Eye Disease

Gene Therapy may help with Choroideremia, a Rare Degenerative Eye Disease

January 22, 2014 by Anne Arundel Eye Center

An interesting article popped up on WebMD last week: “Gene Therapy May Help Against Rare Blinding Disease.” According to a clinical trial published in The Lancet, gene therapy helped improve vision in six male patients with Choroideremia, a rare degenerative eye disease. This was especially true for two patients with advanced choroideremia.

“In truth, we did not expect to see such dramatic improvements in visual acuity and so we contacted both patients’ home opticians to get current and historical data on their vision in former years, long before the gene therapy trial started,” said lead author Robert MacLaren of the Nuffield Laboratory of Ophthalmology at the University of Oxford. “These readings confirmed exactly what we had seen in our study and provided an independent verification.”

What is Choroideremia?

Choroideremia causes the pigment cells in the retina to die off, shrinking the retina and reducing vision over time. This rare eye disease is caused by defects in the CHM gene on the X chromosome. Because of this, most patients with the choroideremia are male.

This rare degenerative eye disease affects about one in every 50,000 people.

Gene Therapy may help with Choroideremia

Dr. Mark Fromer, an ophthalmologist at Lenox Hill Hospital in New York City, believes gene therapy is the future of choroideremia treatment. Gene therapy could be used to prevent blindness by fixing defective genes in patients before the eye disease can take root. This, Dr. Fromer believes, is true for choroideremia as well as other eye diseases, such as macular degeneration (AMD) or retinitis pigmentosa (RP).

The main Message is one of hope for the future. If this therapy leads to improved diagnoses and treatment of AMDor RP, this would be a great benefit for many millions of patients.

“This is something that we’ve been trying to accomplish for years in retinal science, and it’s very encouraging,” said Fromer. “We’ll go from putting a Band-Aid on the lesion to preventing it from happening. This is a new pathway to fix things before they get broken.”

Of course, the key is early detection. This is why it is so important to have your eyes examined regularly. The American Optometric Association (AOA) recommends that adults, ages 18-60, have their eyes examined every two years, while adults older than 60 have their eyes examined annually.

Early detection means early and more effective treatment.

If you have any questions about how Gene Therapy may help with Choroideremia, a Rare Degenerative Eye Disease, or wish to schedule an appointment with Anne Arundel Eye Center, please contact board certified ophthalmologist Dr. Samuel Boles, Dr. Corinne Casey, and the eye care specialists here at AAEC by calling 410-224-2010 or visiting AnneArundelEyeCenter.com today. You can also follow us on Facebook, Twitter, Google+, and YouTube as well!

For more eye care advice and information, please take a look at our previous blog posts.

Sources:

Gene Therapy May Help Against Rare Blinding Disease

Age-Related Macular Degeneration: Symptoms and Treatment

December 22, 2011 by Anne Arundel Eye Center

Age-related macular degeneration (AMD) is the leading cause of vision loss and blindness in Americans 60 years of age or older. Currently, about 1.75 million U.S. residents have advanced AMD with associated vision loss. That number expected to grow to almost 3 million by 2020.

AMD is an eye disease that affects the part of the retina (the macula) responsible for sharp, central vision. As a result, AMD can make it difficult to perform every day tasks, such as reading and driving.

Symptoms of Age-Related Macular Degeneration

Gradual loss of ability to see objects clearly
Objects appear distorted in shape. Straight lines look wavy or crooked.
Loss of clear color vision
A dark or empty area appears in the center of vision.

If you feel you may be experiencing any of the above symptoms, schedule an appointment with your eye doctor as soon as possible. Any sudden change in your vision is a serious medical condition that requires prompt medical attention from your optometrist or ophthalmologist.

AMD can advance so slowly that individuals initially notice little change in their vision. Other times, AMD progresses more rapidly and may even lead to vision loss in both eyes. This is why regular eye exams are so important. They can help detect the eye disease before it causes significant vision loss.

Age-Related Macular Degeneration Treatment

There are two types of AMD, “dry” macular degeneration and the less common “wet” macular degeneration.

Dry AMD: With this form of AMD, the tissue of the macula gradually becomes thinner and stops functioning properly. There is currently no cure for dry AMD and any vision loss associated with the disease cannot be restored, even with treatment.
Wet AMD: This form of AMD is caused by fluid that leak from newly formed blood vessels under the macula, resulting in blurred central vision. With wet AMD, vision loss can be rapid and severe, but if detected early, this form of AMD can be treated with photocoagulation (laser treatment).
Other potential treatment options include:
Anti-angiogenesis drugs: These medications block the development of new blood vessels and leakage from the abnormal vessels within the eye that cause wet macular degeneration.
Vitamins: A recent study found that vitamins C, E, beta carotene, zinc and copper can decrease the risk of vision loss in patients with intermediate to advanced dry macular degeneration.

Photodynamic laser therapy: A two-step treatment in which a light sensitive drug is used to damage the abnormal blood vessels. A doctor injects the drug into the bloodstream to be absorbed by the abnormal blood vessels in the eye. The doctor then shines a cold laser into the eye to activate the drug, damaging the abnormal blood vessels.

While AMD treatment cannot restore your vision, it can help to slow further vision loss.

If you have any questions about what you have just read or if you would like to learn more about cataracts, please contact board certified ophthalmologist Samuel Boles and the eye care specialists at Anne Arundel Eye Center by calling 410-224-2010 or click here to visit AnneArundelEyeCenter.com today!
Located in Annapolis, Maryland, the Anne Arundel Eye Center offers comprehensive specialized ophthalmic exams as well as diagnostic pre and post-surgical eye care. Specializing in glaucoma and cataracts, Dr. Boles has helped restore and preserve thousands of patients’ vision.

For more eye care advice and information, please take a look at our previous blog posts.

You can also follow Anne Arundel Eye Center on Facebook, Twitterand YouTube as well!

Sources:
Macular Degeneration MedlinePlus
Age-Related Macular Degeneration American Optometric Association

The Elderly are at an Increased Risk for Eye Disease

October 28, 2011 by Anne Arundel Eye Center

In a statement by National Eye Institute Director Paul A. Sieving, M.D., Ph.D., on World Sight Day 2011, the Director urged older Americans to protect their vision. Because, as Sieving explained, older people are simply at an increased risk for eye diseases, including age-related macular degeneration (AMD), Cataracts, Glaucoma, and Diabetic Retinopathy.

AMD – This eye disease can cause loss of central vision due to the breakdown of the light-sensing cells in the retina.

Cataracts – This eye disease clouds vision because of a clumping of proteins in the eye’s lens.

Glaucoma – This eye disease involves damage to the optic nerve caused by increased intraocular pressure (IOP).

Diabetic Retinopathy – This eye disease impairs vision due to diabetes-related injury to the eye’s blood vessels.

Early stages of these diseases have no symptoms, which is why regular eye exams are crucial to catching eye disease before permanent vision loss occurs. The importance of early detection and treatment of age-related eye disease cannot be overstated.

If you experience a sudden change in vision, such as blurriness/blurry vision, schedule an appointment with your eye doctor immediately. If this change in vision is extreme or if any eye pain is involved, consider having a family member or friend drive you to the emergency room.

Any change in your sight is a serious medical condition that requires immediate attention.

If you have any questions about what you have just read, please contact board certified ophthalmologist Samuel Boles and the eye care specialists at Anne Arundel Eye Center by calling 410-224-2010 or click here to visit AnneArundelEyeCenter.com today!

Led by Dr. Boles, the Anne Arundel Eye Center offers complete ophthalmic exams as well as diagnostic pre and post-surgical eye care. Specializing in glaucoma and cataracts, Dr. Boles has helped restore and preserve thousands of patients’ vision.

For more eye care advice and information, please take a look at our previous blog posts.

You can also follow Anne Arundel Eye Center on Facebook, Twitter and YouTube as well!

Sources:

National Eye Institute urges older Americans to protect their vision

Early Glaucoma Detection:: Anne Arundel Eye Center

September 23, 2011 by Anne Arundel Eye Center

Glaucoma is the second leading cause of vision loss in the United States behind only cataracts. Currently affecting more than 3 million Americans – though half are unaware they even have the eye disease – glaucoma refers to a group of eye conditions that lead to intraocular pressure and damage to the optic nerve, the nerve that carries visual information from the eye to the brain. This pressure comes from a buildup of normal fluid called the aqueous humor, which is naturally and continuously produced in the front of your eye.

Everyone is at risk of glaucoma. However, certain factors can increase that risk, including: if you are over 60 years of age, if you are African American, if you have high myopia (nearsightedness), diabetes, hypertension, or if you need steroids.

To make the situation worse, many people will not experience any symptoms of glaucoma until they begin to lose their vision. The most common type of glaucoma induced vision loss is tunnel vision, the gradual loss of peripheral (side) vision. Other signs and symptoms include: severe eye pain, nausea and vomiting, sudden onset of visual disturbance (often in low light), blurred/blurry vision, halos around lights, and reddening of the eye.

Without treatment, glaucoma can lead to permanent vision loss. While there is currently no cure for glaucoma, regularly scheduled eye exams, early detection, and treatment (medication and possibly surgery) can help slow or even prevent further vision loss brought on by this disease.

Since glaucoma damage begins well before conventional tests can identify it, we are increasingly thankful for the ability to identify early, subtle nerve damage. Doctors are able to utilize advanced imaging devices – special cameras – to create a three dimensional image of the optic nerve, the part of the eye where the eye pressure does its damage. These tests use infra red light or laser light to create a sophisticated computer aided image of the central portion of the optic nerve called the optic cup, and the retinal layer around the nerve, the nerve fiber later, to help predict who might be at risk for vision loss.

These sophisticated early detection devices are helping doctors “predict the future” of glaucoma and intervene long before you have any perceptible loss of visual function.

Besides, Early detection equals earlier, simpler and more effective treatment.

You can follow Anne Arundel Eye Center on Facebook, Twitter and YouTube as well!

Sources:

Glaucoma MayoClinic.com

Macular Degeneration

September 9, 2011 by Anne Arundel Eye Center

Macular Degeneration, also referred to as age-related macular degeneration (AMD), is the leading cause of vision loss and blindness in Americans 60 years of age and older. This eye disease, which affects the part of the retina (the macula) responsible for the sharp, central vision, comes in two types – dry (non-neovascular) and wet (neovascular).

• The dry form, which is the more common of the two types (accounting for 85-90% of AMD cases), is characterized by the presence of yellow deposits, called drusen, in the macula. As these drusen grow in size and number, they may lead to a dimming or distortion of vision.

• The wet form is characterized by the growth of abnormal blood vessels from the choroid underneath the macula. These blood vessels leak blood and other fluid into the retina, causing distorted vision that makes straight lines appear wavy, as well as loss of central vision. These abnormal blood vessels eventually scar, leading to permanent loss of central vision.

Macular Degeneration tends to affect Caucasians and females more than other demographics. Additional risk factors include:

• Aging

• Obesity and Inactivity. Overweight patients with macular degeneration have more than double the risk of developing advanced forms of macular degeneration compared with people of normal body weight.

• Heredity. Recent studies have found that specific variants of different genes are present in most people who have macular degeneration.

• High Blood Pressure (Hypertension). High blood pressure may be associated with development of macular degeneration.

• Smoking. One study found smoking to be directly associated with about 25 percent of AMD cases causing severe vision loss.

• Lighter Eye Color. Some researchers have theorized that the extra pigment found in darker eyes was a protective factor against the development of the eye disease.

The symptoms of macular degeneration include:

• Straight lines start to appear distorted, or the center of vision becomes distorted

• Dark, blurry areas or white out appears in the center of vision

• Diminished or changed color perception

If you experience any of these symptoms, see your eye doctor as soon as possible.

Regular eye exams can help to detect macular degeneration before it causes significant vision loss. While there is no cure for AMD, treatment can slow vision loss.

Treatment options include:

Anti-angiogenesis drugs: These medications block the development of new blood vessels and leakage from the abnormal vessels within the eye that cause wet macular degeneration.

Vitamins: A recent study found that vitamins C, E, beta carotene, zinc and copper can decrease the risk of vision loss in patients with intermediate to advanced dry macular degeneration.

Laser therapy: High-energy laser light can sometimes be used to destroy actively growing abnormal blood vessels that occur in macular degeneration.

Photodynamic laser therapy: A two-step treatment in which a light sensitive drug is used to damage the abnormal blood vessels. A doctor injects the drug into the bloodstream to be absorbed by the abnormal blood vessels in the eye. The doctor then shines a cold laser into the eye to activate the drug, damaging the abnormal blood vessels.

Low vision aids: Devices that have special lenses or electronic systems that produce enlarged images of nearby objects.

Submacular surgery (experimental): Surgery to remove the abnormal blood vessels or blood.

Retinal translocation (experimental): A surgical procedure used to destroy abnormal blood vessels that are located directly under the center of the macula, where a laser beam cannot be placed safely.

Currently, about 1.75 million U.S. residents currently have advanced age-related macular degeneration with associated vision loss, with that number expected to grow to almost 3 million by 2020.

If you feel you may be at risk, schedule an appointment with your eye doctor as soon as possible. As with any eye disease, early detection and treatment are your best options.

If you have any questions about what you have just read, contact Anne Arundel Eye Center by calling 410-224-2010 or click here today!

You can follow Anne Arundel Eye Center on Facebook, Twitter and YouTube as well!

Sources:

Macular Degeneration Medline Plus

Age-related Macular Degeneration All About Vision

Eye Health: Macular Degeneration WebMD