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Is Glaucoma a Genetic Disease? Three New Research Projects Pinpoint Six Specific Genes

photograph of retina with glaucoma

Three new research projects exploring the role of genes – and six genes in particular – as possible causes of glaucoma have been published simultaneously in the August 31, 2014 online edition of Nature Genetics.

Nature Publishing Group (NPG) is a publisher of scientific and medical information in print and online. NPG publishes a range of journals across the life, physical, chemical, and applied sciences and clinical medicine. Although research scientists are the primary audience, news summaries and articles make many of the most important papers understandable to scientists in other fields and the general public. Topics include current affairs, science funding, scientific ethics, and research breakthroughs.

About Genetics and Glaucoma Research

Excerpted from Six gene variations linked to glaucoma risk at ABC Science-Australia:

Scientists have identified six genetic variants associated with the eye condition glaucoma in people from around the world including Australia. The discovery, in three major studies, could help identify people at higher risk of the disease and lead to earlier screening and treatments.

All three studies, published … in Nature Genetics, identify gene sequence variations of the ABCA1 gene, which is involved in the regulation of cellular cholesterol and lipid metabolism, as playing a role in the eye disease.

Professor Jamie Craig, of the South Australian Health and Medical Research Institute and joint leader of the Australian project, says the finding is significant. "It's rock solid that this is an important result because it has been found in three different ways," says Craig, who is also from Flinders University's Centre for Ophthalmology and Eye Vision Research.

"All [three] papers were done in different populations with different strategies and all identified the same gene. It … tells us for sure it is contributing to glaucoma at least partly through intraocular [i.e, within the eye] pressure pathways."

Craig says the findings may in the future be used to develop risk profiles that will allow doctors to know whether a person has high-risk of their glaucoma being severe. "We are looking at ways to add up a genetic risk profile," says Craig. "So if you can say if you've got a larger load of these variant genes, your risk is high."

However, he cautions it will take several years of experiments before the exact role of the genes identified in these studies is known, and these steps need to be taken before new treatment strategies can be planned.

What Is Glaucoma?

The term "glaucoma" describes a group of eye diseases that can lead to blindness by damaging the optic nerve. It is one of the leading causes of vision loss and blindness. The human eye continuously produces a fluid, called the aqueous, that must drain from the eye to maintain healthy eye pressure.

Types of Glaucoma

  • In primary open-angle glaucoma (POAG), the most common type of glaucoma, the eye's drainage canals become blocked, and the resultant fluid accumulation causes pressure to build within the eye. This pressure can cause damage to the optic nerve, which transmits information from the eye to the brain. Vision loss is usually gradual and often there are no early warning signs.
  • In normal-tension glaucoma, also called low-tension or low-pressure glaucoma, persons with the disease experience optic nerve damage and subsequent vision loss, despite having normal intraocular [i.e., within the eye] pressure (IOP). This type of glaucoma is treated much like POAG, but eye pressure needs to be kept even lower to prevent progression of vision loss.
  • Secondary glaucomas develop as secondary to, or as complications of, other conditions, including cataracts, diabetes, eye trauma, eye surgery, or tumors. In many of these glaucomas, damage to the fluid drainage canal must be addressed with medication or surgery.

Eye Pressure and Glaucoma

Most eye care professionals define the range of normal within-the-eye pressure as between 10 and 21 mm Hg [i.e., millimeters of mercury, which is a pressure measurement]. Most persons with glaucoma have an IOP measurement of greater than 21 mm Hg; persons with normal-tension glaucoma, however, have an IOP measurement within the normal range.

Visual Field Loss from Glaucoma

Glaucoma results in peripheral (or side) vision loss initially, and the effect as this field loss progresses can be like looking through a tube or into a narrow tunnel. This "tunnel vision" effect makes it difficult to walk without bumping into objects that are off to the side, near the head, or at foot level:

A living room viewed through a constricted visual field

A living room viewed through a constricted visual field.
Source: Making Life More Livable. Used with permission.

Glaucoma is an especially dangerous eye condition because most people do not experience any symptoms or early warning signs at the onset. Glaucoma can be treated, but it is not curable. The damage to the optic nerve from glaucoma cannot be reversed.

More about the Research from Nature Genetics

The First Study: Australia and New Zealand

The first study, entitled Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma, examined potential genes involved in primary open-angle glaucoma (POAG).

The study included 1,155 subjects from the Australian and New Zealand Registry of Advanced Glaucoma with severe POAG, and 1,992 control subjects, who did not have the disease. Genetic testing identified variants of three genes that significantly increased the risk for POAG in Australians and Americans of European descent. (Source: ABC Science)

From the Nature Genetics abstract:

Primary open-angle glaucoma is a major cause of irreversible blindness worldwide. We performed a genome-wide association study in an Australian discovery cohort comprising 1,155 cases with advanced POAG and 1,992 controls… [W]e show that these genes are expressed within the human retina, optic nerve, and trabecular meshwork, and that two of the genes are also expressed in retinal ganglion cells.

[Note: Aqueous fluid drains through a filtering meshwork of spongy tissue along the outer edge of the iris, called the "trabecular meshwork," where the iris and cornea meet, and into a series of tubes, called Schlemm's canal, that drain the fluid out of the eye.]

[Note: In the human eye, a layer of cells in the retina, called photoreceptor cells, detects light and a separate layer of cells, called "ganglion cells," relays that information to the brain.]

The Second Study: Multi-Ancestry

The second study, entitled Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma, examined potential genes associated with high intraocular pressure (IOP) and glaucoma.

This study involved genetic screening of 35,296 subjects from the International Glaucoma Genetics Consortium. The subjects included persons of Asian and European descent from seven countries.

Genetic testing identified four new genes associated with high IOP and glaucoma. One of the genes is the ABO gene, which determines blood group, and higher eye pressure appears to be linked to blood type B. (Source: ABC Science)

From the Nature Genetics abstract:

Elevated intraocular pressure (IOP) is an important risk factor in developing glaucoma and variability in IOP might herald glaucomatous development or progression. We report the results of a genome-wide association study meta-analysis of 18 population cohorts from the International Glaucoma Genetics Consortium, comprising 35,296 multi-ancestry participants for IOP. We confirm genetic association of known [locations] for IOP and POAG and identify four new IOP-associated [gene locations].

The Third Study: China and Singapore

The third study, entitled Common variants near ABCA1 and in PMM2 are associated with primary open-angle glaucoma, is the first large-scale study to examine potential genes involved in primary open-angle glaucoma (POAG) in an Asian population.

The study included 1,007 subjects with severe POAG, and 1,009 control subjects who did not have the disease, all from southern China. Genetic testing identified variants near two genes associated with glaucoma risk in people from China and Singapore. (Source: ABC Science)

From the Nature Genetics abstract:

We performed a genome-wide association study for primary open-angle glaucoma (POAG) in 1,007 cases with high-pressure glaucoma (HPG) and 1,009 controls from southern China. Both the ABCA1 and PMM2 [genes] are expressed in the trabecular meshwork, optic nerve and other ocular tissues. In addition, ABCA1 is highly expressed in the ganglion cell layer of the retina, a finding consistent with it having a role in the development of glaucoma.

Additional Information


Topics:
Cultural Diversity
Medical Updates
Glaucoma

New Research: Do People with Macular Degeneration Under-Report Their Smoking Rates?

cigarette in an ashtray

New research from the University of Alabama at Birmingham has investigated the possible under-reporting of smoking – regarded as a major modifiable risk factor for age-related macular degeneration (AMD) – by persons with the disease. The study concludes that "the rate of possible smoking deception [appears] higher for macular degeneration and those at risk of late-stage AMD than is generally reported in the US population."

The research, entitled Smoking deception and age-related macular degeneration, was published in the August 2014 Special Issue on AMD of Optometry and Vision Science. The author is Mark W. Swanson, OD, MSPH, FAAO, from the School of Optometry, University of Alabama at Birmingham.

Optometry and Vision Science, the official publication of the American Academy of Optometry, publishes current developments in optometry, optics, and vision science, and promotes interdisciplinary exchange among optometrists and vision scientists worldwide.

About the "Smoking Deception" Research

Excerpted from Study shows patients with AMD deny smoking more often than those without AMD at Healio.com:

"Most, but not all, studies of smoking and macular degeneration have noted an excess risk, with some studies reporting 100% increases among active smokers," [Doctor Swanson] said.

"Smoking deception, or failing to self-report as a smoker, is a recognized concern in studies involving reports of active smoking status," he continued. "Studies specifically investigating the underreporting of active smoking have noted rates from a low of 1% to as high as 79%."

Swanson said he used estimates of smoking deception from the 2005 to 2008 National Health and Nutrition Examination Survey. Patients considered for Swanson's [study] were at least 40 years old and had cotinine levels performed and gradable fundus photos [i.e., a photograph of the interior surface of the eye, including the retina, optic disc, and macula] for both eyes, for a total of 4,639 subjects.

[Editor's note: Cotinine is a product formed after the chemical nicotine enters the body. Measuring cotinine in people's blood is the most reliable way to determine exposure to nicotine both for smokers and for nonsmokers exposed to environmental tobacco smoke. Measuring cotinine is preferred to measuring nicotine because cotinine remains in the body longer.]

Any level of AMD was found in 6.7% of the [study subjects], Swanson reported. He said that self-reporting of cigarette and nicotine usage in those with any level of AMD and those at risk of late-stage AMD was slightly less than that seen in the general U.S. population.

"For both individuals with AMD and at risk for late AMD, about 5% are potential smoking deceivers," Swanson said. "This is not a large prevalence at the individual level; however, given the approximate 9.5 million people at risk for late-stage AMD, this equates to more than 450,000 persons within the U.S. population who may misidentify themselves as nonsmokers."

More about Age-Related Macular Degeneration

Age-related macular degeneration (AMD) is gradual, progressive, painless deterioration of the macula, the small sensitive area in the center of the retina that provides clear central vision. Damage to the macula impairs the central (or "detail") vision that helps with essential everyday activities such as reading, preparing meals, watching television, playing card and board games, and sewing.

AMD is the leading cause of vision loss for people aged 60 and older in the United States. According to the American Academy of Ophthalmology, 10-15 million individuals have AMD and about 10% of people who are affected have the "wet" type of AMD.

Wet Macular Degeneration (AMD)

In wet, or exudative, macular degeneration (AMD), the choroid (a part of the eye containing blood vessels that nourish the retina) begins to sprout abnormal new blood vessels that develop into a cluster under the macula, called choroidal neovascularization (neo = new; vascular = blood vessels).

The macula is the part of the retina that provides the clearest central vision. Because these new blood vessels are abnormal, they tend to break, bleed, and leak fluid under the macula, causing it to lift up and pull away from its base. This damages the fragile photoreceptor cells, which sense and receive light, resulting in a rapid and severe loss of central vision.

Dry Macular Degeneration

The dry (also called "atrophic") type of AMD affects approximately 80-90% of individuals with AMD. Its cause is unknown, it tends to progress more slowly than the wet type, and there is not – as of yet – an approved treatment or cure. "Atrophy" refers to the degeneration of cells in a portion of the body; in this case, the cell degeneration occurs in the retina.

In dry age-related macular degeneration, small white or yellowish deposits, called drusen, form on the retina, in the macula, causing it to deteriorate or degenerate over time. These small yellow deposits beneath the retina are a buildup of waste materials, composed of cholesterol, protein, and fats. Typically, when drusen first form, they do not cause vision loss. However, they are a risk factor for progressing to vision loss.

Risk Factors for Macular Degeneration

The primary risk factors for AMD include the following:

  1. Smoking: Current smokers have a 2-3 times higher risk for developing AMD than do people who never smoked. It's best to avoid second-hand smoke as well.
  2. Sunlight: Ultraviolet (UV) light is not visible to the human eye, but can damage the lens and retina. Blue light waves that make the sky, or any object, appear blue, are visible to the human eye and can also damage the lens and retina. Living Well with Low Vision reports on these lighting issues in Artificial Lighting and the Blue Light Hazard. Avoid UV light and blue/violet light as much as possible by wearing sunglasses with an amber, brown, or orange tint that blocks both blue and UV light.
  3. Uncontrolled hypertension: The National Eye Institute (NEI) reports that persons with hypertension were 1.5 times more likely to develop wet macular degeneration than persons without hypertension. It's important to keep your blood pressure controlled within normal limits.
  4. A diet high in packaged, processed food and low in fresh vegetables: NEI suggests that eating antioxidant-rich foods, such as fresh fruits and dark green leafy vegetables (kale, collard greens, and spinach) may delay the onset or reduce the severity of AMD. Eating at least one serving of fatty fish (salmon, tuna, or trout) per week may also delay the onset or reduce the severity of AMD.
  5. Advanced age: The American Academy of Ophthalmology states that AMD is the leading cause of vision loss for people aged 60 and older in the United States.
  6. Race: According to the NEI, Whites/Caucasians are more likely to have AMD than people of African descent.
  7. Family history: NEI reports that individuals with a parent or sibling with AMD have a 3-4 times higher risk of developing AMD.

You can read more about the full range of AMD risk factors at Risk Factors for Age-Related Macular Degeneration on the VisionAware website.

More about the Research from Optometry and Vision Science

From the article abstract:

Purpose: Smoking has been identified as a major modifiable risk factor for age-related macular degeneration (AMD). Smoking deception or failing to self-report as a smoker is a recognized concern among studies of smoking-related disease. To date, no studies have evaluated the rates of smoking deception in macular degeneration.

Methods: Data from the 2005 to 2008 National Health and Nutrition Examination Survey were used to produce estimates of smoking deception among three ethnic groups within the US population. Comparisons of self-reported rates of cigarette use, any nicotine product use, and serum cotinine levels were used to produce estimates of potential smoking deception among adults older than 40 years with any-level macular degeneration and those at risk of late-stage disease.

Results: Any-level AMD was found to be present in 6.7% of this cohort. Excluding those with late AMD, 9.7% were at risk of developing late-stage disease. Among individuals with any level of macular degeneration, 5.4% were potential smoking deceivers. A similar rate was seen among those at risk of late-stage disease at 5.0%.

Conclusions: The rate of possible smoking deception seems higher for macular degeneration and those at risk of late-stage AMD than is generally reported in the US population. While the deception rate is low at the individual level, as many as 450,000 adults in the US population at risk of late-stage AMD may misclassify their smoking status.

Additional Research from Optometry and Vision Science

Acknowledgment

Cigarette in an ashtray photo is a Wikimedia Commons file, used in accordance with the Creative Commons Attribution-Share Alike 2.0 Generic license.


Topics:
Low Vision
Medical Updates
Macular Degeneration

Do People with Glaucoma Read Less and Engage Less with Reading Tasks? New Research Says Yes

The ARVO logo

New glaucoma research from Investigative Ophthalmology & Visual Science, the official journal of the Association for Research in Vision and Ophthalmology (ARVO), indicates that persons with glaucoma read less, have reduced reading skills, and have less engagement with tasks that require sustained reading.

The authors conclude that additional research is critically necessary to define the best reading methods in persons with glaucoma by (a) using effective lighting to optimize contrast and reduce glare, (b) correcting inefficient and ineffective eye movements, (c) using low vision optical devices to enlarge text, and (d) teaching strategies to reduce visual fatigue from reading.

The authors also note that "…only a small percentage of glaucoma patients are referred to rehabilitative services. One barrier to referrals may be the fact that physicians may not view glaucoma patients as requiring visual rehabilitation services, [since] they most often refer patients with central vision deficits."

The Association for Research in Vision & Ophthalmology

Reading Ability and Reading Engagement in Older Adults with Glaucoma was published in the August 2014 edition of Investigative Ophthalmology & Visual Science, the official journal of the Association for Research in Vision and Ophthalmology (ARVO). ARVO is an international organization that encourages and assists research, training, publication, and dissemination of knowledge in vision and ophthalmology, including low vision.

The authors are Angeline M. Nguyen; Suzanne W. van Landingham; Robert W. Massof; Gary S. Rubin; and Pradeep Y. Ramulu, who represent the following institutions: Wilmer Eye Institute, Johns Hopkins University, Baltimore, Maryland; and National Institute for Health Research (NIHR) Biomedical Research Centre at Moorfields Eye Hospital and University College London (UCL) Institute of Ophthalmology, United Kingdom.

About the Research

Excerpted from Study: Glaucoma patients have lower reading ability, engagement at Healio:

As detailed in the study, 63 glaucoma patients and 59 control patients with a diagnosis of glaucoma suspect or ocular hypertension participated.

[Editor's note: A person can be considered a "glaucoma suspect" on the basis of above-normal intraocular (i.e., within the eye) pressure, an unusual appearance of the optic disc or visual field, a family history of glaucoma, or narrow angles between the iris and cornea.]

The study subjects engaged in ten reading activities from the Activity Inventory, which was developed to assess patients with low vision.

[Editor's note: The Activity Inventory is an adaptive visual function questionnaire organized into three activity objectives (daily living, social interaction, and recreation), 50 activity goals, and 457 activity tasks.]

The reading tasks included word puzzles, bills, financial statements, handheld menus, magazines, religious texts, books, newspaper articles, typed mail, and written notes or mail. Nguyen and colleagues then evaluated the participants with an oral questionnaire and analyzed their responses … to determine ability.

Results showed that glaucoma patients had a lower reading ability than control participants, which was associated with greater visual field loss and lower contrast sensitivity. Additionally, glaucoma patients reported a greater difficulty reading in all reading activities except puzzles.

As reported by the participants, the most difficult tasks included finances, books and puzzles, and the least difficult tasks included bills, notes, and mail.

"While reading is a common complaint amongst glaucoma patients, only a small percentage of glaucoma patients are referred to rehabilitative services," the authors also noted. "One barrier to referrals may be the fact that physicians may not view glaucoma patients as requiring visual rehabilitation services, as they most often refer patients with central vision deficits."

"An additional barrier to referral may be that glaucoma patients do not often express severe reading difficulty to the extent that reading would be impossible," they continued. "Finally, rehabilitative services, including efforts to enable reading, are primarily tailored to serve patients with central vision loss – not those with visual field loss."

What Is Glaucoma?

The term "glaucoma" describes a group of eye diseases that can lead to blindness by damaging the optic nerve. It is one of the leading causes of vision loss and blindness. The human eye continuously produces a fluid, called the aqueous, that must drain from the eye to maintain healthy eye pressure.

Types of Glaucoma

  • In primary open-angle glaucoma (POAG), the most common type of glaucoma, the eye's drainage canals become blocked, and the resultant fluid accumulation causes pressure to build within the eye. This pressure can cause damage to the optic nerve, which transmits information from the eye to the brain. Vision loss is usually gradual and often there are no early warning signs.
  • In normal-tension glaucoma, also called low-tension or low-pressure glaucoma, persons with the disease experience optic nerve damage and subsequent vision loss, despite having normal intraocular [i.e., within the eye] pressure (IOP). This type of glaucoma is treated much like POAG, but eye pressure needs to be kept even lower to prevent progression of vision loss.
  • Secondary glaucomas develop as secondary to, or as complications of, other conditions, including cataracts, diabetes, eye trauma, eye surgery, or tumors. In many of these glaucomas, damage to the fluid drainage canal must be addressed with medication or surgery.

Eye Pressure and Glaucoma

Most eye care professionals define the range of normal within-the-eye pressure as between 10 and 21 mm Hg [i.e., millimeters of mercury, which is a pressure measurement]. Most persons with glaucoma have an IOP measurement of greater than 21 mm Hg; persons with normal-tension glaucoma, however, have an IOP measurement within the normal range.

Visual Field Loss from Glaucoma

Glaucoma results in peripheral (or side) vision loss initially, and the effect as this field loss progresses can be like looking through a tube or into a narrow tunnel. This "tunnel vision" effect makes it difficult to walk without bumping into objects that are off to the side, near the head, or at foot level:

simulation of scene as it might be viewed by a person with glaucoma

A simulation of visual field loss from glaucoma
Source: National Eye Institute

Glaucoma is an especially dangerous eye condition because most people do not experience any symptoms or early warning signs at the onset. Glaucoma can be treated, but it is not curable. The damage to the optic nerve from glaucoma cannot be reversed.

More about the Research from Investigative Ophthalmology & Visual Science

From the article abstract:

Purpose: We evaluated the impact of glaucoma-related vision loss on reading ability and reading engagement in 10 reading activities.

Methods: A total of 63 glaucoma patients and 59 glaucoma suspect controls self-rated their level of reading difficulty for 10 reading items, and responses were analyzed using Rasch analysis to determine reading ability. Reading engagement was assessed by asking subjects to report the number of days per week they engaged in each reading activity. Reading restriction was determined as a decrement in engagement.

Results: Glaucoma subjects more often described greater reading difficulty than controls for all tasks except puzzles. The most difficult reading tasks involved puzzles, books, and finances, while the least difficult reading tasks involved notes, bills, and mail…. Less reading ability was found for glaucoma patients compared to controls. Among glaucoma patients, less reading ability was associated with more severe visual field (VF) loss and contrast sensitivity.

Conclusions: Glaucoma patients have less reading ability and engage less in a variety of different reading activities, particularly those requiring sustained reading. Future work should evaluate the mechanisms underlying reading disability in glaucoma to determine how patients can maintain reading ability and engagement.

Additional Information


Topics:
Reading
Low Vision
Glaucoma

Meet Kooshay Malek, MA, MFT, Marriage and Family Therapist – Who Also Happens to Be Blind

head shot of Kooshay Malek

Kooshay Malek, MA, MFT, is a marriage and family therapist in Los Angeles, California. She also writes for the Discovery Eye Foundation Blog, which features lively, up-to-date information on eye disease, eye research, nutrition, low vision, technology, and healthy lifestyle choices.

The following essay, in which Kooshay recounts her concurrent personal, medical, and educational journeys from Tehran to Boston to Los Angeles, was first published on the Discovery Eye Blog as The Habit of Seeing and I See You. It is reprinted here with Ms. Malek's, and the Foundation's, permission.

Coming from Tehran, Iran

My eyes are what brought me to the US. I was 16 when my father and I came here from Tehran, Iran, for eye treatment. My case was an unusual case: We still, to this day, don't have a name for it, but it's retinal tumors of some sort. My case had been through Europe, Russia, Israel, to different conferences, and they sent me to the US as a final recourse.

During that time, in 1982, it was the Iran-Iraq war, and the airports were not open. My dad and I had to get special permits to get out for medical reasons. Then to get American visas, we were stuck in Frankfurt for a couple of months waiting. It was a very challenging time.

Her Eye Treatments Begin

Long story short, we got to Boston, and I started receiving treatments on my left eye. It didn't respond well, and I became totally blind on the left side. Meanwhile, I could still see 20/20 on my right side. We moved to Los Angeles, where we had friends for support, and my mother and sister joined us. I was 18 when my right eye started going bad, and I started going to UCLA/Jules Stein for treatment. I went blind in that eye when I was 22.

Psychology Beckons

My father passed away two years after I lost my sight. I finished college and went through independence training at the Foundation for the Junior Blind in Los Angeles. I eventually decided to go back to school to get a master's degree in psychology, because I realized I'm a good listener and I'm always wanting to help people, so I thought it would be a good way to channel that. And as a blind person, I didn't think I had too many career choices.

I've been licensed as a marriage and family therapist for the past five years. I have a part-time practice, I do volunteer work at the clinic where I did my internship, and I help train up-and-coming therapists.

I think one of the reasons I was so drawn to this field is the fact that when I became totally blind while I was in college, I was able to receive free counseling through school. But once I got out, I was looking for support groups and the camaraderie I had found during independence training — being around other blind people and helping each other emotionally. I couldn't find anything like that.

The only support groups I found were for seniors, so I just found a low-fee therapist to get some support. I'd lost my dad, lost my eyes, lost my country. I was dealing with so many losses. I think that's why I'm so passionate about doing volunteer work in this area.

I tried to pull together a support group for some blind clients, but it didn't work out, partially due to transportation and location and the same stuff blind people always run into, but I do offer low- or no-fee counseling to them. I also have good relationships with some rehab counselors who refer people to me. I think therapy is an important part of rehabilitation; you have to approach this holistically.

"The Habit of Seeing"

I've always been very proactive and resourceful. I've often thought, "If only there were a 12-step program for blind people." I've always been able to relate to people in these types of programs: They have to give up a habit that's no longer working for them, and they have to put their lives back together, step by step, day by day, one day at a time.

I really related to that: I had to give up the habit of seeing.

Starting as a Therapist

When I started as a therapist, I was really concerned about my blindness. I had faced prejudice in other jobs. With my first few clients, I gave them this whole spiel at the beginning, explaining about being blind and about why I wear dark glasses. My supervisor said not to work so hard to explain. He thought it was a nonissue: "If you were blonde and blue-eyed, would you be describing that over the phone to them?" he asked. He was right. It didn't faze most people.

In the 11 years I've been practicing, only a few people had a problem with it. To this day, once in a while, it may come out organically that I'm blind. Most of the time, I don't tell them beforehand.

I think I pick up on certain nuances sighted therapists may miss. I sense shifts in energy in the room. I have very strong attunements: I notice the slightest change in tone of voice — or even in their silences — and I know something's going on.

Her Therapeutic Techniques

If necessary, we talk about my blindness, and we process my blindness in the session. I don't leave it as an elephant in the room. The main concern of everybody who comes to therapy, whether they are seeing a blind person or not, is, "Am I going to be heard and understood?" In this case, they may wonder if my blindness will affect whether I can hear and understand them. I say: "Well, we'll have to wait and see. If there is something you think I can't understand, would you be able to tell me?"

That makes them self-sufficient in asking for help or expressing a need. Many patients tell me they find it so much easier to talk to me, because I don't have my eye on them, so to speak, like a microscope. They find it close to the traditional psychoanalyst's couch, where the therapist would sit behind them and not look at their faces.

They find out I see them better than anyone else in their life. That's the reward of it, especially with clients who have self-image and self-esteem issues. I get to see who is inside, not who is outside, and that's powerful by itself. People open up more easily.

My blindness is a really quiet, subtle intervention in the room at all times. It's always present. It's a gift I carry in there with me, and I use it.

About the Discovery Eye Foundation

The primary mission of the Discovery Eye Foundation is twofold:

You can read more about the Discovery Eye Foundation and Macular Degeneration Partnership at Meet the Discovery Eye Foundation on the VisionAware blog.

Additional Information


Topics:
Cultural Diversity
Personal Reflections

The FDA Approves EYLEA Injection for the Treatment of Diabetic Macular Edema

retina with diabetic retinopathy

Some good news for individuals who have diabetes and associated diabetic macular edema: On July 29, 2014, the United States Food and Drug Administration (FDA) approved EYLEA (generic name aflibercept) for the treatment of diabetic macular edema. The recommended dosage is two milligrams (mg) every two months, after five initial monthly injections.

About Diabetic Macular Edema

Diabetic macular edema [edema = a swelling or accumulation of fluid] (DME) can occur in people with diabetes when retinal blood vessels begin to leak into the macula, the part of the eye responsible for detailed central vision. These leakages cause the macula to thicken and swell, which, in turn, creates a progressive distortion of central vision.

Although this swelling does not always lead to severe vision loss or blindness, it can cause a significant loss of central, or detail, vision, and is the primary cause of vision loss in people with diabetic retinopathy.

A Short History of the Development of EYLEA

EYLEA is an anti-angiogenic drug (more about that below) that was developed for injection in the eye to block blood vessel growth in age-related macular degeneration (AMD).

In February 2011, Regeneron Pharmaceuticals, Inc. announced that the company had submitted an application to the FDA for Regeneron's VEGF Trap-Eye (now called EYLEA™), a potential injectable drug treatment for wet AMD.

Regeneron's VEGF Trap-Eye application to the FDA was based on positive results from two Phase III clinical trials: the North American VIEW 1 trial and the global VIEW 2 trial.

The VIEW (VEGF Trap-Eye: Investigation of Efficacy and Safety in Wet AMD) program consists of two randomized, double-blind, Phase III clinical trials.

The VIEW 1 study, conducted in the United States and Canada, included 1,217 patients. The VIEW 2 study, conducted in Europe, Asia Pacific, Japan, and Latin America, included 1,240 patients.

At the conclusion of both clinical trials, the FDA approved EYLEA on November 18, 2011. Although the FDA has ruled that EYLEA's benefits outweigh its risks, the drug can cause a number of side effects, including bleeding at the injection site, eye pain, cataracts, floaters, and elevated eye pressure.

Clinical Trials Supporting the Current EYLEA FDA Approval for Diabetic Macular Edema

The safety and effectiveness of EYLEA in treating diabetic macular edema were established via two ongoing clinical trials: the VISTA-DME trial and the VIVID-DME trial.

The purpose of these clinical trials is to determine the effectiveness of "VEGF Trap-Eye," administered by injection, on best-corrected visual acuity as measured by the Early Treatment Diabetic Retinopathy Study (ETDRS) eye chart in subjects with diabetic macular edema with central visual field involvement.

the EDTRS eye chart

The ETDRS Eye Chart

The 461 subjects in the VISTA-DME trial were randomly assigned to one of the following three groups: (1) EYLEA given monthly (n=155); (2) EYLEA given every two months (n=152); or (3) the control/comparison treatment of laser photocoagulation (n=154).

The 404 subjects in the VIVID-DME trial were randomly assigned to one of the following three groups: (1) EYLEA given monthly (n=136); (2) EYLEA given every two months (n=135); or (3) the control/comparison treatment of laser photocoagulation (n=132).

More about the Current FDA Approval for Diabetic Macular Edema

From FDA approves EYLEA Injection for treatment of Diabetic Macular Edema at Medical News:

Regeneron Pharmaceuticals, Inc. announced that the U.S. Food and Drug Administration (FDA) has approved EYLEA® (aflibercept) Injection for the treatment of Diabetic Macular Edema (DME). The recommended dosage of EYLEA in patients with DME is 2 milligrams (mg) every two months (8 weeks) after five initial monthly injections. Although EYLEA may be dosed as frequently as 2 mg every 4 weeks, additional efficacy was not demonstrated when EYLEA was dosed every 4 weeks compared to every 8 weeks.

The approval of EYLEA in DME was based on the one-year data from the Phase 3 VISTA-DME and VIVID-DME studies of 862 patients, which compared (a) EYLEA 2 mg given monthly, (b) EYLEA 2 mg given every two months (after five initial monthly injections), or (c) macular laser photocoagulation (at baseline and then as needed).

In the DME studies, after one year, the mean changes in Best Corrected Visual Acuity (BCVA), as measured by the Early Treatment Diabetic Retinopathy Study (ETDRS) chart for the monthly and every two month EYLEA groups, were statistically significantly improved compared to the control group and were similar to each other.

Across both trials, patients in both EYLEA dosing groups gained, on average, the ability to read approximately two additional lines on an eye chart compared with almost no change in the control group.

EYLEA and Anti-Angiogenic Drugs

Angiogenesis is a term used to describe the growth of new blood vessels and plays a crucial role in the normal development of body organs and tissue. Sometimes, however, excessive and abnormal blood vessel development can occur in diseases such as cancer (tumor growth) and AMD (retinal and macular bleeding).

Substances that stop the growth of these excessive blood vessels are called anti-angiogenic (anti=against; angio=vessel; genic=development), and anti-neovascular (anti=against; neo=new; vascular=blood vessels).

The focus of current anti-angiogenic drug treatments is to reduce the level of a particular protein (vascular endothelial growth factor, or VEGF) that stimulates abnormal blood vessel growth in the retina and macula; thus, these drugs are classified as anti-VEGF treatments.

At present, these drugs are administered by injection directly into the eye after the surface has been numbed. Current anti-VEGF drugs in use include EYLEA, Avastin, and Lucentis.

Additional Information


Topics:
Low Vision
Medical Updates
Clinical Trials
Diabetes and diabetic retinopathy
Eylea

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