Retinitis pigmentosa

Symptoms

What are the signs and symptoms of retinitis pigmentosa?

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.

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If you have retinitis pigmentosa will you always show symptoms?

Are there different types of retinitis pigmentosa?

What health problems should I look for in retinitis pigmentosa?

Are there other diseases that look a lot like retinitis pigmentosa?

Are there one or two characteristic symptoms of retinitis pigmentosa?

If you have retinitis pigmentosa will you always show symptoms?

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.

Are there different types of retinitis pigmentosa?

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.

What health problems should I look for in retinitis pigmentosa?

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.

Are there other diseases that look a lot like retinitis pigmentosa?

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:

  • gyrate atrophy of the choroid and retina: this condition is characterized by progressive vision loss due to ongoing death (atrophy) of cells in the retina. The first signs of the condition are nearsightedness, night blindness and loss of peripheral vision. This progresses to tunnel vision and cataracts, ultimately leading to blindness around the age of 50. While the features are similar to retinitis pigmentosa, gyrate atrophy of the choroid and retina has a somewhat different presentation and progression, and can be easily differentiated due to the presence of elevation in the blood of a substance known as ornithine.
  • NR2E3-related disorders: NR2E3 is a gene that is helps create new retinal cells. Changes in this gene can cause three related conditions known as Goldmann-Favre vitreoretinal dystrophy, enhanced S-cone syndrome (ESCS), and clumped pigmentary retinal degeneration. These three conditions share with retinitis pigmentosa the feature of early-onset night blindness, but typically progress more slowly and also can be associated with complications not seen in retinitis pigmentosa such as retinal detachment.
  • choroideremia: this condition is characterized by progressive vision loss typically starting in the early teen years with poor night vision and eventually loss of peripheral vision. Sometime around the age of 50-70, central vision is lost as well. Choroideremia can be differentiated from retinitis pigmentosa by pigmental changes that can be visualized on ophthalmologic examination, as well as by electroretinography (ERG) and visual field testing.
  • cone or cone-rod dystrophy: this condition is sometimes referred to as "inverse" retinitis pigmentosa because the cones lose function first, with subsequent possible reduced function of the rods. This condition is distinct from retinitis pigmentosa because central vision and color vision defects are the first symptoms.
  • Leber congenital amaurosis (LCA): this condition is characterized by very early-onset retinal degeneration, usually in the first year of life. Along with loss of vision, this condition is associated with repetitive eye movements ("nystagmus"), poor pupil response to light, light aversion ("photophobia"), and other eye problems. There are several genes associated with LCA, changes in which have also been associated with nonsyndromic retinitis pigmentosa; therefore, it is possible that LCA is simply the most severe form of retinitis pigmentosa and not actually a distinct condition. In general, however, LCA can be differentiated even from the earliest-onset forms of retinitis pigmentosa because of it's extreme early age at presentation. Additionally, the ERG testing is more abnormal than in retinitis pigmentosa.

For more information about retinitis pigmentosa and similar conditions, review the "Differential Diagnosis" section of the Gene Review on retinitis pigmentosa. If you suspect you or a person you know has retinitis pigmentosa or a similar condition, talk to your doctor about further testing.

Are there one or two characteristic symptoms of retinitis pigmentosa?

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.

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