed to cause the disorder. Although not as common, LCA can also be the result of new mutations and occur in people with no history of the disorder in their family.
What treatment is available?
There are currently no treatments for most types of LCA. Clinical trials of gene replacement therapy for LCA caused by mutations in the RPE65 are underway. It is the same therapy that gave vision to 50 dogs, including the world-famous Lancelot, born blind from LCA. These studies provide extraordinary promise for eradicating LCA caused by RPE65, and eventually, LCA caused by other genetic variations.
Some individuals with LCA, who have remaining vision, may also benefit from the use of low-vision aids, including electronic, computer-based and optical aids. Orientation and mobility training, adaptive training skills, job placement, and income assistance are available through community resources.
On June 2, 2015 Dr. Dennis Hoffman represented the Retina Foundation of the Southwest at Visions2015. To view his notes, click here. To learn more about fatty acids in cooking oils, click here. To educate yourself on DHA and Mercury levels in certain types of fish and seafood, click here. To learn about the antioxidant concentration in certain foods such as fruits, nuts, and vegetables, click here.
Support material for Dr. Hoffman’s presentation titled “Nutrition and Your Vision” on July 2, 2016 at the Foundation Fighting Blindness (FFB) Visions2016 meeting in Baltimore. He has provided a link to his 2016 notes, click here. A link to a spreadsheet listing the DHA content of numerous foods is given here, click here. A link to a 2010 list of antioxidant activity in 3100 foods/supplements can be found here (from M Carlsen et al. Nutrition Journal, 2010), click here. A list of ω6 and ω3 fatty acids in various foods (from Hibbeln et al. 2006, Am J Clin Nutr) is given here, click here.
What is Retinitis Pigmentosa?
Retinitis Pigmentosa (RP) is a group of diseases, typically a result of an inherited genetic abnormality. RP is characterized by gradual vision loss of peripheral and night vision.
RP blinds 100,000 to 200,000 people in the U.S. and impacts thousands more as family and relatives struggle to cope with this debilitating disease. It has been estimated that one out of every 80 people with RP carries a recessive gene for RP although neither they nor their children will ever have the disease.
What are the symptoms of RP?
The first symptom of RP is difficulty in seeing in the dark or in dim lighting due to the degeneration of rod photoreceptors. Loss of night-vision is followed by a progressive loss of peripheral vision which leads to increasing tunnel vision, legal blindness and, eventually, total blindness. At present there is no known cure for this most devastating genetic disease.
Patients with autosomal dominant and autosomal recessive RP are usually diagnosed with RP during early adulthood. Legal blindness for these persons is dependent on the type of genetic inheritance pattern; it occurs most often in the fourth to fifth decade of life. X-linked RP is the most severe form of the disease. Night-blindness begins between 5 and 15 years of age and X-linked RP patients typically become legally blind by their 20s.
Treating Retinitis Pigmentosa
At the present time there is no known cure for RP. The only known “treatment” is nutritional supplementation with vitamin A palmitate. Results from a six-year clinical study reported in June 1993 that patients who took 15,000 IU of vitamin A palmitate had a significantly lower rate (20% per year) of retinal degeneration than patients who did not take this supplement. It is important to note that vitamin A palmitate will not cure RP and that doses higher than 25,000 IU per day may be toxic and can cause liver disease. Because of an increased risk for birth defects, it is extremely important that women not take supplemental vitamin A if there is any chance of becoming pregnant.
Clinical trials are currently underway to see if dietary supplementation with docosahexaenoic acid (DHA) will slow the progression of the disease. Additional research is being done to evaluate the role of antioxidants on RP. It is hoped that additional nutritional treatments will be developed from these studies.
A clinical trial was recently completed using Neurotech’s Encapsulated Cell Technology (ECT) to deliver ciliary neurotrophic factor (CNTF) to eyes of visually impaired patients with retinitis pigmentosa (RP). The device was placed into the vitreous (a gel-like substance that helps the eye maintain a round shape) of patients with RP and allowed for sustained released of the drug. Results showed that CNTF can be safely delivered into the vitreous of patients with RP and that the implants were well tolerated by the patients. However, CNTF did not have any effect on the rate of vision loss compared to the fellow (untreated) eye.
Researchers are also working on gene therapy for RP. By delivering healthy genes or genetic information to cells affected by a gene mutation, it may be possible to overcome conditions that cause vision loss.
Retinal Transplants & Implants
Retinal cell transplantation studies in animals suggest that transplanting retinal pigment epithelial cells may slow or halt the progression of RP. But safety studies found that patients have had immune responses from donor cells. Current research is underway to develop methods to overcome these complications.
The goal of the Retinal Implant Project is to develop a microelectronic prosthesis to restore some vision to patients with retinal disease. The project is to develop a light-sensitive diode array that can be mounted on the retina. The person with the implant would wear a miniature electronic camera mounted in a unit resembling glasses. The camera would transmit images to the diode array in the retina. The diode would produce electrical signals that could be transmitted to the brain and interpreted as vision.
Low Vision Rehabilitation
Low Vision Rehabilitation focuses on helping patients with RP find ways to maximize their remaining vision. It has helped thousands of RP patients maintain their independence and has enhanced their lifestyle. Among the low vision aids available to patients with RP are special lenses and prisms; microscopes and telescopes; filters; non-optical devices such as talking clocks and wristwatches; electronic vision enhancers; and computers. Learning to use low vision aids requires patience and practice. Patients with RP should consult with an eye care professional or low vision clinic that specializes in the selection and use of low vision aids.
What is Stargardt Disease?
Stargardt Disease is a severe hereditary form of macular degeneration that begins in late childhood and leads rapidly to legal blindness. It is inherited as an autosomal recessive trait, and it affects approximately one in 10,000 children. Stargardt Disease can be identified by multiple yellow spots (lipofuscin) in and under the macula. The degeneration of one’s macula causes loss of central vision, hindering activities that require fine visual discrimination such as reading, recognizing faces, watching TV, and driving a car.
What are the symptoms of Stargardt Disease?
The first symptom of Stargardt Disease is typically always a loss of central vision and difficulty reading and seeing in dim or darkened lighting. In the early stages patients may have good visual acuity, but as time passes their ability to discern letters or numbers at various distances will decrease. Other common symptoms of Stargardt’s include blurred vision and seeing straight lines as crooked.
What is strabismus?
Strabismus is a misalignment of the eyes that is often referred to as “crossed eyes”. Strabismus is very common, affecting nearly 5% of all children to some extent.
What causes the misalignment?
Normally, six small muscles attached to each eye work together to keep the eyes aligned as your child looks around the world. Problems with the eye muscles or the nerves that control them may prevent your child’s eyes from working in parallel. The misalignment results from the failure of the eye muscles to work together. One eye or both eyes may turn in (crossed eyes), turn out, turn up, or turn down. Sometimes more than one of the “turns” is present.
If my child has strabismus, will the eyes always be misaligned?
The misalignment may be constant or it may come and go. You may also notice it only when your child is looking at things that are close by or only when your child looks off at something in the distance.
What should I do if I think that my child may have strabismus?
If you notice that your child’s eyes are not aligned, talk to your pediatrician about whether your child should be examined by a pediatric ophthalmologist. It is critical to diagnose and treat strabismus as soon as possible after its onset. Otherwise, the child may develop amblyopia (lazy eye) and permanently disrupt binocular vision. Prompt medical attention is recommended for another reason, too. Rarely, strabismus may be the first sign that the child has a more serious health problem, such as a tumor.
Isn’t strabismus the same thing as lazy eye?
No, lazy eye is amblyopia, which is reduced vision in one eye, but strabismus is misalignment of the eyes. It can be confusing because strabismus can cause amblyopia. If a child prefers to use one eye while the other eye turns in most of the time, the brain blocks the images from the eye that is turned in and vision is reduced in that eye.
What is pseudostrabismus?
Some infants may appear to have strabismus when they actually do not because they have a wide fold of skin on either side of the nose or a broad nose bridge. Pseudostrabismus disappears as the face grows. It is easy for a pediatric ophthalmologist to tell whether your child has strabismus or pseudostrabismus.
What is Usher Syndrome?
Usher Syndrome is a genetic disorder with hearing loss and a progressive loss of vision resembling retinitis pigmentosa (RP). Some individuals also have balance problems. There are three types of Usher Syndrome:
Type 1: born with a profound hearing loss, a form of retinitis pigmentosa, and balance problems.
Type II: born with moderate to severe hearing loss, a form of retinitis pigmentosa, and no balance problems.
Type III: hearing loss that gets worse over time, a form of retinitis pigmentosa, and may have balance problems that also seem to get worse with age.
Individuals with Type I Usher Syndrome have a profound hearing loss in all frequencies and are considered to be deaf from birth or shortly thereafter. These persons usually have poor speech. Persons with profound hearing loss may be candidates for cochlear implants.
Individuals with Type II Usher Syndrome have a moderate hearing loss in the lower frequencies. In the higher frequencies it is severe or profound. The loss does not usually get worse as the person ages. These persons are considered to be hard-of-hearing and usually find hearing aids to be useful.
Type III Usher Syndrome typically begins before a person reaches the age of 30. Characteristics include progressive hearing loss and balance issues that get significantly worse as the person ages.
Retinitis Pigmentosa (RP)
RP is the name given to a group of eye diseases that causes gradual loss of vision. Those affected become less able to see in low light, resulting in night blindness. As RP progresses, the field of vision narrows until only central vision remains. This is called “tunnel vision”. Many persons with Usher Syndrome will retain at least some central vision.
There are three senses we use to keep our balance: vision (we see where we are), proprioception (we feel the position of our bodies and limbs), and vestibular (we feel changes in speed and direction). The vestibular system is part of the inner ear.
Persons with Type I have a vestibular system that does not work. Persons with Usher Type I usually do not learn to walk until they are between 18 and 24 months old. They cannot feel changes in speed or direction and as their vision decreases, their visual balance system becomes less reliable.
Persons with Type II have a normal vestibular system but their visual system also becomes less reliable as their vision decreases. Persons with Type II usually learn to walk around the age of 12 months.
There is not sufficient information about the vestibular system in persons with Type III, but it seems to get worse with age.
What causes Usher Syndrome?
Usher Syndrome is a recessive genetic condition. If both mother and father are carriers of the changed gene that results in Usher Syndrome, they could have children with Usher Syndrome. If the child receives the changed gene from each parent, that child will have one of the three types of Usher Syndrome. It is estimated that about 1 in every 75 people carry an Usher gene, but most do not know they carry the gene.
If two persons with Usher Syndrome (caused by different genes; for example Usher Type 1b and Usher Type 1d) marry, there is no evidence any of their children will have Usher Syndrome but all of their children will be carriers for both types. In the case of our example, they would each receive one mutation for Type 1b and one for Type 1d.
Kaylie Jones can provide additional information if you are interested. That information will be tailored to your situation and needs.
What is X-linked retinoschisis?
X-linked retinoschisis is a macular degeneration that begins in childhood and occurs almost exclusively in males. The disease is caused by a mutation in their RS1 (Retinoschisin) gene and occurs in 1 in 5,000 – 25,000 men worldwide. Decreased childhood and adolescent visual acuity stabilizes throughout adulthood until age 50 or 60 when it declines significantly.
Other features that may occur with XLRS are strabismus, hyperopia, nystagmus, retinal detachment, or vitreous hemorrhage. The only treatment options are to address secondary problems such as low vision aids. Some patients responds well to eye drops to reduce swelling in the retina.The Retina Foundation of the Southwest is currently conducting a gene therapy study for the treatment of X-linked retinoschisis (XLRS).
To date, there are no approved treatments for XLRS.
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