Month: May 2014

Researchers at the University of Pennsylvania School of Medicine have created the first animal model of age-related macular degeneration (AMD) caused by a mutation known to produce disease in people, an important first step in developing treatments. The study appears in the October issue of Human Molecular Genetics.

Age-related macular degeneration is the most common cause of vision loss in elderly people, affecting more than 10 million people in the U.S. and about 50 million world-wide. Although it is a common and debilitating condition, prevention and treatment options are limited because AMD is a difficult condition to study.

“To better develop treatments for preventing the progression of AMD, we need to understand the real biochemical details of how AMD occurs,” says lead author Eric A. Pierce, MD, PhD, Associate Professor of Ophthalmology at Penn’s K.M Kirby Center for Molecular Ophthalmology. “To do that, we need a model, and now we have one.”

AMD is a difficult condition to investigate because it develops late in life patients typically show symptoms of AMD after 60, and the only samples researchers could use for study were from people who died while they had the early stages of AMD, and at that point, the tissue is not useful to study the condition’s progression.

AMD is caused by the development of deposits between the retinal pigment epithelium and its basement membrane, called Bruch’s membrane. The material starts as basal deposits and becomes drusen, extracellular deposits of protein and lipids that accumulate and can cause blindness. In order to prevent the basal deposits from forming, researchers need to understand the mechanisms that cause them to form in the first place.

“By making this particular mutant mouse, we’ve made a model of early macular degeneration that’s caused by a mutation we know produces macular degeneration in people,” says Pierce. “We think it’s going to be a good model to study the pathogenesis of basal deposits.”

Some forms of macular degeneration are inherited, and one type is thought to be caused by a mutation in the Efemp1 gene. Pierce and colleagues created a mouse model of this inherited disorder by introducing the disease-causing mutation into the Efemp1 gene of mice. The resulting Efemp1-mutant mice develop the same basal deposits as people with AMD.

Pierce and colleagues plan to use the Efemp1-mutant mice to study how basal deposits form and what they are made of. The mice can also be used to test potential treatments to prevent basal deposit formation.

In addition to Pierce, Li Fu and Donita Garland of Penn; Zhenglin Yang, Erik Pearson and Kang Zhang of the University of Utah Health Sciences Center; Dhananjay Shukla and Anand Rajendran of the Aravind Eye Hospital & Postgraduate Institute of Ophthalmology; and Edwin M. Stone of the Howard Hughes Medical Institute are co-authors.

The Rosanne Silbermann Foundation, Research to Prevent Blindness, the Foundation Fighting Blindness, the F.M. Kirby Foundation, the Ruth and Milton Steinbach Fund, Ronald McDonald House Charities, the Macular Vision Research Foundation, the Howard Hughes Medical Institute and the National Eye Institute provided funding for this research.

PENN Medicine is a $3.5 billion enterprise dedicated to the related missions of medical education, biomedical research, and excellence in patient care. PENN Medicine consists of the University of Pennsylvania School of Medicine (founded in 1765 as the nation’s first medical school) and the University of Pennsylvania Health System.

Penn’s School of Medicine is currently ranked #3 in the nation in U.S.News & World Report’s survey of top research-oriented medical schools; and, according to most recent data from the National Institutes of Health, received over $379 million in NIH research funds in the 2006 fiscal year. Supporting 1,400 fulltime faculty and 700 students, the School of Medicine is recognized worldwide for its superior education and training of the next generation of physician-scientists and leaders of academic medicine.

The University of Pennsylvania Health System includes three hospitals its flagship hospital, the Hospital of the University of Pennsylvania, rated one of the nation’s “Honor Roll” hospitals by U.S. News & World Report; Pennsylvania Hospital, the nation’s first hospital; and Penn Presbyterian Medical Center a faculty practice plan; a primary-care provider network; two multispecialty satellite facilities; and home care and hospice.

University of Pennsylvania School of Medicine
3600 Market St., Ste 240
Philadelphia, PA 19104
United States
med.upenn.edu

As more extremely pre-term infants survive in Sweden, an increasing number of babies are experiencing vision problems caused by abnormalities involving the retina, according to a report in the October issue of Archives of Ophthalmology, one of the JAMA/Archives journals.

“Retinopathy of prematurity [abnormal development of blood vessels in the retina] remains an important cause of childhood blindness and visual impairment throughout the world,” the authors write as background information in the article. “During the last decade, neonatal care has changed with an increase in centralization, implementation of new therapies and provision of intensive care for infants of extremely low gestational age. These changes have contributed to an increasing population of survivors in neonatal intensive care units today. The incidence of retinopathy of prematurity in these extremely preterm infants is, therefore, unknown.”

Dordi Austeng, M.D., of University Hospital, Uppsala, Sweden, and Trondheim University Hospital, Trondheim, Norway, and colleagues studied Swedish infants born before 27 weeks’ gestation between 2004 and 2007. Infants were screened for retinopathy of prematurity beginning at five weeks after birth and were treated for the condition according to established guidelines.

During the study, 506 of 707 infants survived until the first eye examination. Of these, 368 (72.7 percent) had retinopathy of prematurity, including 37.9 percent with mild cases and 34.8 percent whose condition was severe. A total of 99 (19.6 percent) were treated.

Gestational age was more closely associated with the development of retinopathy of prematurity than was birth weight. “The incidence was reduced from 100 percent in the five infants born at 22 weeks’ gestation to 56 percent in those born at 26 completed weeks,” the authors write. “In addition, the risk of retinopathy of prematurity declined by 50 percent for each week of gestational age at birth in the cohort.”

Direct comparisons with previous studies are difficult, but most have found much lower incidences of severe retinopathy of prematurity, the authors note. For instance, a Belgian study reported a 25.5 percent incidence among infants born before 27 weeks’ gestation and an Austrian study observed a 16 percent lower rate, compared with the 34.8 percent incidence in the current findings.

“The higher incidence of retinopathy of prematurity in the present study may be because of the higher proportion of infants born in the earliest weeks of gestation (i.e., 11.5 percent of infants in weeks 22 to 23 vs. 0 percent to 6 percent in the other studies),” the authors write. “These extremely premature infants, who previously did not survive, are probably especially vulnerable and prone to develop complications such as retinopathy of prematurity.”

Arch Ophthalmol. 2009;127[10]1315-1319.

Source
Archives of Opthalmology

IOptima of the Israeli based Bio-Light group (TASE: BOLT) announces that they have received the European Patent Office (EPO) approval for its OT-134 laser based system, known also as IOPtiMateTM , for the non invasive filtration treatment of Glaucoma.

IOPtima, a leading Israeli based company focused in the development and commercialization of advanced technologies for Glaucoma treatment, developed a novel CO2 laser based system (IOPtiMate TM) which enables the performance of a swift simplified, efficient and cost effective filtration procedure for the alleviation of Intra Ocular Pressure. The IOPtiMate TM is a breakthrough technology which enables practitioners to provide a safe and efficient solution to relieve excessive intra ocular pressure which is the primary cause of damage to the optic nerve in glaucoma patients, and is expected to compete as the preferred first line of glaucoma treatment.

The patent approved is a broad based patent covering the company’s unique concept of treatment and laser technology that they have developed for treating glaucoma.

According to Dr. Ami Eya, CEO of Bio-Light,”The EPO approval will enable commercialization of our systems in a protected and proprietary environment. It was a short while ago when we received the CE mark of approval and we are currently preparing for the implementation of our systems in the European markets parallel to the implementation in the Far East markets which has already begun. We are continuing our process of achieving FDA approval and expect to begin clinical trials in the U.S. shortly.

Dr. Joshua Degani, IOPtima CEO says, “Receiving the EPO approval is another important milestone for IOPtima which further validates and strengthens our position towards launching our product in Europe. Recently, we have obtained a CE mark of approval after successfully completing clinical testing in leading medical centers in Europe, Italy, Spain, and Russia. We believe that we can provide an effective and viable solution to millions of people suffering from this chronic eye disease that require constant treatment.

It is estimated that by 2010, approximately 12 million people in Europe, will suffer from glaucoma. The cost of medication treatment of glaucoma, the currently most common form of treatment, is estimated to be above $3 billion every year worldwide. Such medication, though initially effective, are challenged by very poor patient compliance and, at times, limited long term efficacy. In light of these, we believe that the IOPtiMate TM system offers an effective, safe and efficient solution to a huge and dire need. Our system has demonstrated to provide a quick, safe, and long term treatment that is comfortably priced, as compared to alternative treatments offered today.”

IOPtima is launching its next generation IOPtiMate TM system the “OT-135″at the 2009 AAO conference, currently taking place in San Francisco. The advanced model of this technology includes operational modifications, ergonomic and other improvements to the system. The company is currently running a Wet Lab demonstration at the conference where leading glaucoma surgeons worldwide are training the IOPtiMate TM system on cadaver eyes. The company believes that this demonstration will assist and highlighting the IOPtiMate advantages as compared to alternative treatments available for glaucoma.

Source
IOptima

One of Southampton’s leading eye specialists is part of a team of international experts that has discovered a gene mutation that causes glaucoma.

The condition, which is one of the world’s leading causes of blindness and affects over 1% of the population over the age of 40, results in damage to the optic nerve and irreversible loss of vision.

It is currently treated by lowering pressure within the eye by taking drops or via surgery – but this is not effective in all patients and those who are diagnosed often do not identify symptoms until their sight has already deteriorated.

Professor Andrew Lotery and fellow consultant ophthalmologists Mr Alex MacLeod and Mr Aby Jacob at Southampton General Hospital’s eye unit and Dr Jane Gibson and Dr Sarah Ennis of the University of Southampton, along with colleagues in Iceland, Australia, Hong Kong, China, Sweden and the USA, have all contributed to uncovering a new gene that may change this.

It is believed the breakthrough will lead to earlier detection of glaucoma.

The mutation is common among Europeans, with approximately 6% carrying two copies, putting them at 60% greater risk of developing the disease than those who carry none.

“In order to make progress in this disease, we need to better understand the basic biological processes which lead to glaucoma,” said Professor Lotery, professor of ophthalmology at the University of Southampton. “By doing this, we can then start to develop better treatments.”

“Our work in helping identify a novel gene and biological pathway for glaucoma is an important step forward in this respect.”

He added: “Previously we have seen how finding genes for macular degeneration is now leading to the development of novel clinical treatments and we expect this work in glaucoma will eventually have the same result.”

In 2008, Professor Lotery’s lab team in Southampton identified a major new genetic association with age-related macular degeneration. The gene, named SERPING1, is faulty in up to 25 per cent of sufferers.

Results of the glaucoma study were published earlier this week in the journal Nature Genetics. The groundbreaking project was supported by the Gift of Sight appeal

Source:

Southampton University Hospitals NHS Trust

Earl L. Smith III, O.D., dean of the College of Optometry and Greeman-Petty Professor at the University of Houston (UH), is the 2010 recipient of the Charles F. Prentice Medal Award from the American Academy of Optometry (AAO).

Established in 1958, this honor is awarded annually to an outstanding scientist who has contributed significantly to the advancement of knowledge through research in the visual sciences and is the highest distinction given by the AAO. Smith was recognized during the organization’s annual meeting in San Francisco.

“Smith’s career has resulted in a number of innovative and helpful discoveries in visual development, binocular vision and related areas, both for understanding basic mechanisms and for application to clinical practice,” said Chris A. Johnson, chair of the AAO awards committee. “His work represents an exceptionally good role model for young investigators to aspire to.”

One particular breakthrough in which Smith was involved this year is the discovery of new technologies to control myopia, better known as nearsightedness. Affecting more than 1.6 billion people globally, myopia afflicts 128 million people in the United States. If left undetected, the condition progresses and can not only adversely impact a child’s education and social development, but also significantly increases the risk of cataracts, glaucoma and retinal detachment as people age.

“Our research provides new insight into refractive development, as well as having practical implications for the clinical management of myopia,” Smith said. “Refraction is the ability of the eye to bend light so that an image is focused on the retina, and this changes as a person matures. When someone becomes nearsighted, distant images become focused in front of the retina instead of on it, as it needs to be for clear vision.

“Traditional visual correction for this condition has been to manipulate visual images only forward and backward with corrective lenses. It’s now been discovered, however, that the peripheral retinal image plays a major part in stimulating eye growth and myopia. So, in partnership with the Vision Cooperative Research Centre in Sydney, we’ve developed glasses and contact lenses intended to control myopia progression by manipulating peripheral optics.”

These new methods Smith and his colleagues have been studying represent a fundamental shift in the approach to optical interventions for controlling refractive development. Their preliminary results have provided proof that peripheral optical manipulations can indeed slow myopia progression. The group’s next steps will be to embark on longer-term clinical trials and optimize the lens designs they’ve developed thus far.

Source:
Lisa Merkl
University of Houston

In a paper published in the journal Science, scientists from deCODE genetics (Nasdaq:DCGN) and academic colleagues from the National University Hospital in Reykjavik and Uppsala University in Sweden report the discovery of two common single letter variations (SNPs) in the sequence of the human genome that appear to account for virtually all cases of a major subtype of glaucoma. The SNPs are located in the LOXL1 gene on chromosome 15, and confer respectively 26-fold and 8-fold increases in risk of exfoliation glaucoma compared to the low-risk versions of the same markers. Approximately 25% of those in the Icelandic and Swedish study cohorts were found to have two copies of the highest risk variant, putting them at approximately 100 times the likelihood of developing exfoliation glaucoma (XFG) as are individuals with the low risk version of the same SNP. The LOXL1 protein encoded by the gene is involved in the formation of elastin fibers which, when they accumulate in the eye, cause XFG.

The paper, entitled “Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma,” is published in the online edition of Science, and will appear in an upcoming print edition of the journal.

“This discovery is remarkable and important because the genetics has led us directly to what appears to be the sole cause of a devastating common disease. The risk conferred by these variants is such that it accounts for virtually all cases of exfoliation glaucoma, meaning that if we can neutralize the impact of these variants we might eliminate the disease. The LOXL1 protein made by this gene appears to play a role in the accumulation of microfibullar deposits that causes XFG, providing a promising mechanism to target for developing therapy. We plan to conduct additional studies to examine how we can take advantage of this finding to begin drug discovery,” said Kari Stefansson, CEO of deCODE.

The deCODE team discovered the variants by first analyzing more than 300,000 SNPs in Icelandic and Swedish glaucoma patients and control subjects, utilizing the Illumina Hap300 SNP chip. One SNP was strongly linked to exfoliation syndrome, in which fibrous deposits begin to accumulate in the front of the eye but have not yet begun to impair vision. Analysis of additional SNPs in public databases and which were not included on the chip led to the identification of the two risk variants — allele G of rs1048661 and allele G of rs3825942 — strongly linked to XFG in Icelandic and Swedish case-control cohorts. A combined total of some 16,000 patients and control subjects participated in the study.

Glaucoma is one of the most common causes of blindness worldwide. There are various types of glaucoma, all of which lead to damage in the optic nerve and progressive loss of vision. Exfoliation glaucoma is caused by the buildup of fibrous deposits on the surfaces on the front of the eye. Between 10-20% of people over the age of 60 are believed to have some degree of exfoliation syndrome, and perhaps more than half of these individuals will go on to develop exfoliation glaucoma. The progression of glaucoma can be slowed using various medications that promote the drainage of fluids from the eye and reduce pressure on the optic nerve. However, exfoliation glaucoma is often resistant to drug treatment. Little has been understood to date about the pathophysiology of the disease and there are no treatments targeting the underlying causes of the condition.

Source: Berglind R. Olafsdottir

deCODE genetics

The European Medicines Agency (EMEA) has been formally notified by
Bausch & Lomb Ireland of its decision to withdraw the application for a
centralised marketing authorisation for the medicinal product Retisert
(fluocinolone acetonide) 590 microgram Intravitreal Implant.

Retisert was expected to be used for the treatment of chronic
non-infectious uveitis affecting the posterior segment of the eye.
Retisert was designated as an orphan medicinal product on 7 March 2005.

The application for marketing authorisation for Retisert was submitted
to the EMEA on 8 September 2006. At the time of the withdrawal, it was
under review by the Agency’s Committee for Medicinal Products for Human
Use (CHMP).

In its official letter, the company stated that the withdrawal of
Retisert was based on the CHMP’s request for additional information, to
which the company was unable to respond within the permitted timeframe.

More information about Retisert and the state of the scientific
assessment at the time of withdrawal will be made available in a
question-and-answer document. This document, together with the
withdrawal letter from the company, will be published on the EMEA
website in due course.

1. Withdrawal of an application does not prejudice the possibility
of a company making a new application at a later stage.

2. This press release, together with other information on the work
of the EMEA, can be found on the EMEA website: emea.europa.eu

Ophthalmologists and others who are looking for the latest clinical information on eyes and vision now have a powerful, new online resource: EyeWiki. This month the American Academy of Ophthalmology (Academy) and key ophthalmic specialty societies and organizations launched EyeWiki. Like the collaborative online encyclopedia Wikipedia, EyeWiki can be viewed using any web browser. Unlike Wikipedia, only ophthalmologists (Eye M.D.s) or ophthalmologists-in-training can post or edit information on EyeWiki. Now anyone with web access can benefit from the expertise of American and international ophthalmologists – the doctors who research new treatments and care for patients around the globe.

“This fascinating project promotes a new level of collaboration and information sharing among ophthalmologists,” said EyeWiki Editor-in-Chief, Aaron Miller, MD. “It pools the ophthalmic community’s knowledge to create the best, most up-to-date information. And it offers the public a unique resource for in-depth clinical information on eye conditions that compliments general patient information.”

“We’ll be working hard to ensure that this ‘living textbook’ of our ophthalmic community reflects the high standards of our profession while maintaining the openness and simplicity of a wiki,” said Deputy Editor-in-Chief, Brad Feldman, MD. “Thousands of ophthalmologists will soon be using this resource as we care for our patients, and I want to be sure the information we need is just an ‘EyeWiki search’ away.”

No special software or skills are required to contribute. After registering, ophthalmologists can begin writing entries and adding images or videos.

EyeWiki section editors and other Academy members have already written and posted more than 60 articles. While the general ophthalmic community self-moderates the information posted on EyeWiki, content generation is supervised by Drs. Miller and Feldman. Editorial boards representing each subspecialty review material from time to time for quality assurance, with the power to delete information or request revisions.

Section editors for the nine subspecialties represented on EyeWiki were selected from nominees submitted by the American Society of Cataract and Refractive Surgery, the Cornea Society, the American Glaucoma Society, the North American Neuro-Ophthalmology Society, the American Society of Ophthalmic Plastic and Reconstructive Surgery, the American Association for Pediatric Ophthalmology and Strabismus, the American Society of Retinal Specialists, the Macula Society, the Retina Society, the American Uveitis Society, Women in Ophthalmology and the Contact Lens Association of Ophthalmologists.

The EyeWiki section editors are:

– Cataract Dick Shugarman, MD

– Cornea Penny Asbell, MD

– Glaucoma Sarwat Salim, MD

– Neuro-Ophthalmology Edmond FitzGibbon, MD

– Oculo-plastic Surgery Marcus Marcet, MD

– Pediatrics K. David Epley, MD

– Refractive Natalie Afshari, MD

– Retina Vinay A. Shah, MD

– Uveitis Russell Read, MD, PhD

Source:

American Academy of Ophthalmology

Inspired by nature’s complex mechanism of converting visual information into chemical signals at the nerve junction, a group of University of Illinois at Chicago researchers is studying a chemical approach to treating retinal diseases in which neurotransmitters would be delivered to the retina through specially engineered micro- and nanoscale implanted devices.

The National Science Foundation has awarded UIC’s multidisciplinary team a four-year, $2 million grant to conduct its work. The NSF’s Office of Emerging Frontiers in Research and Innovation approved the highly competitive award to Laxman Saggere, associate professor of mechanical and industrial engineering; David Pepperberg and Haohua Qian, respectively professor and associate professor of ophthalmology and visual sciences; and Scott Shippy, associate professor of chemistry.

While the growing incidence of age-related vision loss due to retinal degenerative diseases has spawned considerable research — and progress toward finding cures — complete vision restoration remains an elusive goal. Some efforts focus on implants that stimulate the retina electrically to restore sight.

“If we can understand the optimal delivery conditions of neurotransmitters that could efficiently trigger neuronal response, then we could engineer a chemical interface at the retina to stimulate retinal cells under photo control and potentially generate neuronal signals in the retina, even though photoreceptor cells are damaged or lost due to disease,” said Saggere.

The UIC team will study natural, or native, neurotransmitter chemicals and tethered synthetic biomolecules to learn how each can be delivered to compensate for damaged retinal cells, and what are the advantages and disadvantages of each, before they design a delivery system implant.

“Each class of neurotransmitters has advantages,” said Saggere. “Natural are biocompatible, their biochemical and physiological properties are well-known, but they’re diffusible and hard to contain at the precise stimulation sites,” he said. Synthetic biomolecules, he said, can be tethered to microscale structures or packaged for precise delivery to where they’re needed, plus they are potentially long-lasting. “But we don’t yet know the optimal conditions to attach them to engineered probes or structures, or how effective they are at producing a physiological response,” he said.

Saggere will develop microfabricated structures that can be activated at the cellular level. He will also design microfluidic dispensers to package and deliver natural neurotransmitters to retinal tissue in a controlled manner.

Pepperberg and Qian will synthesize the biomolecules and develop methods for attaching them to the engineered probes that will be presented to retinal cell receptors in a controlled environment. They will also study the electrophysical response of the neurons triggered by the neurotransmitters.

Shippy will study the release characteristics of natural neurotransmitter chemicals on retinal tissue to determine optimal amounts needed and other characteristics that will help restore sight. Experiments will be done in vitro, or outside living organisms, to develop a complete understanding of the chemistry and physiology of this proposed therapy route.

“We want to understand the biomimetic (human-engineered) way of triggering cell response so we can present the correct neurotransmitters in a controlled manner,” Saggere said. Better understanding of these mechanisms, he said, may lead to new therapies and applications for other neurological diseases, such as Parkinson’s.

Source: University of Illinois at Chicago

This is a VISION 2020 UK one-day, cross-sector conference hosted by RNIB and supported by the Department of Health.

When: Thursday 4 June 2009, 9.30am to 4.30pm

Where: The Queen Elizabeth II Conference Centre, London.

Who should attend? Professionals working to develop, deliver or commission services in the fields of eye health and/or sight loss, including health, social care and the voluntary sector.

Cost: Voluntary sector delegates ??45, all other delegates ??80 (inc. VAT)

To book: Call 020 7391 2157, email registrationvisionuk2009 or visit here.

The day’s agenda for action will:

– address the three core outcomes of the UK Vision Strategy
– share experiences from across the UK of implementing the Strategy and bringing about real change
– reveal key learnings of the Future Sight Loss UK research: a major study that will inform and influence commissioning of all vision-related services
– stimulate debate on where we need to go next and how to get there.

Speakers and panellists include:

– Ben Dyson: Director of Primary Care, Department of Health
– Anne Bristow: Corporate Director, Adult and Community Services, Barking and Dagenham, policy lead on Sensory Impairment for ADASS
– Nick Astbury, FRCOphth FRCP: Consultant Ophthalmic Surgeon and Chair of Vision 2020 UK
– Richard Wormald, FRCOphth: Consultant, Moorfields Eye Hospital
– Lesley-Anne Alexander: CEO, Royal National Institute of Blind People (RNIB)

Call for posters

Abstracts are invited from organisations wishing to share their experiences to date of supporting the work of the UK Vision Strategy. There are four different themes relating to the three strategic outcomes and over-arching activity. Posters will be open to view by delegates throughout the conference.

Poster content:

Category 1: Improving the eye health of the people of the UK
Category 2: Eliminating avoidable sight loss and delivering excellent support for people with sight loss
Category 3: Inclusion, participation and independence for people with sight loss
Category 4: Over-arching work – subject areas relating to the UK Vision Strategy that do not fall within any one specific strategy outcome.

All abstracts must be submitted by 5 May 2009. For further information and presentational guidelines contact 0207 391 2043 or email ukvisionstrategyrnib.

The UK Vision Strategy is a ground-breaking UK-wide initiative which seeks a major transformation in the UK’s eye health, eye care and sight loss services. The strategy was launched in April 2008 in response to a World Health Assembly global resolution to reduce avoidable blindness by the year 2020 and to improve support and services for blind and partially sighted people.

Source
Yashoda Sutton
Senior Media Relations Officer – Policy and Campaigns
Royal National Institute of Blind People
105 Judd Street
London WC1H 9NE