Retinitis pigmentosa

Retinitis pigmentosa is a term that describes a group of conditions that cause retinal degeneration leading to progressive vision loss and often blindness. There are nonsyndromic, syndromic, and systemic forms of retinitis pigmentosa. The syndromic and systemic forms affect not only the eyes and vision, but also other systems such as hearing, the heart, etc. Nonsyndromic forms of retinitis pigmentosa affect only the vision and eyes. Nonsyndromic forms of retinitis pigmentosa are not lethal. Some syndromic and systemic forms of retinitis pigmentosa may cause other life-threatening problems that could limit a person’s life span. For more on the life expectancy of syndromic or systemic forms of retinitis pigmentosa, search the specific diagnosis in question.

Individuals with nonsyndromic retinitis pigmentosa typically do not have significantly shortened life spans as compared to the average, unaffected individual. The vision loss associated with this disease could lead to complications or injuries that could affect an individual’s life span, but overall, life expectancy in individuals with nonsyndromic retinitis pigmentosa is normal.

Once an individual in a family has been diagnosed with retinitis pigmentosa, relatives may be concerned about whether they too will develop this condition and therefore may desire testing for retinitis pigmentosa. The risk for relatives of an affected individual to develop retinitis pigmentosa depends on the specific genetic cause of retinitis pigmentosa in the family. This may be determined through evaluation of the family history by a genetic counselor or other medical genetic specialist, or by abnormal genetic test results in an affected individual. Because there are many ways in which retinitis pigmentosa can be inherited, and because in many cases the cause is unknown, it can be difficult to determine which relatives, if any, are also at risk. For this reason, consultation with a genetic counselor can help answer these questions. To find a genetic counselor in your area, go to the search page on the National Society of Genetic Counselors website.

Online support groups are a good way to meet and connect with other individuals with retinitis pigmentosa and their family members and loved ones. The following are online support groups that may offer such opportunities:

Retinitis pigmentosa is a complex medical condition, the management and treatment of which should involve several specialists. These often include:

Retinitis pigmentosa is a term that describes a group of genetic conditions that cause loss of vision. Retinitis pigmentosa primarily affects the back wall of the eye which is known as the retina. The retina allows the eye to respond to light. Within the retina are specific types of cells known as "photoreceptors" or "rods and cones", as well as a layer of cells known as the "retinal pigment epithelium." The genetic changes that cause retinitis pigmentosa affect either the photoreceptors or the retinal pigment epithelium, leading to death of cells within the retina, causing progressive vision loss and often ending in blindness.

There are several different types of retinitis pigmentosa, each of which is associated with a different gene change and the forms of retinitis pigmentosa can be inherited in several different manners. Retinitis pigmentosa can be considered either "nonsyndromic", meaning that only the vision system is affected; "syndromic", meaning other neurologic functions, such as hearing, are also affected; or "systemic", meaning that multiple body systems are affected. Generally, however, the term "retinitis pigmentosa" is used to describe nonsyndromic forms of the condition, whereas the syndromic and systemic forms are typically referred to by their specific diagnosis name.

Unfortunately, there is no cure for retinitis pigmentosa; however, there are treatments which may slow the progression of the disease. Researchers are working to identify new treatments and potentially even a cure through something known as gene therapy. While this cure may be some way off, there is a great deal of support available to affected individuals. More information on living with retinitis pigmentosa can be found here. A review of retinitis pigmentosa written for physicians and others interested in a medical/scientific discussion can be found here.

In general, adults with retinitis pigmentosa can live fulfilling and typical lives. People with the nonsyndromic forms of this condition do not have non-vision-related complications, so they can expect to have good health, and because they do not have problems with thinking or learning, they can successfully seek higher education and have a wide variety of careers. Nonetheless, their condition can affect their quality of life and their experiences. Some adults with retinitis pigmentosa describe having increased social problems, and may have increased anxiety or depression due to worry about their disease progression.

As the disease progression, adults may find their work becoming increasingly difficult. Nonetheless, working with their employers and outside service agencies, they should be able to adapt things to allow them to continue to work in their field of choice. In some cases, however, depending on the field in which they are employed, a career change may be necessary. Most states have agencies dedicated to serving the vision-impaired and blind that can help individuals and employers work together to allow the individual continue to work. It is also important to realize that the American Disabilities Act protects individuals with disabilities, including retinitis pigmentosa-associated vision loss or blindness, from being discriminated against in the workplace and elsewhere.

In many cases, in later adulthood, when the disease has progressed sufficiently, work outside the home may no longer be an option. In this case, applying for disability benefits may be required. To apply for disability benefits, one may contact her or her local Social Security agency, or alternatively can apply online at their website.

The main health problems associated with retinitis pigmentosa depends on the type in question. The term "retinitis pigmentosa" actually describes a group of conditions that can be divided into nonsyndromic, syndromic and systemic forms. Nonsyndromic forms affect only vision. Syndromic forms affect vision as well as other neurologic functions, such as hearing. Systemic forms of retinitis pigmentosa affect multiple body systems. Syndromic and systemic forms of retinitis pigmentosa are typically viewed as distinct from the nonsyndromic forms and are not typically called by the name "retinitis pigmentosa". Instead retinitis pigmentosa is considered one symptom of the specific diagnosis. To learn more about the different forms of syndromic and systemic retinitis pigmentosa, review the "Differential Diagnosis" section of the Gene Review on retinitis pigmentosa.

In regards to the main health problems associated with nonsyndromic retinitis pigmentosa, they are solely restricted to vision. Retinitis pigmentosa is a progressive disease. The first sign of retinitis pigmentosa is typically increasingly poor vision at night and in low light ("nyctalopia"). As the disease progresses, affected individuals typically experience light sensitivity ("photophobia"), tunnel vision (due to loss of peripheral vision), and blurred vision. Eventually, most individuals with retinitis pigmentosa will become partially or totally blind. Many individuals with retinitis pigmentosa also develop cataracts which may require surgical removal.

For more detailed information about the symptoms of retinitis pigmentosa, you should consider talking with your doctor or consulting with a genetic counselor. To find a genetic counselor in your area, go to the search page on the National Society of Genetic Counselors website.

Retinitis pigmentosa is a term which describes a group of conditions, each with its own distinct genetic cause. There are more than 60 genes alone that cause non-syndromic retinitis pigmentosa, with an additional dozens of genes causing the syndromic and systemic forms of retinitis pigmentosa. Each of these genes provides instructions for making proteins that allow the retina, the area of the eye that responds to light, to function properly. Changes in any of these genes can cause the proteins to be made improperly or not at all, leading to damage to the retina. A list of genes associated with non-syndromic retinitis pigmentosa can be found in the Gene Review for this condition.

Although the diagnosis of retinitis pigmentosa can be made clinically based on visual examination and history without genetic testing, genetic testing can be used to confirm the diagnosis in an individual with symptoms suspicious for the disorder. Many individuals with a clinical diagnosis of retinitis pigmentosa have no genetic change identifiable by current genetic testing methodologies. A smaller number of affected individuals are found to have a change in the spelling of one of the genes associated with retinitis pigmentosa, but it is unknown whether the specific gene change found would cause disease, and so the genetic test result is not conclusive. This is known as a "variant of unknown significance".

We all have differences in the way our genes are spelled (gene variants). In many cases, these spelling changes do not appear to change the protein that the gene produces and therefore do not seem to lead to any health or developmental problems. Some changes, though, can alter the way a gene works, leading to an abnormal protein product being made. When this happens, a disease can occur. There are several changes that have been identified in the 50+ genes associated with retinitis pigmentosa that are known to cause the disorder. In other cases, however, a variant of unknown significance is found, the effect of which, if any, is unknown.

When a person who is suspected to have retinitis pigmentosa has genetic testing and a variant in one of those genes is found, we can not be sure whether that gene change is the cause of the symptoms that person has. If the person had enough symptoms to allow for the diagnosis of retinitis pigmentosa to be made clinically, the finding of a variant will likely not lead to the doctor changing or removing the diagnosis. Over time, as more people have genetic testing for the condition, unclear gene variants may be reclassified as disease-causing if identified in enough affected individuals, or benign if identified in enough unaffected individuals.

It is also possible that a person with signs of retinitis pigmentosa but with only a variant identified on genetic testing may have a change or changes in other genes that have not yet been identified as being associated with the disease. Over time, we may identify more genes that cause retinitis pigmentosa, leading to more extensive genetic testing for this condition to be possible.

If you have questions about what it means to have a variant of unknown significance in a gene associated with retinitis pigmentosa, talk to your doctor or contact a genetic counselor. To find a genetic counselor in your area, go to the search page on the National Society of Genetic Counselors website.

There are nonsyndromic, syndromic, and systemic forms of retinitis pigmentosa. Nonsyndromic forms of the condition affect only the vision. Syndromic forms affect vision as well as other neurologic functions, such as hearing in Usher syndrome. Systemic forms affect vision as well as other body systems, such as the reproductive system or the skeletal system as in Bardet-Biedl syndrome. To learn about the symptoms other than vision issues associated with syndromic or systemic forms of retinitis pigmentosa, search the specific diagnosis name in the search box at Genetics Home Reference.

There are many different forms of nonsyndromic retinitis pigmentosa. The age of onset and speed of disease progression vary among the various forms; however, the signs themselves are relatively similar across all forms. The first sign of retinitis pigmentosa is typically increasingly poor vision at night and in low light ("nyctalopia"). As the disease progresses, affected individuals typically experience light sensitivity ("photophobia"), tunnel vision (due to loss of peripheral vision), and blurred vision. Eventually, most individuals with retinitis pigmentosa will become partially or totally blind. Many individuals with retinitis pigmentosa also develop cataracts which may require surgical removal.

For more detailed information about the symptoms of retinitis pigmentosa, you should consider talking with your doctor or consulting with a genetic counselor. To find a genetic counselor in your area, go to the search page on the National Society of Genetic Counselors website.

Getting a diagnosis of retinitis pigmentosa can be scary and overwhelming. Because the disease is progressive, most people worry about how quickly their vision will be lost and whether they will ultimately become blind. Worries about if or when a person might have to stop driving, might need assistance with day-to-day living, and other complications are also common. It is important to remember that everyone’s disease course is different and there is no way to predict exactly how the disease will progress. Nonetheless, it is important that after diagnosis, affected individuals seek consultation with an expert in the disease such as an ophthalmologist. Together they can make a plan for how frequently and in what ways the disease can be monitored. Additionally, this will make sure that the individual says up-to-date on new therapies, research, and other information pertinent to the diagnosis. It may also be helpful to join a support group for individuals with retinitis pigmentosa. A list of online support groups for retinitis pigmentosa can be found here. Additionally, Vision Aware and the American Foundation for the Blind also have resources to help individuals understand and cope with their diagnosis.

There is no newborn screening for retinitis pigmentosa. It should be noted that the age of onset of vision disturbance in retinitis pigmentosa is typically between the ages of 10-40; however, rarely earlier onset can be observed. Nonetheless, onset of visual disturbances in the newborn period are more likely indicative of a more severe or different disorder. If you suspect visual disturbance in your newborn, talk to your pediatrician about having your child evaluated as soon as possible. If you are concerned about your newborn having inherited retinitis pigmentosa due to a family history of this condition, speak with your pediatrician about how and when your child should be evaluated. You may also consider making an appointment with a genetic counselor. To find a genetic counselor in your area, go to the search page on the National Society of Genetic Counselors website.

While there is more than one test for retinitis pigmentosa, the condition is typically diagnosed after evaluation by a specialist, typically an ophthalmologist. This evaluation includes a review of the individual’s medical history, especially the history of vision problems, as well as visual acuity tests (typical examinations by an eye doctor to assess an individual’s ability to see at distances, peripheral vision, vision in low light, etc.). The diagnosis is typically made after electroretinography (ERG) shows progressive loss in the function of the rods and cones. ERG is performed by placing electrodes on or around the eye and measuring the electrical responses of various cells in the retina. This procedure is performed on an outpatient basis and is painless. For more information on the ERG test, review this web page.

Once an individual has been diagnosed with retinitis pigmentosa, he or she should continue to be evaluated by a specialist to monitor the progression of the disease and to remain up-to-date on therapies available to slow the progression of the disease.

Genetic testing can be performed to confirm the diagnosis of retinitis pigmentosa or to determine the genetic cause, and therefore the inheritance pattern and risk to other family members, for a particular affected individual. This testing is most often performed on an individual who has already been diagnosed clinically with the condition, but can be performed on someone before he or she shows signs, if that individual has one or more known affected family members and the specific genetic cause of retinitis pigmentosa has been identified in one or more of those affected family members. If an individual is found to carry the gene change that causes retinitis pigmentosa in their family, but that individual has not yet shown signs of the disease themselves, they can expect to develop symptoms of the disorder at some point. Nonetheless, an abnormal genetic test result cannot determine at what age the person’s symptoms will begin, nor can it determine the speed at which the disease will progress. If, however, an individual is found not to carry the causative gene change that an affected family member carries, that individual can essentially rule out the possibility that he or she will develop retinitis pigmentosa during their lifetime.

If you wish to obtain more information about the specific testing for retinitis pigmentosa, talk with your doctor and consider making an appointment with an ophthalmologist. If you wish to obtain more information about genetic testing for retinitis pigmentosa, consider making an appointment with a genetic counselor. To find a genetic counselor in your area, go to the search page on the National Society of Genetic Counselors website.

There are many researchers interested in learning more about retinitis pigmentosa, including research on treatments and even possible cures. Research to Prevent Blindness has a great deal of information on research in regards to eye diseases, including a page dedicated to information about research on retinitis pigmentosa. Additionally, as of October 2016, ClinicaTrials.gov lists several ongoing research projects in regards to retinitis pigmentosa.

Some of the particular areas of focus in regards to research on retinitis pigmentosa and related degenerative eye diseases include:

Retinitis pigmentosa is typically abbreviated as RP.

Although there is not a cure for retinitis pigmentosa, there are treatments. The main treatment for most forms of retinitis pigmentosa is vitamin A therapy. Specifically, high doses (15,000 IU per day) of vitamin A in the form of vitamin A palmitate is recommended. Studies have shown that this may slow retinal degeneration in individuals with most forms of retinitis pigmentosa, but does not show that it improves overall vision in these individuals. It should be noted that this therapy is not recommended for:

Not all individuals who inherit a gene change that causes retinitis pigmentosa will show signs of the condition. While most individuals with retinitis pigmentosa have affected family members, there are cases where there is only a single occurrence of the condition within a family. These are known as "simplex" cases. One explanation for a simplex case is that the causative gene change was passed from a parent to his or her child but while the child displays signs of the condition, the parent remains without symptoms. This is known as "incomplete penetrance", where the gene change is present but does not cause disease in all individuals that have it.

Anyone who thinks they or their family member may have retinitis pigmentosa should consult with an expert in conditions involving vision problems, such as an ophthalmologist. Additionally, it may be helpful to consult with a genetic counselor. To find a genetic counselor in your area, go to the search page on the National Society of Genetic Counselors website.

Retinitis pigmentosa is a term that describes a group of inherited progressive retinal diseases. As of October 2016, all forms of retinitis pigmentosa are thought to be caused by genetic changes. This may or may not mean that the gene changes were inherited. There are a subset of cases of retinitis pigmentosa that are known to be "simplex". Simplex cases of retinitis pigmentosa are those that are the first and only known occurrence within a family. Even within simplex cases, however, a genetic cause is often identified and or assumed to be the cause. It should be noted that there are some vision disorders that can mimic some of the symptoms of retinitis pigmentosa that are not inherited. For example, certain toxic drug reactions, eye disturbances due to syphilis, infections, complications secondary to cancer, and ophthalmic artery blockages can cause vision loss similar to that experienced in retinitis pigmentosa. These can be readily differentiated from retinitis pigmentosa after evaluation by a specialist.

Over 60 forms of nonsyndromic retinitis pigmentosa have been identified and dozens of genes associated with this condition. The different forms of nonsyndromic retinitis pigmentosa can be inherited in basically every manner in which diseases are known to be inherited: autosomal recessive (5-20% of cases), autosomal dominant (15-25% of cases), X-linked (5-15% of cases), mitochondrial (rare), and digenic (also rare). It should also be noted that 10-50% of cases are known to be simplex, and the underlying genetic cause in these cases is often unknown, making the form of inheritance in these cases uncertain.

Forms of inheritance:

Retinitis pigmentosa is a term that describes a group of conditions that cause retinal degeneration leading to progressive vision loss and often blindness. There are nonsyndromic, syndromic, and systemic forms of retinitis pigmentosa. The syndromic and systemic forms affect not only the eyes and vision, but also other systems such as hearing, the heart, etc. Nonsyndromic forms of retinitis pigmentosa affect only the vision and eyes. Some syndromic and systemic forms of retinitis pigmentosa may cause othermedical problems that could affect a woman’s fertility or the health of a pregnancy she might carry. For more on pregnancy for women with syndromic or systemic forms of retinitis pigmentosa, search the specific diagnosis in question.

Women with nonsyndromic retinitis pigmentosa can expect to have normal fertility and therefore can become pregnant. Nonetheless, pregnancy in these women should be managed and monitored by individuals familiar with the complexities that can arise. First, it is important to know that the common treatment for retinitis pigmentosa, high dose vitamin A palmitate supplementation, is to be avoided during pregnancy. This is because vitamin A palmitate can have adverse effects on a developing baby. Second, it has been noted that 5-10% of women with retinitis pigmentosa experience increased vision loss during pregnancy. This may or may not recover after the woman delivers her baby. Additionally, pregnancy may increase a woman’s chance to develop eye complications such as retinopathy.

Women with retinitis pigmentosa considering pregnancy or who are pregnant should consider seeking consultation with a high-risk obstetrician known as a maternal-fetal-medicine as well as a genetic counselor. To find a genetic counselor in your area, go to the search page on the National Society of Genetic Counselors website.

There are over 60 genes which have been associated with non-syndromic retinitis pigmentosa. Each of those genes provides instructions for making proteins that allow the retina, the area of the eye that responds to light, to function properly. Specifically, these genes help build the photoreceptors ("rods and cones") and the layer of cells known as the "retinal pigment epithelium." Rods are the cells in the retina which respond to light and dark changes and are responsible for vision when there is not much light present. Cones are the cells in the retina which respond to color and are responsible for vision where there is a lot of light present. The retinal pigment epithelium is responsible for light absorption, nourishment of the retina, and immune function of the eye.

Changes in any of the genes associated with retinitis pigmentosa can cause proteins essential to the photoreceptors and/or the retinal pigment epithelium to be made improperly or not at all. This can lead to death of the photoreceptor cells, causing progressive loss of both rods and cones. The rods typically are affected first, causing night blindness to be the first symptom of retinitis pigmentosa, with the cones being lost subsequently and thus day vision being disrupted later.

There are an entirely different set of genes associated with syndromic and systemic forms of retinitis pigmentosa. Those genes cause not only retinitis pigmentosa, but other neurologic problems such as hearing loss and/or problems in other organ systems such as heart disease. These conditions are typically not called by the name "retinitis pigmentosa" and instead retinitis pigmentosa is considered one symptom among others associated with that particular diagnosis. For information about how the genes associated with a specific syndromic or systemic form of retinitis pigmentosa cause that disease, search the specific diagnosis name (such as "Bardet-Biedl syndrome" or "Usher syndrome") in the search box at Genetics Home Reference.

There are several options for donating to research on retinitis pigmentosa, as well as to help advocate for affected individuals. Below is a list of several non-profit organizations who are dedicated to these causes:

Retinitis pigmentosa is diagnosed through evaluation by a specialist, typically an ophthalmologist. This evaluation includes a review of the individual’s medical history, especially the history of vision problems, as well as visual acuity tests (typical examinations by an eye doctor to assess an individual’s ability to see at distances, peripheral vision, vision in low light, etc.). The diagnosis is typically made after electroretinography (ERG) shows progressive loss in the function of the rods and cones. ERG is performed by placing electrodes on or around the eye and measuring the electrical responses of various cells in the retina. This procedure is performed on an outpatient basis and is painless. For more information on the ERG test, review this web page.

Genetic testing can be performed to confirm the diagnosis of retinitis pigmentosa or to determine the genetic cause, and therefore the inheritance pattern and risk to other family members, for a particular affected individual. This testing is most often performed on an individual who has already been diagnosed clinically with the condition, but can be performed on someone before he or she shows signs, if that individual has one or more known affected family members and the specific genetic cause of retinitis pigmentosa has been identified in one or more of those affected family members. If an individual is found to carry the gene change that causes retinitis pigmentosa in their family, but that individual has not yet shown signs of the disease themselves, they can expect to develop symptoms of the disorder at some point. Nonetheless, an abnormal genetic test result cannot determine at what age the person’s symptoms will begin, nor can it determine the speed at which the disease will progress. If, however, an individual is found not to carry the causative gene change that an affected family member carries, that individual can essentially rule out the possibility that he or she will develop retinitis pigmentosa during their lifetime.

If you wish to obtain more information about the specific testing used to diagnose retinitis pigmentosa, talk with your doctor and consider making an appointment with an ophthalmologist. If you wish to obtain more information about genetic testing for retinitis pigmentosa, consider making an appointment with a genetic counselor. To find a genetic counselor in your area, go to the search page on the National Society of Genetic Counselors website.

There are several resources available to help identify new and ongoing research in regards to retinitis pigmentosa. ClinicalTrials.gov is an up-to-date site that identifies such research projects. To look for research on retinitis pigmentosa, search the term "retinitis pigmentosa" in the search box.

Another good source of information in regards to ongoing research on retinitis pigmentosa is through support groups for the condition. The Foundation Fighting Blindness maintains a page on their website devoted to information about retinitis pigmentosa. Research to Prevent Blindness also maintains a web page devoted to research on retinitis pigmentosa.

If you are interested in being a part of a clinical research trial, it is important that you talk to your doctor and family or friends to determine if it’s right for you. For more information about individual studies, your doctor can contact the research team listed on a particular study’s page.

There are several centers of excellence and specialized clinics that treat individuals with retinitis pigmentosa. These centers involve not only ophthalmologists, but also often medical geneticists, genetic counselors, nurses, social workers and other specialists who work as a team to answer your questions, discuss testing, develop a comprehensive evaluation and treatment plan for you, and help identify your at-risk family members. The center of excellence will work with your current doctors to organize the treatment, tests, and specialists you need.

As of October 2016, there are several centers of excellence that serve patients with retinitis pigmentosa and other retinal diseases. These centers include, but are not limited to:

Retinitis pigmentosa is considered a rare disorder, but is still the most common inherited form of vision loss (not counting age-related macular degeneration and glaucoma, the genetics of which are more complex than in retinitis pigmentosa). The nonsyndromic forms of retinitis pigmentosa occur in about 1 in every 3,000 to 7,000 individuals. If all forms of retinitis pigmentosa are combined, including the syndromic and systemic forms, the frequency would likely be higher than 1 in 3,000 individuals. It is estimated that as many as 100,000 people in the United States, and as many as 2 million people worldwide, are affected with retinitis pigmentosa.

When a child has been diagnosed with retinitis pigmentosa, it is normal for them to feel scared, angry, or overwhelmed about what their future holds. It is important for family members to have open, honest discussions with the child to help him or her get their feelings out and start to cope with the diagnosis. It may be helpful to get advice from experts about how to have these conversations and how best to support the child. This could involve physicians, social workers, or mental health professionals. It is important to let the child know that although there is no cure for retinitis pigmentosa now, scientists are working hard to try to find new ways to treat the condition and slow its progress. Furthermore, many researchers believe that a cure may be possible in the not-too-distant future. Nonetheless, it is also important to let the child know that even without a cure, individuals with retinitis pigmentosa can live almost completely independently well into later adulthood and that the condition itself does not significantly limit a person’s ability to go to school, have a family, or choose a career.

As the child grows and their vision loss progresses, they will likely need extra help at school. It is important that parents of a child with retinitis pigmentosa involve all of the child’s teachers as well as school administrators in planning for how best to adapt that child’s learning environment. Sitting closer to the front of the class, using aids such as a magnifier or certain technology to enlarge print, and assistance navigating around the classroom and elsewhere at school are just a few things that can help. A yearly individual education plan (IEP) is recommended to make sure the child, his or her family, and school officials have an agreement upon how to meet the child’s needs appropriately.

Most teachers and school officials will not be familiar with the diagnosis of retinitis pigmentosa. Therefore, asking your child’s doctor to give you some helpful information to share with them, or providing them with an informational packet such as this one, from the University of Michigan Kellogg Eye Center, may help school personnel understand the important details of this condition.

Retinitis pigmentosa is inherently a degenerative disease. This means that it gets worse naturally over time. The age at which symptoms onset and the speed of disease progression depends on the specific type of retinitis pigmentosa that a person has. Nonetheless, it is recommended that individuals with retinitis pigmentosa avoid high-dose vitamin E supplements (≥400 IU per day). A study in 1993 showed that individuals taking these higher daily doses of vitamin E have faster disease progression than those who had no supplemental vitamin E or who took small supplementary amounts. To read more about this study you can access the summary of the journal publication here.

Retinitis pigmentosa is a progressive disease, often leading to blindness some time in adulthood. Nonetheless, most individuals with retinitis pigmentosa can maintain relatively independent lifestyles into late adulthood. It should be noted that there are syndromic and systemic forms of retinitis pigmentosa that affect not only a person’s vision, but other things such as hearing, learning, heart health, etc. Therefore, individuals with syndromic or systemic forms of retinitis pigmentosa may have additional issues that affect their ability to live independently.

In order to maintain independence, individuals with retinitis pigmentosa often find it helpful to seek support from organizations that provide vocational, mobility and independent life skills training. This training can help affected individuals navigate their homes and the outside world safely and independently, teaching them how to adapt their environment as necessary to maintain their ability to do every things such as cooking, self-hygiene, and housekeeping.

It is possible in some cases to diagnose or rule out retinitis pigmentosa in a baby during pregnancy. This is typically only done when the baby is known to be at significant risk for the disease based on a history of the condition in one of the parents and/or another close family member. In order to test the baby, however, the causative gene change needs to have been identified in the affected family member(s). It is important to speak with a genetic counselor about what the chances are for the baby to inherit that gene change as well as the benefits, risks and limitations of any testing procedures, such as amniocentesis and chorionic villus sampling. To find a genetic counselor in your area, go to the search page on the National Society of Genetic Counselors website.

The term retinitis pigmentosa describes a group of inherited conditions that affect the retina and cause progressive vision loss. There are no other terms that can be interchanged with the term "retinitis pigmentosa", although there terms such as "pigmentary retinopathy", "rod-cone dystrophy", and "tapetoretinal degeneration" which can describe specific processes that lead to vision loss in particular forms of retinitis pigmentosa. Nonetheless, there are many diagnoses which fall under the category of retinitis pigmentosa. The names of these diagnoses may be used instead of the umbrella term "retinitis pigmentosa" when describing a particular person’s condition.

There are many conditions that share features with retinitis pigmentosa. It is also important to remember that several diagnoses include retinitis pigmentosa as a symptom, but that in those conditions, known as syndromic and systemic retinitis pigmentosa, there are effects to areas other than the eye and therefore more than just vision is impacted. The most common syndromic retinitis pigmentosa condition is Usher syndrome, which also causes hearing loss. The most common systemic retinitis pigmentosa condition is Bardet-Biedl syndrome, which is also associated with obesity, extra fingers or toes ("polydactyly"), cognitive disabilities and abnormal genitalia. It should also be noted that some metabolic (e.g. Refsum syndrome and congenital disorders of glycosylation type 1a) and mitochondrial disorders (e.g. MELAS and MERRF) are associated with vision problems similar to those seen in retinitis pigmentosa, but they also typically involve learning difficulties, abnormal facial features, dementia and/or other neurologic issues.

There are several conditions which affect the vision and eyes only, similar to nonsyndromic retinitis pigmentosa. Their features can overlap somewhat with retinitis pigmentosa, but there are distinct features that help differentiate them:

Retinitis pigmentosa almost uniformly presents with decreasing night vision followed by loss of peripheral vision. Additionally, the finding of bone spicule formation on imaging of the back of the dilated eye, which is identified when the retinal pigment epithelium has a mottled appearance, is something that is seen almost solely in retinitis pigmentosa; however, this is often not identified until the later stages of disease progression.

If you notice that you or someone in your family has any symptoms suspicious for retinitis pigmentosa, talk to your doctor about the best way to get testing or further evaluation in your area. Alternatively, you could contact a genetic counselor in your area to ask questions and obtain help arranging such evaluation. To find a genetic counselor in your area, go to the search page on the National Society of Genetic Counselors website.

There are several support groups that help individuals with retinitis pigmentosa and other conditions that cause retinal degeneration and/or blindness. A few such groups are:

As of October 2016, all forms of retinitis pigmentosa are thought to be caused by genetic changes. Nonetheless, there are some vision disorders that can mimic some of the symptoms of retinitis pigmentosa that are not inherited. For example, certain toxic drug reactions, eye disturbances due to syphilis, infections, complications secondary to cancer, and ophthalmic artery blockages can cause vision loss similar to that experienced in retinitis pigmentosa. These can be readily differentiated from retinitis pigmentosa after evaluation by a specialist. An ophthalmologist is a specialist who can typically perform these evaluations. If you have questions about this, talk to your doctor about being evaluated or being referred to a specialist.

There are many different forms of retinitis pigmentosa. The term "retinitis pigmentosa" actually describes a group of conditions that cause progressive retinal disease. Retinitis pigmentosa can be divided into nonsyndromic, syndromic and systemic forms. Nonsyndromic forms affect only vision. Syndromic forms affect vision as well as other neurologic functions, such as hearing. Systemic forms of retinitis pigmentosa affect multiple body systems. Syndromic and systemic forms of retinitis pigmentosa are typically viewed as distinct from the nonsyndromic forms and are not typically called by the name "retinitis pigmentosa". Instead retinitis pigmentosa is considered one symptom of the specific diagnosis. To learn more about the different forms of syndromic and systemic retinitis pigmentosa, review the "Differential Diagnosis" section of the Gene Review on retinitis pigmentosa.

Within the category of nonsyndromic retinitis pigmentosa, there are many subtypes. The subtypes are differentiated based on the specific gene involved, the mode of inheritance, the age of onset, the speed of progression and the severity of the condition. In general, however, all of these subtypes are combined into the overarching diagnostic name of "retinitis pigmentosa". To view a list of different genes associated with and the various inheritance forms of nonsyndromic retinitis pigmentosa, review the "Causes" section of the Gene Review on retinitis pigmentosa.

Finally, there is a condition known as "unilateral retinitis pigmentosa". This describes a condition where the typical vision loss and changes associated with retinitis pigmentosa are present, but in one eye only. The cause of unilateral retinitis pigmentosa is unknown, and can be difficult to differentiate from non-inherited retinal diseases such as retinal damage due to trauma, infection, or drug toxicity.