Retina Week

Retina International joins global effort during AMD Week  September 21-27 to address "alarming" lack of understanding about Age-related Macular Degeneration, the leading cause of blindness for people over 50.

To read more please read the following press release: Retina Week September 21-27 2009

Promises and challenges of genetic therapies for blindness   

Please read the extract published by the British journal lancet with very interesting data on gene therapy.

Special Recognition AWARD by ARVO to our President Ms Christina Fasser

The Management Committee of Retina International is proud to announce that our President Ms Christina Fasser has been selected as a recipient of a SPECIAL RECOGNITION AWARD by ARVO- the Association for Research in Vision and Ophthalmology.

We congratulate Ms Fasser on this award which is richly deserved and is a fitting international recognition of the years of dedicated service that she has given to fighting retinal vision loss.

The Award will be presented at the 2010 ARVO Congress. This annual congress is the most prestigious international Ophthalmology congress and is held in Fort Lauderdale, Florida, USA.

ARVO is the largest and most respected eye and vision research organization in the world, whose members include more than 12,600 researchers from over 80 countries. ARVO encourages and assists research, training, publication and knowledge-sharing in vision and ophthalmology.

Please read the statement of the Retina International Management Committee.  

"Gene therapy deliver bonus results" by the group of  W. Hauswirth and S. Jacobson  

Prof. Joe Hollyfield and Prof. Alan Bird honored

ARVO annual awards

ARVO will present several awards at the annual meeting, including the Proctor Medaland Friedenwald Award, ARVO’s highest honors, which are presented for outstanding research in the basic or clinical sciences as applied to ophthalmology.

This year the awards are given to tow persons that have done enormous contributions to our cause and were always assisting us in reaching our goals. We congratulate prof. Joe Hollyfield (Chairman of the Retina International Scientific and medical Advisory board) and Prof. Alan bird (member of the Retina International Advisory Board) to this awards so well deserved.

The Proctor Medal is being awarded to Joe G. Hollyfield, PhD, of the Cleveland Clinic Cole Eye Institute. He is being honored for his work that has significantly advanced the understanding of the cell biology of photoreceptors, interphotoreceptor matrix, and the pigment epithelium. He will give his lecture, "Progress in understanding the initiating events in age-related macular degeneration,".

The Mildred Weisenfeld Award, presented in recognition of distinguished scholarly contributions to the clinical practice of ophthalmology, will be given to Alan Bird, MD, FMedSci, Institute of Ophthalmology, University College London. This award is being presented for his masterful knowledge of both clinical and basic vision science as one of the foremost experts in the field of inherited retinal diseases and age-related macular degeneration. He will give his lecture, "Toward biological treatment of retinal diseases,".

Emerging Treatment Stabilizes Vision in People with Dry DMD

An innovative technology, employing a tiny capsule implanted in eye, is stabilizing vision in people suffering from dry age-related macular degeneration (AMD). Encapsulated Cell Technology (ECT), developed by Rhode Island-based Neurotech, preserved vision in a mjority of the 51 people who participated in a Phase II clinical trial.

Read more: Link to press release of FFB

Neurotech Pharmaceuticals, Inc., today announced that the Company's lead product candidate, NT-501, substantially slowed the loss of vision in a Phase 2 clinical trial in subjects with dry age-related macular Degeneration

Read more: here link to Neurotech Press Release

Rare disease day February 28, 2009

Leading Vision Group supports International Rare Disease Day 2009

New Gateway to Vision Research

Many things are changing and a clear visibility of European Vision Research and Ophthalmology is needed more than ever.

Let's work hand in hand to reach this goal.

1. The ‘Gateway to Vision Research’ is an open (non-commercial) science-driven platform for all major stakeholders in the field, public and private, researcher, clinician, company, funder and patient-organization funded by the EU

1. MORE: http://www.vision-research.eu/
2. 2. Over 130 news in the first three months, more than 100 conferences and workshops listed at present, more than 70 researchers listed their portfolio. What a success!
3. 3. Invitation to submit Expressions of Interest. An opportunity for the European Vision Research community
4. MORE: http://www.vision-research.eu/index.php?id=343
5. 4. Improve the international visibility of your institution and/or clinic
6. MORE: http://www.vision-research.eu/index.php?id=24
7. 5. Insert a link on your website to the ‘Gateway to Vision Research’ in Europe. Support the networking and cooperate identity of our scientific field.

Please inform your staff on the unique possibilities under http://www.vision-research.eu/

Neurotech Granted Fast Track Designations from the FDA for NT-501 in two Indications: Retinitis pigmentosa and Dry Age-Related Macular Degeneration (September 07 2008 - DOC)

This is great news, says Christina Fasser President of Retina International, and we're awaiting impatiently the announced exciting results early next spring.

Please read here the press-release by Neurotech!

Positive Results from First Human Clinical Trials for LCA/RPE65

At the Annual Meeting of ARVO, two major research successes have been published; both show positive results in the first clinical trials for gene therapies in retinal degenerative disease causing childhood blindness.

The research groups of Prof Jean Bennett in the USA and Prof. Robin Ali in the UK will be published simultaneously in the New England Journal of Medicine. Both groups report that the treatment prooved to be safe and lead to some improvements in vision. However, this is a first experimental treatment and is not available to patients yet.

These results present a major step towards a treatment of inherited retinal diseases. We are proud to know that both initiatives were crowned by success and supported financially by our member organisations.

Prof. Robin Ali will speak at the 15th Retina International Conference on July 4th and 5th, 2008!

Neurotech launches Phase II/III clinical trial for treatment of RP using ECT implant

Encapsulated cell therapy (ECT) refers to the insertion of a tiny device containing retinal cells, which release a protein called ciliary neurotrophic factor (CNTF), into the eye. The hope is that the protein will “rescue” photoreceptors and reduce vision loss in patients with Retinitis Pigmentosa (RP), Usher type II & III, and choroideremia. Enrollment has begun for a Phase II/III clinical study to test ECT’s effectiveness and safety, monitor side effects, compare it to commonly used treatments, and collect information that will allow the treatment to be used safely. Neurotech Pharmaceuticals is carrying out the clinical trials at 14 sites in the U.S.

W. Tao, Neurotech USA, Inc, Rhode Island, USA

Clinical trial of gene therapy for Stargardt’s disease planned

Researchers from Oxford BioMedica and Columbia University are planning to launch a clinical study of a gene therapy for Stargardt’s disease. The therapy is called StarGen. Stargardt’s disease is caused by a mutation in the ABCA45 gene needed for the production of a protein involved in normal photoreceptor cell functioning. The therapy involves transferring a normal ABCA4 gene to photoreceptors of the retina using Oxford BioMedica’s proprietary lentiviral vector delivery system. StarGen has achieved positive results in an animal model of Stargardt’s disease.

J.Kong, S.R. Kim, K.Binley, K.Doi, S.Naylor, J.R. Sparrow, P.Gouras, R.Allikmets. Ophthalmology, Columbia University, New York, USA.

Phase II clinical trial demonstrates some benefit from transplanted developing retinal cells in RP

Researchers report that implanting a sheet of developing retinal and RPE (retinal pigment epithelial) cells under the fovea of six patients with Retinitis Pigmentosa and four patients with age-related macular degeneration improved visual acuity in three of the RP and two of AMD patients. (A RP patient who had received an implant two years earlier continued to maintain better visual acuity, going from 20/800 to 20/200.) The researchers are continuing to study this retinal transplantation at their facility in Louisville, Kentucky.

N.D. Radtke, M.J. Seiler, H.M. Petry, D.Pidwell, R.B. Aramant. Retina Vitreous Resource Center, Louisville, KY, USA.

LCA gene therapy trials planned

Scientist-clinicians from the University of Pennsylvania plan to conduct a clinical trial of gene therapy for Leber’s Congenital Amaurosis (LCA), at Children’s Hospital of Philadelphia. The treatment, which has successfully restored functional vision in more than 50 dogs with LCA, is about to be tested in children and adults with LCA caused by variations in the RPE65 gene. The gene therapy is delivered to retinal pigment epithelial cells using an adeno-associated virus (AAV) vector. The researchers reported at the ARVO 2007 Annual Meeting on the success of their work to optimize the delivery system.

(a) J. Bennett. Scheie Eye Institute, Philadelphia, USA.
(b) W. Hauswirth, Dept of Ophthalmology, Univ of Florida Coll of Medicine, USA.
(c) Alan Robin, Ophthalmology & Intl Health, Johns Hopkins Univ, Baltimore, MD, USA.

Artificial Vision

Spatial resolution in RP patients with the Second Sight retinal prosthesis

Researchers asked blind patients who had a Second Sight retinal prosthesis secured to their retina to indicate the location of perceived light flashes (phosphenes) that were elicited when particular electrodes in the prosthesis were stimulated. They found that the location of the flashes were consistent with the position of the electrodes on the retina. In addition, they report evidence of a direct relationship between visual performance and the number of active electrodes in the retinal prosthesis. The ability to spatially resolve patterns of light could help patients identify environmental cues.

(a) M.J. McMahon et al. Second Sight Medical Prod Inc, Sylmar, C, USA.
(b) Retina Institute, Doheny Eye Institute, Los Angeles, CA, USA.

AV-DONE optic nerve stimulation elicits phosphenes in RP patients

Electrodes inserted into the optic nerve of two RP patients who had the ability to perceive light only, elicited phosphenes that the patients described as either round or oval and between the size of a match head and a football. The approach, called artificial vision by direct optical nerve electrode (AV-DONE), is being studied for broader use.

H.Sakaguchi, E.Yonezawa, H.Kanda, M.Ozawa, M.Kamei, T.Fujikado, O.Ustariz-Gonzalez, A.Solis-Vivanco, H.Quiroz-Mercado, Y.Tano. Ophthalmology, Osaka Univ Medical School, Osaka, Japan.

Response in RP patients to microphotodiode array (MPDA) from Retina Implant GmbH

The outcome in eight RP patients with another subretinal implant - a microphotodiode array (MPDA) from the company Retina Implant GmbH - was also reported at the ARVO 2007 Annual Meeting. Although one patient who had been blind for more than 30 years showed no response to stimulation of the implant, several other patients, in tests of brightness and visual perception, were able to distinguish horizontal lines from vertical lines and the direction of movement of dots. Furthermore, the researchers report, the brightness and size of images were proportional to the amount of voltage applied through the electrodes.

E. Zrenner, Ophthalmology, Center for Ophthalmology, University of Tuebingen Germany.

A study looking at the emotional status of MPDA trial patients found that patients tolerated the stress well and may have even improved their emotional balance during participation.

T.Peters, S.Klingberg, H.Oelman, C.Kuttenkeuler, R.Wilke, T.Zabel, E.Zrenner, B.Wilhelm. STZ Autonomes Nervensystem und Sicherheitsstudien, Ofterdingen, Germany.

Gene Studies

SNP microarrays identify novel mutations in patients with LCA and Juvenile RP

So far, mutations in 11 genes have been associated with autosomal recessive LCA and juvenile RP. Researchers reported on the success of homozygosity mapping using SNP arrays to identify mutations in known genes and to identify new disease-causing genetic variations.

A.I. Den Hollander, I.Lopez, S.Yzer, K.W. Littink, M.A. Musarella, G.A. Fishman, I.H. Maumenee, K.Rohrschneider, F.P. M. Cremers, R.K. Koenekoop. McGill Ocular Genetics Ctr/Pediatric Ophthalmology, McGill Univ Health Centre, Montreal, Canada.

New microarrays for ADRP and XLRP

Researchers report having successfully designed and validated two genotypic microarrays - one for Autosomal Ddominant Retinitis Pigmentosa (ADRP) and the other for X-linked Retinitis Pigmentosa (XLRP) - containing all known associated genes and mutations. They say that this represents the first complete disease chip for ADRP and XLRP. Large-scale screening could facilitate diagnosis, detect new genetic variations, and identify patients for clinical trials and future treatments.

J.Zernant, H.Roomere, I.Lopez, C.Ayuso, S.Banfi, F.P. M. Cremers, R.K. Koenekoop., R. Allikmets. Ophthalmology, Columbia University, New York, USA.

A new mouse model of cone photoreceptor function loss

By testing a variety of mouse strains, researchers recently found one that shows progressive loss of its cone photoreceptor function. The mutation has been named cone photoreceptor function loss 7 (cpfl7). (The 7 refers to the mutation being the seventh associated with cone malfunction in mice.) The researchers have studied the anatomic, genetic, and functional characteristics of the retina in this mouse strain. Genetic analysis reveals an autosomal recessive mutation on mouse chromosome 19. The researchers plan to use the mouse model to study cone photoreceptor function loss.

N.L. Hawes, B.S. Harris, R.E. Hurd, P.Ward Bailey, J.Wang, M.T. Davisson, S.Nusinowitz, J.Heckenlively, B. Chang. Jackson Laboratory, Bar Harbor, ME, USA.

Restoration by gene therapy of retinal function in mouse models of human achromatopsia

Researchers report restoring functional vision in mice with a mutation in a gene (Gnat2) that normally encodes for a protein called alpha-transducin, which is needed by cone photoreceptors for their health and survival. The mice are used as a model to study the human vision disorder achromatopsia. (People with achromatopsia have poor color and central vision because of the loss of cones.) The researchers injected the gene beneath the retina of the mice. Two months later, they tested electrical activity in the retinas and found that most of the mice had responded positively to the gene therapy.

W.Deng, J.J. Alexander, S.H. Min, Q.Li, J.Pang, J.Li, B.Chang, J.Lem, W.W. Hauswirth. Dept of Ophthalmology, Univ of Florida Coll of Medicine, Gainesville, FL, USA.

Gene therapy fails to protect against photoreceptor degeneration in rds mouse

The rds mouse is a model of recessive RP. It lacks a normal gene for making the protein peripherin that is needed by outer segment discs of rod and cone photoreceptor cells. Researchers reported on an effort to protect the photoreceptors through gene transfer of ciliary neurotrophic factor (CNTF). They injected AAV-CNTF intravitreally into one eye of rds mice and, starting four months later, compared the electrical properties and appearance of the retina in treated and untreated eyes. They found that CNTF delivered into the vitreous via gene transfer did not prevent the photoreceptors from degenerating.

R.E. MacLaren, P.K. Buch, A.Georgiadis, M.Tschernutter, R.A. Pearson, A.J. Smith, R.R. Ali. Div of Molecular Therapy, Institute of Ophthalmology/UCL, London, England.

Researchers hope to predict severity and progression rates of ADRP, based on type of mutation affecting rhodopsin protein

Mutations in the gene that encode for the protein rhodopsin account for up to 40% of cases of Autosomal Dominant Retinitis Pigmentosa (ADRP). Researchers looked for a correlation between the severity and progression rates of ADRP and the particular mutation in the gene that then affects a discrete portion of the rhodopsin molecule. In their study of four families with different mutations in the rhodopsin gene, they found that the R135L and R135W mutations caused diffuse, severe disease. The R135W mutation caused more severe and more rapidly progressive RP. The P180A mutation was related to a mild phenotype (observable trait or characteristic) with regional variability. The G188R mutation resulted in diffuse disease of moderate severity. Characterizing the impact of particular rhodopsin mutations will improve the understanding of RP and yield information that could help doctors and patients predict the course of disease.

D.Man, K.T. Gallaher, N.Yanamala, N.Waseem, B.J. Jennings, E.Reese, K.Gerwert, S.S. Bhattacharya1, A.Iannaccone, J.Klein-Seetharaman. Molecular Genetics, UCL Institute of Ophthalmology, London, England.

Researchers have also shown that the same mutation in different people does not always produce the same disease phenotype. This suggests that other genes are modifying the expression of the shared mutation.

D.J. Sidjanin, K.Schneck, E.Reese, A.Iannaccone. Ophthalmology/Hamilton Eye Institute, UTHSC, Memphis, TN, USA.

Smell disorders found in some LCA patients

Mutations in the CEP290 gene are common in patients with Leber’s Congenital Amaurosis (LCA). After a mouse model with a similar genetic defect was found to have an impaired sense of smell, researchers decided to test LCA patients with the CEP290 mutation. They also tested carriers of the defect. They tested four patients and two carriers, all of whom denied problems with smell. Testing, however, revealed that all four patients had significantly abnormal olfactory function. One carrier had a severe reduction in olfaction and the other had a mild reduction. The dysfunction may be related to gene expression in the cilia of olfactory neurons, although not all RP patients with “ciliopathies” have olfactory dysfunction. The researchers suggest that olfactory testing may provide a simple way to identify a subgroup of patients with this particular deficit.

R.K. Koenekoop1, R.Hannant, H.Khanna, D.P. McEwen, P.Jenkins, C.Brown, A.I. den Hollander, F.P. M. Cremers, J.Martens, A.Swaroop. Ophthalmology/Neurology-Neurosurgery, McGill University-Children's Hospital, Montreal, Canada.

Genetic and phenotype study of LCA patients in Italy

Researchers carrying out a comprehensive analysis of gene mutations in Italian patients with LCA, and also a genotype-phenotype analysis, were able to identify genetic mutation in 28% of 95 patients. RPE65, GUCY2D, and CRB1 were the most common mutations. Nearly all RPE65 patients displayed normal macular thickness on OCT scans while those with CRB1 mutations showed reduced macular thickness and a coarsely laminated retina. The fundus fluorescence that was seen in approximately a third of patients with RPE65 and GUCY2D mutations was not visible in CRB1 patients. The researchers plan additional studies to investigate a possible association between fundus autofluorescence and OCT findings.

F.Testa, S.Rossi, P.E. Bianchi, E.Fazzi, M.Fossarello, C.Ziviello, A.Auricchio, E.Rinaldi, F.Simonelli, S.Banfi. Telethon Institute of Genetics and Medicine (TIGEM), Napoli, Italy.

Stem Cell Research

Human embryonic stem cells (hESC) can be urged to become RPE or retinal cells for transplantation

Human cells that are yet to become one type of cell or another can be urged to turn into retinal pigment epithelial cells or retinal progenitor cells, say researchers studying ways to prepare cells for transplantation into the retina of people with degenerative retinal disorders. They studied the influence on hESC, in the lab, of various culture dish environments; they report that the cells took on biologic characteristics of RPE and immature retinal cells.

J.Gong, O.Sagiv, H.Cai, S.H. Tsang, L.V. Del Priore. Ophthalmology, Columbia University, New York, USA.

Other researchers report similar observations taking retinal progenitor cells and growing them in special laboratory (cell culture) environments. The cells showed characteristics of retinal ganglion and bipolar cells. The cell type was confirmed by looking for protein expression that is particular to it.

K.Dutt1, R.Kumar, Y.Cao. Pathology. Morehouse School of Medicine, Atlanta, GA, USA.

Other Areas

Low levels of DHA found in red blood cells of patients with retinal dystrophies

Docosahexaenoic acid (DHA) is a fatty acid normally found in walls of cells throughout the body. It is especially abundant in the retina. When researchers looked at DHA levels in blood as an indicator of retinal DHA they found lower levels in patients with RP compared to normal. Patients with X-linked or Autosomal Recessive RP had the lowest DHA levels (33% below normal). Low levels were also seen in patients with Stargardt’s macular degeneration (17% below normal), Leber’s Congenital Amaurosis (14%), choroideremia (20%), retinoschisis (26%), and cone-rod dystrophy (20%). Nutritional DHA supplementation that elevates blood DHA is under investigation for treatment of RP.

D.R. Hoffman, D.K. H. Wheaton, D.G. Birch. Retina Foundation of the Southwest, Texas, USA.

Additional mouse models for Usher syndrome

New mouse models for studying Usher syndrome have been developed. One is a mouse model of Usher syndrome type 2A. The other is a model of Usher type 1C; this mouse has the same DNA deletion found in the patients. Both mouse models are hearing and vision impaired and can be used to study potential therapies.

J.J. Lentz, W.C. Gordon, H.Farris, S.Sampath, P.D. Deininger, N.G. Bazan1, B.J. Keats. Ophthal & Neuroscience, LSU Health Sciences Center, New Orleans, LA, USA.

Patients with RP report benefits from complementary and alternative medicine

People with RP often state that the quality of their vision is affected by stress. Responses to a survey posted to an on-line forum showed that using complementary and alternative medicine (CAM) can help ameliorate the stress. Respondents reported using nutritional supplements (e.g., lutein, bilberry, vitamin A palmitate, DHA), meditation, yoga, mind-body therapy, massage, movement or energy therapies, acupuncture, and herbal therapy/aromatherapy. The researchers conclude that reports of improvements in vision that patients attributed to CAM, and also the improvements in physical and emotional well-being, require further research in order to validate the findings.

A.K. Kiser, L.Yang, G.Dagnelie. Lions Vision Center, Johns Hopkins University, Baltimore, MD, USA.

Fundus autofluorescence for assessing visual function in RP

Researchers studied, in 186 patients with RP, the correlation between best-corrected visual acuity and the intensity of fundus autofluorescence (FAF) in the macula. They found a significant correlation between the two, indicting that FAF could be a useful tool for assessing macular function in RP.

A.Hagiwara, K.Ogata, K.Okada, S.Mizunoya, T.Sugawara, S.Yamamoto. Department of Ophthalmology, Chiba Univ Grad Sch of Med, Chiba, Japan.

RP in Northern Ireland

Northern Ireland has a population of approximately 1,710,000 people. Among this group, about 475 have RP (21% autosomal dominant; 20% autosomal recessive, 12% X-linked; 47% with no family history). Genotyping revealed mutations involving RHO, USH, and RPGR genes. The researchers see no difference in the epidemiology of RP in Northern Ireland and elsewhere. They propose a Northern Ireland Retinitis Pigmentosa Database.

J.J. O'Neill, G.J. McKay, D.A. Simpson, G.Silvestri. Dept. of Ophthalmology, Queens University Belfast, Belfast, Northern Ireland.

Pan-European database for assessment of clinical and genetic data in AMD

A database has been developed for European clinicians and researchers to conveniently report and analyze clinical and genetic data from patients with AMD. The database is a project of EVI-GENORET, a consortium of academic and industrial partners formed to develop an integrated European database with genotype, phenotype, developmental, and functional data concerning the retina in health and disease. The design of the database and its reporting forms make the database easy to access. There are no special computer software or hardware requirements for users. Clinicians fill out a secure, standardized electronic case report form that they can continue to use to manage subsequent clinical data. For more information, see Cordis’ FP6 program (EC-FP6-512036).

C.Bellmann, H.P. N. Scholl, R.Wilke, A.Webster, U.Chakravarthy, F.G. Holz, O.Poch, J.Cunha-Vaz, J.A. Sahel, E.Zrenner. Ophthalmology, Center for Ophthalmology, University of Tuebingen, Germany.

Ophthalmic Imaging

ARVO launched three sessions this year as part of a program for ARVO members whose scientific interests span several discipline. Among these “cross-sectional groups” was the Ophthalmic Imaging Group chaired by Dr. Wolfgang Drexler of the School of Optometry and Vision Sciences at Cardiff University in Wales. His group is developing 3-dimensional subcellular, molecular, and functional imaging for biomedical applications. Among the speakers in the special session was Dr. Austin Roorda of the University of California, Berkeley, demonstrating how adaptive optics provides microscopic access to the living eye and can be used for studying cells of the retina and retinal pigment epithelium. The technology presents new options for observing pathology of the eye and the impact of various treatments.