Mouse Model Shows Gene Therapy Can Reverse Blue Cone Vision Disorder

MedicalResearch.com Interview with:

Wen-Tao Deng,

Dr. Wen-Tao Deng

Wen-Tao Deng, Ph.D.
Department of Ophthalmology, College of Medicine|
University of Florida, Gainesville, FL

MedicalResearch.com: What is the background for this study? What are the main findings?

Response: Blue cone monochromay (BCM) is a devastating vision disorder characterized by loss function of both L- and M-cones due to mutations in the L- and M-opin gene cluster on the X chromosome. BCM patients display severely reduced visual acuity, loss of color-vision, myopia, nystagmus, and minimally detectable cone-mediated electroretinogram. In our studies, we showed that an M-opsin knockout mouse model resembles human BCM, and expression of either human M- or L-opsin individually or combined through adeno-associated viral vector promotes regrowth of cone outer segments and rescues M-cone function in the treated M-opsin dorsal retin

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Optic Nerve Stroke: Bone Marrow Stem Cells Offer Hope of Vision Improvement

MedicalResearch.com Interview with:
Steven Levy MD

CEO, MD Stem Cells
Study Director, Stem Cell Treatment Studies

MedicalResearch.com: What is the background for this study?

Response: MD Stem Cells is the sponsor of the Stem Cell Ophthalmology Treatment Study II (SCOTS 2) the largest stem cell study currently addressing retinal and optic nerve disease (NCT 03011541). SCOTS uses autologous bone marrow derived stem cells (BMSC) typically provided to the eyes by combining retrobulbar, subtenons and intravenous injections. Many retinal and optic nerve diseases are eligible including Retinitis Pigmentosa (RP), Age Related Macular Degeneration (AMD), Stargardts, Ushers, Glaucoma, Ischemic Optic Neuropathy, Optic Atrophy and others. Statistically significant improvements have been documented in key diseases and positive responses have been noted across most conditions treated. Mechanisms of action may include differentiation of the CD34 cells into neurons, secretion of neurotrophic factors, transfer of mitochondria and release of mRNA. These may benefit existing stressed cells as well as provide replacement of damaged or absent cells.

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LUXTURNA Proves Effectiveness of Single Gene Therapy To Cure Rare Cause of Blindness

MedicalResearch.com Interview with:

Dr. Stephen M. Rose, PhD Chief Research Officer Foundation Fighting Blindness

Foundation Fighting Blindness

Dr. Stephen Rose PhD
Chief Research Officer
Foundation Fighting Blindness (FFB)

Dr. Rose comments on the announcement of the FDA approval of voretigene neparvovec (LUXTURNA™) gene therapy for inherited blindness due to mutations in the RPE65 gene.

What is the background for this announcement? What were the main findings from the study?

Response: While it has been 30 years since the RPE65 gene was identified as causing Leber’s Congenital Amaurosis, this shows that it is possible to have an effective gene therapy for an inherited disease. As the first gene therapy for the eye or for an inherited disease, LUXTURNA is a historic milestone in the search for cures for all inherited retinal diseases (IRDs). As a one-time gene therapy, LUXTURNA will not only be life-changing for patients with vision loss due to mutations in the RPE65 gene, it also provides critical momentum for gene therapies – for the eye and other diseases – now in the clinic.  Continue reading

Complement Genes Play Role in Age-Related Macular Degeneration

MedicalResearch.com Interview with:

dr-anneke-i-den-hollanderAnneke I. den Hollander, PhD
Department of Ophthalmology and Department of Human Genetics
Donders Institute for Brain, Cognition, and Behaviour
Radboud University Medical Center
Nijmegen, the Netherland

MedicalResearch.com: What is the background for this study? What are the main findings?

Response: Age-related macular degeneration is caused by a combination of genetic and environmental factors. Rare genetic variants in the complement system have been described in AMD, but their effect remains largely unexplored. In this study we aimed to determine the effect of rare genetic variants in the complement system on complement levels and activity in serum.

MedicalResearch.com: What are the main findings?

Response: Carriers of CFI variants showed decreased FI levels, carriers of C9 Pro167Ser had increased C9 levels, while C3 and FH levels were not altered. Carriers of CFH and CFI variants had a reduced ability to degrade C3b, which for CFI was linked to reduced serum FI levels.

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Rolex Winner PEEK Vision Allows Smartphone-Based Eye Exams In Resource Poor Settings

MedicalResearch.com Interview with:
Dr. Andrew Bastawrous, Ophthalmologist

Rolex Awards for Enterprise
United Kingdom

Dr. Bastawrous’ smartphone-based portable eye examination system, Peek Vision, allows patients in low resource setting, to be screened for vision problems and eye diseases, enabling accurate diagnosis and treatment.

MedicalResearch.com: What is the background for Peek Vision? What are the main findings of your work with this system?

Response: Mama Paul has been blind for almost 20 years, most of her time is spent within the safety of her tiny home. It is basic, but in her mind’s eye she can still picture where the door is, her son – Paul, lives next door and is always willing to help.

Losing sight is the sense most people fear losing most.

I am severely visually impaired, I am also fortunate to have perfect vision when wearing corrective glasses or contact lenses and privileged to be in the profession of ophthalmology where centuries of research and practice have brought us to a time when so much of blindness is now curable or preventable.

There is no feeling like it: when the eye patch comes off someone who hasn’t seen for years, the sheer wonder as they take in their surroundings and their anticipation to see faces that have become voices and places that have become memories.

Back in 2011, as I pondered and planned for the challenges that lay ahead of us in Kenya, I had the continual thought that there must be an easier way to reach people, a way that is less expensive, less resource hungry and therefore could be used on a much wider scale.

In Kenya, and much of Africa, more people have access to a mobile phone than they do clean running water. It had to be possible to harness this connectivity.

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Visual Training Can Reduce Extent of Functional Blindness

Paul Miller PhD student The University of Queensland Australia
MedicalResearch.com Interview with:

Paul Miller PhD student
The University of Queensland
Australia


Medical Research: What is the background for this study? What are the main findings?

Response: All humans have a blind spot in each eye where the optic nerve, which sends signals to the brain, passes through the retina, the light sensitive layer in each eye. Where this happens you cannot detect light, so people are blind to images that project to this location.

Behaviorally, people tend to report blindness for an area that is larger than physiology dictates. We found this curious, and thought it might be driven by people reporting blindness for regions that border the blind spot, where sensitivity is degraded, but not absent. If so, we thought that this could be improved by training. When we tested this theory, we found it was true – we were able to reduce the extent of functional blindness by about 10%.

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More Powerful Gene Vector Aims To Restore Vision In Inherited Blindness

Professor James Bainbridge, MA, PhD, FRCOphthProfessor of Retinal Studies, UCL Institute of Ophthalmology NIHR Research Professor, NIHR Biomedical Research Centre at Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of OphthalmologyMedicalResearch.com Interview with:
Professor James Bainbridge,
MA, PhD, FRCOphth
Professor of Retinal Studies, UCL Institute of Ophthalmology
NIHR Research Professor, NIHR Biomedical Research Centre at Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of OphthalmologyConsultant Ophthalmologist, Moorfields Eye Hospital NHS Foundation Trust

Medical Research: What is the background for this study? What are the main findings?

Prof. Bainbridge : Leber Congenital Amaurosis (LCA) is one of the most common causes of inherited, untreatable blindness in children. There are at least 14 different types of Leber Congenital Amaurosis of which LCA Type 2 (LCA2), caused by defects in the gene RPE65, affects around one in 100,000 people worldwide. Evidence from animal studies support that LCA2 may be amenable to treatment with RPE65 gene replacement therapy.

The main findings of this phase I/II clinical trial confirm our preliminary findings (published in NEJM, 2008) that gene therapy can improve night vision. Improvements peak within the first 12 months after treatment but then decline during the three-year follow-up period which is consistent with the published results and interim findings from other studies of RPE65 gene therapy.

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Reversing Blindness With A Wireless Nanotube System

MedicalResearch.com Interview with:
Lilach Bareket
School of Electrical Engineering, Tel Aviv University Center for Nanoscience and Nanotechnology, and School of Chemistry,
Tel Aviv University, Tel Aviv 69978, Israel

Medical Research: What is the background for this study?

Response: Neuro-prosthetic devices aim to restore impaired function through
artificial stimulation of the nervous system. Visual prosthetic
devices, operating by light activation of neurons, are presently
developed as an approach to treat blindness. In particular, in the
case of patients suffering from age-related macular degeneration in
which the photoreceptors in the retina degenerate.
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African Americans Have Highest Rates of Diabetic Macular Edema

Rohit Varma, MD, MPH Grace and Emery Beardsley Professor and Chair USC Department of Ophthalmology Director, USC Eye Institute Associate Dean for Strategic Planning and Network Development Keck School of Medicine of USCMedicalResearch.com Interview with:
Rohit Varma, MD, MPH
Grace and Emery Beardsley Professor and Chair
USC Department of Ophthalmology
Director, USC Eye Institute
Associate Dean for Strategic Planning and Network Development
Keck School of Medicine of USC

Medical Research: What are the main findings of the study?

Dr. Varma: Our research demonstrates African-Americans bear a heavier burden of diabetic macular edema (DME), one of the leading causes of blindness in diabetic patients in the United States, compared to Non-Hispanic whites. The study points to a need for improved screening and greater attention to vision loss by clinicians and patients particularly those who are at high risk of developing diabetic macular edema.
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Visual Impairment Among U.S. Adults and Age-Related Eye Diseases

Chiu-Fang Chou DrPH Division of Diabetes Translation National Center for Chronic Disease Prevention and Health Promotion CDC, 4770 Buford Hwy, NE (K-10) Atlanta GA 30341-3727MedicalResearch.com Interview with: Chiu-Fang Chou DrPH
Division of Diabetes Translation National Center for Chronic Disease Prevention and Health Promotion CDC, 4770 Buford Hwy, NE (K-10)
Atlanta GA 30341-3727

MedicalResearch.com: What are the main findings of the study?

A: We estimated nearly 9 million people aged 40 years and older are visually impaired using the National Health and Nutrition Examination Survey. Three out of every four people aged 40 years and older with VI have uncorrected refractive error that could be easily corrected with simple glasses or contact lenses. The ocular disease most associated with visual impairment in our study sample was age-related macular degeneration. Finally, increasing age and low educational attainment were significant predictors of visual impairment.

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Blindness: Israel Dramatically Reduces New Cases

Michael Belkin, MA, MD Professor of Ophthalmology Director, Ophthalmic Technologies Laboratory Goldschleger Eye Research Institute Tel Aviv University Sheba Medical Center Tel Hashomer 52621 IsraelMedicalResearch.com Interview with: Michael Belkin, MA, MD
Professor of Ophthalmology
Director, Ophthalmic Technologies Laboratory
Goldschleger Eye Research Institute
Tel Aviv University
Sheba Medical Center Tel Hashomer 52621
Israel

MedicalResearch.com: What are the main findings of the study?

Dr. Belkin: Modern ophthalmic treatment, when freely available is able to reduce the incidence of blindness, and presumably visual impairment considerably. In Israel the rate of new cases of blindness per 100.000 people [age adjusted] was reduced between 1999 and 2010 from 33.8 to 14.8, i.e., by over 56%. The reduction was in all major causes of blindness, Age-related Macular Degeneration (AMD), Glaucoma, Diabetic Retinopathy and Cataract. In the non-treatable retinal dystrophies such as retinitis pigmentosa, there was no significant changes over this period.
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