My Illness explained about Rentinitis Pigmentosa and Usher Syndrome Type 2

What is retinitis pigmentosa?

Retinitis pigmentosa is the name of a group of eye diseases that are passed down in families. All the diseases involve the eye’s retina. The retina is the nerve layer that lines the back of the eye that is sensitive to light. All the diseases cause a slow but sure loss or decline in eyesight.

What causes retinitis pigmentosa?

Retinitis pigmentosa is part of a group of eye diseases that are passed down in families. All of them affect the ability of the retina to sense light. The problem with the retina can take place in any of the following:

• Rod cells

• Cone cells

• The link between the cells that make up the retina

What are the symptoms of retinitis pigmentosa?

The symptoms of retinitis pigmentosa usually begin in childhood or adolescence. However, each person may experience symptoms differently. Some people with the problem have a slow, very progressive loss of eyesight. Others lose their eyesight much more quickly and severely. Common symptoms may include:

• Hard time seeing in poor lighting or in the dark

• A reduced ability to see either central vision or side or peripheral vision

• Hard time reading print

• Hard time figuring out detailed images

• Hard time with stumbling or tripping over objects not seen

• Glare

The symptoms of the condition may look like other eye diseases.

How is retinitis pigmentosa diagnosed?

Your eye healthcare provider will take a complete medical history and give you an eye exam. The eye healthcare provider may do one or more of the following tests to make a diagnosis:

• Eye chart test

• Ophthalmoscopy

• Refraction test

• Color defectiveness determination test

• Retinal exam

• Ultrasound of the eye

How is retinitis pigmentosa treated?

Your eye healthcare provider will figure out the best treatment for you based on:

• Your age

• Your overall health and medical history

• How sick you are

• How well you can handle specific medicines, procedures, or therapies

• How long the condition is expected to last

• Your opinion or preference

The symptoms of retinitis pigmentosa sometimes look like other conditions or medical problems. Always see your eye healthcare provider for a diagnosis.

At this time, there is no specific treatment for retinitis pigmentosa. However, protecting your eye’s retina by using UV sunglasses may help delay the start of symptoms.A retinal prosthesis (artificial retina) has been developed for individuals with very advanced disease and severe vision loss.

What are the complications of retinitis pigmentosa?

Retinitis pigmentosa causes a progressive loss of eyesight. It may happen slowly or more quickly.

Living with retinitis pigmentosa

Retinitis pigmentosa is a progressive condition. This means that it will continue to get worse over time.

Key points about retinitis pigmentosa

• Retinitis pigmentosa is a group of eye disorders that are inherited and involve the eye’s retina

• Retinitis pigmentosa causes a slow but sure loss or decline in eyesight

• Symptoms, including loss of vision or visual sharpness, usually begin in childhood or adolescence

• Currently, there are no treatments for retinitis pigmentosa

• The use of UV sunglasses may help delay the start of symptoms

Next steps

Tips to help you get the most from a visit to your healthcare provider:

• Know the reason for your visit and what you want to happen.

• Before your visit, write down questions you want answered.

• Bring someone with you to help you ask questions and remember what your provider tells you.

• At the visit, write down the name of a new diagnosis, and any new medicines, treatments, or tests. Also write down any new instructions your provider gives you.

• Know why a new medicine or treatment is prescribed, and how it will help you. Also know what the side effects are.

• Ask if your condition can be treated in other ways.

• Know why a test or procedure is recommended and what the results could mean.

• Know what to expect if you do not take the medicine or have the test or procedure.

• If you have a follow-up appointment, write down the date, time, and purpose for that visit.

• Know how you can contact your provider if you have questions.

At a glance: Retinitis Pigmentosa

Early Symptoms: Loss of night vision and side (peripheral) vision

Later Symptoms: Vision loss and blindness

Diagnosis: Dilated eye exam, electroretinography (a type of retina test), genetic test

Treatment: Low vision aids, vision rehabilitation

What is retinitis pigmentosa?

Retinitis pigmentosa (RP) is a group of rare eye diseases that affect the retina (the light-sensitive layer of tissue in the back of the eye). RP makes cells in the retina break down slowly over time, causing vision loss.

RP is a genetic disease that people are born with. Symptoms usually start in childhood, and most people eventually lose most of their sight.

There’s no cure for RP. But vision aids and rehabilitation (training) programs can help people with RP make the most of their vision.

What are the symptoms of RP?

The most common early symptom of RP is loss of night vision — usually starting in childhood. Parents may notice that children with RP have trouble moving around in the dark or adjusting to dim light.

RP also causes loss of side (peripheral) vision — so you have trouble seeing things out of the corners of your eyes. Over time, your field of vision narrows until you only have some central vision (also called tunnel vision).

Some people with RP lose their vision more quickly than others. Eventually, most people with RP lose their side vision and their central vision.

Other symptoms of RP include:

Sensitivity to bright light

Loss of color vision

What causes RP?

Most of the time, RP is caused by changes in genes that control cells in the retina. These changed genes are passed down from parents to children.

RP is linked to many different genes and can be inherited in different ways. If you have RP, you can talk with your doctor or a specialist called a genetic counselor to learn more about your risk of passing RP to your children.

Sometimes RP happens as part of other genetic conditions, like Usher syndrome. Usher syndrome causes both vision and hearing loss.

RP can also be caused by some medicines, infections, or by an eye injury — but these causes aren’t as common.

How will my eye doctor check for RP?

Eye doctors can check for RP as part of a comprehensive dilated eye exam. The exam is simple and painless the doctor will give you some eye drops to dilate (widen) your pupil and then check your eyes for RP and other eye problems. The exam includes a visual field test to check peripheral (side) vision.

Learn what to expect from a dilated eye exam

Other tests for RP include:

Electroretinography (ERG). ERG lets the eye doctor check how well your retina responds to light.

­Optical coherence tomography (OCT). This test uses light waves to take a detailed picture of your retina.

Fundus autofluorescence (FAF) imaging. In this test, the eye doctor uses blue light to take a picture of the retina.

Genetic testing. Your doctor may suggest a genetic test to learn more about the type of RP they have. This can tell you how your RP symptoms may change over time.

What’s the treatment for RP?

There’s no cure for RP, but low vision aids and rehabilitation (training) programs can help people with RP make the most of their vision.

Learn more about living with low vision

You can also talk with your eye doctor about vitamins and supplements for RP. Vitamin A may help slow vision loss from the common forms of RP. But taking too much vitamin A can cause liver problems — so talk with your doctor about the risks and benefits of this treatment. Fish oil and lutein supplements may also help slow vision loss.

Get regular eye exams

It’s very important for people with RP to get regular eye exams. That way, the eye doctor can keep track of symptoms and help find the right treatments.

People with RP are also more likely to have other eye problems, like:

Refractive errors

Cataracts

Small pockets of fluid in the center part of the retina (cystoid macular edema)

Regular eye exams can help your eye doctor find and treat these problems them early on. This will help you make the most of your vision.

What’s the latest research on RP?

NEI funds research about RP and other genetic eye diseases with the goal of preventing vision loss and giving people their sight back. Currently, NEI researchers are studying gene therapies, cell therapies, and new medications as experimental treatments that may become standard treatments in the future.

Management and Treatment

Overview

What is Usher syndrome?

Usher syndrome is a disease that leads to hearing loss and vision loss. Some people also experience balance problems. Usher syndrome is a disease you are born with. Healthcare providers usually diagnose it during childhood.

There are three types of Usher syndrome. All three cause varying degrees of hearing and vision loss. Some also cause difficulties with balance. The different types cause symptoms starting at different ages.

How common is Usher syndrome?

About 4 to 17 per 100,000 children are born with Usher syndrome and it's the cause of deafness in 3% to 6% of all children who are deaf. To inherit the disease, both of your parents must carry the gene that causes it.

What are the different types of Usher syndrome?

There are three types of Usher syndrome:

Type 1: Babies with Usher syndrome Type 1 are born with severe hearing loss or deafness. They also have balance problems. Most babies with Usher syndrome Type 1 don’t start walking until they are at least 18 months old. Vision loss usually begins around age 10 and gets worse with age. This usually starts with loss of night vision and can worsen to severe vision loss over years.

Type 2: Babies with Usher syndrome Type 2 are born with hearing loss. That hearing loss may be moderate to severe. Vision loss begins in the teens and continues to worsen. People with Usher syndrome Type 2 don’t typically have balance problems.

Type 3: Usher syndrome Type 3 is very rare, making up only about 2% of all cases. People with this type have typical hearing and vision at birth. Hearing loss usually begins in late childhood. Vision loss begins in early to mid-adulthood, usually starting with night blindness. Half of those with Usher syndrome Type 3 also have balance problems.

Symptoms and Causes

What causes Usher syndrome?

Usher syndrome is an inherited condition. You get it through mutated (changed) genes your parents carry.

The condition is a recessive disorder, meaning you have to inherit copies of the mutated gene from each parent. If both parents carry the gene, they have a 1 in 4 chance of having a baby with Usher syndrome.

What are the symptoms of Usher syndrome?

Symptoms vary in their severity and when they begin, depending on the type of Usher syndrome. Common symptoms include:

Hearing loss: Some children with Usher syndrome are born deaf or with severe hearing loss. Others experience only moderate hearing loss later in life.

Vision loss: Children with Usher syndrome experience vision loss due to a condition called retinitis pigmentosa (RP). RP causes the retina (the lens in the back of the eye) to deteriorate. The first sign of retinitis pigmentosa is difficulty seeing in low light (also called “night blindness”). As the condition gets worse, peripheral (side) vision disappears. Eventually, RP can lead to blindness.

Balance problems: Your sense of balance relies on input from your eyes and inner ear. Damage to those senses can lead to trouble with balance and coordination.

What are the complications of Usher syndrome?

In most cases, Usher syndrome symptoms continue to worsen over time. In severe cases, it can lead to deafness and blindness. People with less severe forms of the disease may experience only moderate hearing and vision loss.

Babies born with Usher syndrome Type 1 may experience balance problems. Those problems may mean delays in their ability to sit or walk without assistance. They may need extra help with activities — like bike riding or ice skating — that require good balance.

What causes vision loss in Usher syndrome?

The retina is a tissue at the back of your eye that helps you see. The gene mutation in Usher syndrome affects the retina's light-sensing cells called rods and cones. This condition is called retinitis pigmentosa or RP.

In RP, the retina's light-sensing rods and cones slowly go bad, starting at the outer edges. As RP gets worse, the person loses peripheral (edges) vision first then central vision.

What causes hearing loss in Usher syndrome?

The cochlea is a spiral structure in the inner ear that transmits sound. In Usher syndrome, the gene mutation affects the nerve cells in the cochlea so they do not transmit sound normally.

Diagnosis and Tests

How is Usher syndrome diagnosed?

If your child experiences changes in their hearing, vision or balance, your healthcare provider may recommend following up with specialists who can help diagnose the cause. Early diagnosis is important to get your child the help they need as soon as possible. Testing may include:

Hearing tests: An otolaryngologist (doctor who specializes in conditions of the ears) and an audiologist (who specializes in hearing issues) measure your child’s hearing. They use tests that check the ability to hear a variety of sounds and frequencies.

Vision tests: An ophthalmologist (doctor who specializes in eye disorders) can assess your child’s vision. They look for damage to the retina that’s common in people with retinitis pigmentosa. They can also perform tests that measure peripheral vision. And they can analyze visual symptoms that might result in balance problems.

Genetic tests: The only way to get a definitive diagnosis of Usher syndrome is to test for the genes that cause it. A simple blood test can look for any of the nine genes known to cause Usher syndrome.

Management and Treatment

How is Usher syndrome managed or treated?

There is currently no cure for Usher syndrome, but there are many ways to manage the disease. Treatments focus on improving the ability to communicate and function independently. Possible therapies may include:

Hearing aids: People with mild-to-moderate hearing loss may benefit from hearing aids or other hearing assistive technology. These can be especially useful for children born with Type 2 or 3 Usher syndrome as they develop deafness later in life.

Cochlear implants: A cochlear implant can help restore some hearing in children with severe hearing loss. These are usually needed in children with Type 1 Usher syndrome.

Vision aids: There are several options — beyond regular prescription glasses — that can help you cope with vision loss.

Vitamin A supplements: There is some evidence that taking vitamin A supplements can help slow down retinitis pigmentosa. You should talk to your doctor first before starting to take vitamin A, especially if there is a chance you might be pregnant.

Clinical trials: There is a lot of ongoing research into new therapies to treat Usher syndrome. Talk to your healthcare provider about available clinical trials.

Night vision normal from worst

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