22 November, Online Conference

Macula Today 2021

WATCH OUT FOR THE MICROCHIP: A DREAM COME TRUE

Conference Macula Today 2021

Watch out for the microchip: a dream come true

Macula Today is the yearly Conference organized by the Macula & Genoma Foundation Onlus, a no profit organization that promotes research in the framework of the genomics of eye diseases and is actively supporting the fight against blindness.

The Macula & Genoma Foundation Onlus has for its aim the promotion of a social solidarity culture through the dissemination and application of the latest scientific discoveries, without profit and without geographic, social and economic barriers.

The purpose of Macula Today

The Conference hosts every year eminent experts on the field of ophthalmology in order to present the data of their research, which is amongst the most innovative at worldwide level, not only to ophthalmologists but in particular to patients and other laypersons, enabling everybody, through the use of a rigorous but simple and clear language, to come into direct contact with the world of the most advanced research and to be informed about new therapies and already available therapeutic achievements or which could become available in the near future.


The Speakers of this edition

“Macula Today” has the privilege to host today seven scientists coming from eminent Italian, US, Chinese and Dutch universities and research institutes:

Prof. Emiliano Giardina Tor Vergata University and Santa Lucia Foundation, Rome

Prof. Benedetto Falsini Università Cattolica Sacro Cuore and Fondazione Policlinico Universitario A. Gemelli, Rome.

Prof. Kevin Gillmann Moorfields Eye Hospital, London, United-Kingdoms & Swiss Glaucoma Research Foundation, Lausanne, Switzerland

Prof. Andrea Cusumano Tor Vergata University, Rome, Rheinische Friedrich-Wilhelm Universität, Bonn, Weill Cornell Medical College, New York


To whom the Conference is addressed

Macula Today is a precious scientific opportunity of exchange among members of excellence of the international ophthalmologic community engaged in the fight against blindness and presents the uniqueness of sharing the baggage of knowledge and innovations with those directly concerned.

The Conference is not only addressing the “peers” but also patients and their families, ophthalmologists, basic researchers, scientific journalists and the most discerning representatives of national and international institutions.

Free participation and for the first time online.

All those interested will have the opportunity to follow the live broadcast directly on our website or the youtube channel of the Italian Union of the Blind and Visually Impaired UICI Lazio.

Conference Schedule

Prof. Emiliano Giardina
Prof. Emiliano Giardina

Tor Vergata University in Rome, Chief of the Medical Genetics Lab (UILDM) Santa Lucia Foundation, Rome

Clinical pathways in precision medicine for patients with retinal dystrophies

Precision medicine is a concept that has nowadays fully entered into daily clinical practice as its goal is to provide each individual patient with a suitable clinical pathway. To apply a precision pathway means to accompany each single individual not only towards a complete understanding of her / his status, but also toward a careful choice of treatment. In this regard, a cooperation among the various biomedical disciplines and the establishment of the most suitable pathway are fundamental. Ophthalmology and in particular the study of retinal pathologies represents an excellent example of how such strategies can be applied and how to monitor each single individual from a clinical, instrumental and genomic point of view. Indeed, recent acquisitions in the field of genomic resulted in comprehensive diagnostic tools for the total benefit of the patients. Thanks to a constant collaboration with Prof. Cusumano, our group has developed analytical systems aimed at identifying genomic variants that can help clarify the numerous clinical pictures that are found daily. Moreover, thanks to a stable collaboration with the Ministry of Health, it was possible to create a medical system for the definition and management of the risk of developing diseases such as age-related macular degeneration. To date, we are able to propose and implement integrated diagnostic pathways that allow to modify and / or improve the clinical framework and management of our patients.
Prof. Andrea Cusumano
Prof. Andrea Cusumano

Researcher Tor Vergata University in Rome, APL Professor Bonn University, Adjunct Associate Professor Weill Cornell Medical College, New York

Bionic vision, from theory to clinical practice: the experimentation of a project that has become reality. Patient recruitment for the PRIMAvera retinal microchip

PRIMA is a sub-retinal implant designed for patients with late-stage atrophic age-related macular degeneration (AMD), known as geographic atrophy. The implant consists in a 2 mm x 2 mm, 30 µm thick, wireless photovoltaic microchip able to restore the ability of the retina to generate electrical stimuli in response to light, ability lost consequently to the loss of photoreceptors caused by the pathological pathway of AMD. The PRIMA System involves the use of a pair of glasses with an integrated camera that captures images in front of the user, and a pocket computer that transforms captured images into a source of near infra-red light pattern that is sent to the retina via a mirror projector mounted on the glasses. The light pattern hits the microchip placed under the retina, and this generates electrical stimuli that reflect the original light pattern. The microchip is implanted under the fovea through a minimally invasive surgical procedure executable under local anaesthesia. Feasibility studies for PRIMA are being carried out since 2018 in EU (France) and USA (California) in patients suffering from geographic atrophy. After implantation, the patients have been subjected to visual training and follow-up visits. Results at 36 months have confirmed safety and achievement of the functional primary end point (visual light perception in the former scotoma) already shown by the preliminary results obtained at 6 and 12 months after implantation. PRIMA elicited visual perception in the degenerated central retina, with most subjects being able to read single letters and short words and, in some cases, also short sentences in different light conditions, outdoors and ambient light. Residual natural peripheral visual acuity was preserved, with integration of natural and artificial vision. The implants were well tolerated and no implant-related serious adverse events occurred during the 36-month follow-up period. The PRIMA system has provided the best prosthetic visual acuity to date, but it is still an investigational device, hence the next important step is the achievement of the CE mark. For this pourpose, the PRIMAvera study was planned: a multicenter, open label, non-randomized, EU/UK pivotal study that aims at restoring central vision via implantation of PRIMA in a larger number of patients with late-stage atrophic AMD. The study will be carried out in EU and UK in 38 patients and will have a duration of 36 months. Efficacy endpoints will be based on visual acuity (ETDRS), quality of life (IVI) and central visual perception. Recruiting has started in the first half of 2020 and the first implantations have been performed. The study is expected to end in the first half of 2023, with submission for the CE mark at the end of 2022 and achievement of the CE mark in 2023, which will make PRIMA available in the clinical practice for a large community of patients.
Dr. Kevin Gillmann
Dr. Kevin Gillmann

Moorfields Eye Hospital, London, United-Kingdoms & Swiss Glaucoma Research Foundation, Lausanne, Switzerland

Contact Lens with Sensor: Eye pressure telemetry to prevent blindness in glaucoma patients

Although glaucoma is the leading cause of irreversible blindness worldwide, the exact pathophysiology and biological mechanisms underlying the disease are still poorly understood. It has been clearly documented that intraocular pressure (IOP) plays a critical role in the disease process and that elevated IOP is one of the main risk factors for glaucoma progression. IOP control has thus naturally become a cornerstone of glaucoma management. Yet, is it right for clinical decisions to only rely on a vague estimation of IOP values measured over a few seconds, out of the 31,536,000 seconds a year counts? In recent years, the advent of continuous IOP telemetry has led to an increased awareness of the importance of IOP fluctuations, and theories have emerged that IOP variations could play as much a role in glaucoma progression as the mean level of IOP. Besides, a number of physiological variations, lifestyle choices and daily activities were shown to have a direct effect on IOP. Namely, circadian rhythms, seasons, temperature, body position, resistance training, alcohol consumption, sexual activity, psychological stress and meditation were all shown to affect IOP, and while there is no consensus yet, research suggests that 24-hour real-life IOP monitoring may have a key role in the management of glaucoma. This presentation will address the effect of external factors on IOP and available methods to assess continuous IOP fluctuations.
Prof. Falsini Benedetto
Prof. Falsini Benedetto

Università Cattolica Sacro Cuore and Fondazione Policlinico Universitario A. Gemelli, Rome

Structure-Function Correlations in Hereditary Retinal Dystrophies

Autors: Falsini B, Placidi G, De Siena E

Aim: To evaluate the correlations between retinal morphology and the corresponding function in patients with inherited retinal dystrophies (IRDs).

Methods: A cohort (n = 60) of patients with juvenile / adult onset IRDs, with dominant / recessive autosomal and X-linked genetic inheritance, or with syndromic forms (Usher syndrome), was evaluated. Retinal morphology was examined with current imaging techniques (optical coherence tomography), measuring the extension of the "ellipsoid zone (EZ)" and the thickness of the outer nuclear layer (ONL) in the 9 degrees of the central retina. Retinal function was measured by focal electroretinography (focal ERG, central stimulus of 9 degrees). Data were compared with those obtained from a control group of similar age. Results: In patients with IRDs, both morphometric parameters were positively correlated (r = 0.50, p <0.01) with the amplitude of the focal ERG. However, compared to the control values, decreases in amplitude of the focal ERG were more pronounced than the corresponding reductions of the ONL thickness, especially when these were mild or moderate (initial stages). This correlation between structure and function was typically observed in patients with dominant autosomal IRDs, or in Usher syndrome type 2. Conclusions: The results support the hypothesis that the initial forms of IRDs present a more pronounced functional than anatomical involvement, indicating that at these stages retinal dysfunction is potentially reversible with new therapeutic approaches based on gene therapy or other pharmacological treatments aimed at correcting the molecular defect.  

Speakers

coming from eminent universities and research institutes

  • Cascella

    Raffaella

    Cascella

    Genomic Medicine Laboratory UILDM, IRCCS Santa Lucia Foundation, 00179 Rome

  • Cusumano

    Andrea

    Cusumano

    President of the Macula & Genoma Foundation Onlus, Researcher of Tor Vergata University in Rome, APL Professor Rheinische Friedrich-Wilhelms Universität Bonn, Adjunct Associate Professor Weill Cornell Medical College New York

  • Falsini

    Benedetto

    Falsini

    Associate Professor, Ophtalmology Institute, Università Cattolica S. Cuore, Rome - Fondazione Policlinico Universitario A. Gemelli, Rome

  • Gillmann

    Kevin

    Gillmann

    Moorfields Eye Hospital, London, United-Kingdoms & Swiss Glaucoma Research Foundation, Lausanne, Switzerland

Impressioni dal Macula Today

  • My elder sister found out two years ago that she was suffering from a disease of the retina of genetic origin and since the day of this discovery our family lost its peace. Unfortunately there are not many centers that are able to solve this problem but even to simply explain what is the situation and what are the possible treatments. Our participation in Macula Today 2018 was clarifying since it caused us to understand in what consists my sister's disease, which one of us could be struck by it, what could be the benefit deriving from being submitted to a genetic test and which are or could be the therapeutic horizons to be faced. Today we live this situation with greater awareness and, therefore, with tranquility.

    Francesco Macaluso

    Francesco Macaluso

  • My father has been blind for several years now, however, the hope to be able to see again never abandoned him. Today we know that some methods exist for returning the sight, even if it is just light and darkness, shadows and silhouettes and the possibility to read some large characters. We know that this microchips technology is taking giant steps and could soon be at everybody's reach. This hope and expectation to get out of the full darkness changed my father's attitude, who is now coping with his not easy life with greater positivity and courage. Macula Today has become for us an unmissable event, an injection of energy and courage, in which we see on the front line the scientists who are working for offering the patients real prospects for solving their problems; it is really an excellent initiative.

    Michela Mazzucco

    Michela Mazzucco

  • I participated in the last three editions of Macula Today. The first time I was a little hesitant since I was afraid that I would not be able to follow the presentations in English, but fortunately there are simultaneous translators and, therefore, with a headphone one is able to easily follow everything. Being able to sit in front of great scientists and listen to what exceptional things it is possible to realize or it is believed that it is possible to realize in the short term was a new exciting experience. I participated in order to understand at what point the gene therapy for inherited retina diseases is and I was right because I understood the many things that nobody had explained to me, I know what can be realistically expected in the future and what I can tell my ten-year old son, who is suffering from retinoschisis linked to the X. A true breath of optimism and future.

    Alessandra De Falco

    Alessandra De Falco

  • Macula Today has become an anticipated event because of all the novelties that it leads us to learn about and, for me it is more important than anything else, it is the possibility to talk directly with the world players of research in the field of ophthalmology. It is possible to ask questions and obtain answers and clarifications that are seldom given to common people. It is incredible, but the entire organizational effort is made for us, the patients. My wife, who has been suffering for several years now from maculopathy, and I have already booked the train for the Macula Today Conference of this year. Thank you again!

    Michela Quattrocchi

    Michela Quattrocchi

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