Connected to a smartphone, Eyer handheld fundus camera offers high quality images at an affordable cost

Connected to a smartphone, Eyer handheld fundus camera offers high quality images at an affordable cost

Have you ever thought that having an eyer handheld fundus camera in your clinic can be a real advantage?

After all, having quicker access to your patients’ fundus images can assist in early diagnosis, treatment initiation and monitoring various diseases: glaucoma, diabetic retinopathy and age-related macular degeneration (AMD).

However, the equipment is expensive. There are models up to BRL 100,000 on the market. In addition to the other devices your business needs, the investment can burden your budget. Even more for professionals beginning their careers. Given that scenario, a new alternative is available: Eyer handheld fundus camera. Connected to a smartphone, the technology captures high-quality images of the fundus and sends them to an online platform. It allows reporting the exam and filing the patients’ history, among other features.

Another advantage is the price: the equipment is up to 4 times cheaper than the conventional handheld fundus camera.

The technology is national and developed by the startup Phelcom Technologies headquartered in the countryside of Sao Paulo.

Next, learn more about Phelcom Eyer handheld fundus camera, its advantages, how the Eyer Cloud platform works and how the device has been used in research projects and social actions.

Phelcom Eyer handheld fundus camera

 

retinografia para neurologistas

Released in 2019, Phelcom Eyer is a handheld fundus camera that works coupled to a smartphone with a high-resolution camera. The device captures high-quality images of the fundus, in a few minutes and without the need for pupil dilation. After that, the data is automatically sent to the Eyer Cloud online platform. It allows reporting the exam and storing patients’ history with total data security.

Check out all the features of the Eyer:

High quality

 

Phelcom’s patented technology allows high quality exams to be performed on a portable device integrated with the smartphone.

Telemedicine

 

Carried out exams are automatically synchronized with the internet and made available in the cloud, enabling remote diagnosis.

Embedded artificial intelligence

 

Eyer has intelligent functions to assist medical diagnosis and capture retinal exams.

Connectivity

 

The device is naturally connected because it is integrated with the smartphone. It eases sharing and accessing exam data in the cloud through the Eyer Cloud system.

Non-mydriatic

 

Eyers carries out retinal examinations at any location without the need to use eye drops for pupil dilation. It is more comfortable to the patient and provides a faster exam.

Autofocus 

 

With the Autofocus function it is possible to compensate refractive errors in the range of -20D to + 20D. This allows retinal examinations with a high level of details.

Accessible

 

Eyer allows the democratization of access to retinal examination technology through innovative and more accessible business models.

Easy operation

 

Any minimally trained healthcare professional can use the equipment to perform high-quality retinal exams in less than 1 minute. It guarantees faster and more accurate diagnoses.

Panoramic

 

The Eyer generates panoramic exams with a more than 100 degree visual field. The device has internal fixation points that assist capturing and generating panoramics.

Portability

 

The portable device allows performing exams anywhere with remotely-issued diagnosis. This feature helps in the democratization of health, since 85% of Brazilian cities do not have access to specialists and devices that diagnose eye diseases.

Low cost

 

Portability and small size allow Eyer to have a much lower cost compared to traditional fundus cameras. Even with cutting-edge technologies applied to the device production.

 

Recently Phelcom also released a slit lamp holder to allow Eyer attachment to a tabletop. This way, it provides the experience of a tabletop retinograph by easing image capture without movement.

In addition, it helps to maintain social distance in care, since the professional does not need to touch the patient’s forehead as occurs in the traditional exam.


Eyer handheld fundus camera – advantages

Eyer offers state-of-the-art technology which makes the device one of the most modern portable fundus cameras for the prevention and diagnosis of vision-related diseases.

Learn about the advantages of the equipment below:

  • High-quality eye exam through a smartphone;
  • Accurate and quick diagnosis;
  • Lower cost compared to traditional retinographs;
  • Exams are possible in several locations due to portability;
  • Democratization of retinal exams, especially in places with low infrastructure of quality services in the area, such as doctors, health professionals, equipment, medicines etc;
  • Faster service through computerized systems integrated to an online platform with access via computers, smartphones and tablets;
  • Tests are easy to carry out in clinics and health centers;
  • Diagnosis made by specialists and reference professionals located anywhere in the world;
  • Reduction of attendance time and operational costs;
  • Decrease in the displacement of patients to hospitals and large urban centers;
  • Improvement in the quality of the reports issued;
  • Increase in prevention and early diagnosis of diseases such as diabetic retinopathy, glaucoma, cataract, macular degeneration, retinoblastoma, retinal detachment, premature retinopathy and blindness, inter alia.

Eyer handheld fundus camera – Eyer Cloud

Eyer Cloud  is an online platform integrated with the Phelcom Eyer handheld fundus camera that allows you to store and manage patient exams. All data captured by the equipment is automatically synchronized with the system, allowing them to upload to the cloud with complete security.

Any health professional – without necessarily being a specialist – can carry out the exam in the field after a brief training. With the information available on the web, a doctor from anywhere in the world can diagnose.

In addition to ensuring data backup on a secure server, the user has all data organized in a friendly, functional and intuitive interface. Moreover, the platform can be accessed on the device itself or in a smartphone, tablet and computer.

If there is no internet access at the time of the exam the images are saved on the device and are sent to the cloud as soon as a connection is available.

Eyer handheld fundus camera – social actions

Currently there are several social actions that use the device to bring more health to the whole country.

This is the case of the project “Unidos pelo Diabetes em Ação”, in Itabuna (BA)  . The event gave rise to the collective task force “Unidos pelo Diabetes”  that needed to be cancelled due to the pandemic. On the whole, 400 patients participated in the first phase. 100 of these had more severe diabetic retinopathy or macular edema.

mutirão de Itabuna

 

The project used advanced technologies to ensure screening without agglomerations. Eyer was the main screening tool. “Phelcom was fundamental to the success of the project as it made the devices available, provided prior training, helped in the strategy of assembling reports using its Eyer Cloud program and made its team of engineers available for support during the action”, says Andrade. “In addition, in an innovative way in Brazil, it created an artificial intelligence algorithm to help sorting patients who would probably be serious and those without changes, easing the logistics through distance-reporting”, adds Andrade.

Expeditions

 

The expedition carried out by Barco Hospital São Francisco, in the region of the municipality of Terra Branca (PA),at the end of last year, also featured the Eyer. Ophthalmologist Mariana Lafetá, one of the volunteers on this trip, says that the equipment helped in the diagnosis of diseases such as cataracts, glaucoma and diabetic retinopathy, inter alia.

 

 

“It is easy to carry out the exams, take the photos, find them in the files and store them later. We can also send or print the images, which I think is very interesting, in addition to the easy access from anywhere with the internet connection ”, she analyzes. Ophthalmologist Fernando Korn Malerbi also used the Eyer on an expedition to three indigenous communities in the state of Mato Grosso earlier this year. The doctor evaluated 193 Indians. Diabetic retinopathy and cataracts figure among the main diseases found.

“The experience with the equipment was very good, mainly due to portability and ease of use”, he evaluates. He recalls that he has been involved in other projects with the Eyer handheld fundus camera for the diagnosis of diabetic retinopathy. “I believe that the Eyer is very relevant for this type of action, representing an important alternative for tracking populations that live in remote areas”, he concludes.

Do you want to know more about how technology helps with eye exams? Follow the Phelcom’s blog.

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Study uses gene therapy to regenerate damaged optic nerve

Study uses gene therapy to regenerate damaged optic nerve

Can you imagine regenerating the damaged optic nerve with gene therapy and being able to recover patients with glaucoma?

A research from the University of Cambridge (United Kingdom) has achieved promising results in this regard. Through gene therapy, scientists have rehabilitated damaged eye nerve fibers. The study was published recently in  Nature Communications Journal.

Learn about details on the research: methodology, results and how important it may be, in the future, to treat glaucoma.

However, results are still initial and require further tests to determine an effective therapy for humans.

 

Research

 

Researchers from the University of Cambridge (UK) used a gene therapy technique to stimulate, in vitro, the increase and activity of the protruding protein in the eye and optic nerve.

First, the scientists cultivated the cells in laboratory. Then, laser-injured the nerve cells (axons). Finally, they introduced the gene and followed the changes with a microscope.

The study was carried out in mice.

 

Results

 

The scientists noticed that the more the protruding protein in these cells increased in number, the greater was the retinal neuron regeneration. More than improving the protein growth, it decreased the chance of nerve cell death.

The investigation showed an almost complete “protection” of the nerve cells growing in a cell culture of one of the guinea pigs.

This protein can help healing or, at least, reducing optic nerve damage. Thus, it may assist protection against glaucoma in the future.

It is worth mentioning that further tests are needed to determine an effective treatment for humans.

 

Conclusion

 

In fact, the gene therapy study results are promising. Especially because it seemed impossible to find a way to regenerate injured optic nerve in the past.

This research gives hope, however it still requires many tests on mice, primates and humans. Only then will an effective treatment be defined to reach the population within a few years. Nevertheless, the study is still a major breakthrough against glaucoma and other diseases that affect neurons such as Alzheimer.

Stay in the main news about eye care. Follow Phelcom’s blog.

 

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Artificial intelligence in the diagnostic medicine

Artificial intelligence in the diagnostic medicine

In fact, artificial intelligence in the diagnostic medicine has been showing positive and promising results. More than that, the development of more and more innovative software has been revolutionizing the sector by delivering more speed, precision, quality, accessibility and cost reduction to patients, professionals and institutions involved.

For example, Google carried out a research that showed the use of AI can improve the diagnostic accuracy of ophthalmologists . Another study by the company also proved that ophthalmologists and algorithms are more effective when working together .

Undoubtedly, the use of computerized systems and computational symbols in the prediction and imitation of human behavior directly impacts the patient health and the cost reduction in treatments, among other numerous benefits.

Learn about 4 technologies that apply artificial intelligence in the diagnostic medicine: Eyer handheld fundus camera, remote reporting software, breast cancer genetic test and mammography software.

1.   Eyer handheld fundus camera

 

mutirão de Itabuna

The Eyer handheld fundus camera was one of the main equipments used in the project “Unidos pelo Diabetes em Ação, in Itabuna (BA), Brazil.

 

Connected to a smartphone, Eyer handheld fundus camera carries out high-quality retinal exams, in only a few minutes, with no need to dilate the pupil. Integrated with an online platform, the data is automatically sent and can be analyzed by a specialist anywhere in the world. That is, it allows remote diagnosis.

Learn about the equipment functionalities:

  • High-quality retinal exams by smartphone;
  • Accurate and fast diagnostics;
  • Lower cost compared to traditional fundus cameras;
  • Portability, which allows exams in several locations;
  • Democratization of Retina exams, mainly in places with low infrastructure of quality services in the area, such as doctors, health professionals, equipment, medicines, etc;
  • Faster service through computerized systems integrated to an online platform accessible through computers, smartphones and tablets;
  • Exams are easier to carry out in clinics and health centers;
  • Diagnosis made by specialists and leading professionals from anywhere in the world;
  • Reduction of service time and operational costs;
  • Decrease in the displacement of patients to hospitals and large urban centers;
  • Improvement in the quality of the issued reports;
  • No use of eye drops for pupil dilation;
  • Increased prevention and early diagnosis of diseases such as diabetic retinopathy, glaucoma, cataract, macular degeneration, retinoblastoma, retinal detachment, retinopathy of prematurity and blindness, inter alia.

In Brazil, the startup Phelcom Technologies offers the Phelcom Eyer handheld fundus camera . In addition, it also offers the online platform Eyer Cloud , which allows storing and managing patient exams. It ensures data backup on a secure server and the physician has all data organized in a friendly, functional and intuitive interface.

Remote reporting software

Some remote reporting software enable remote diagnosis and work with machine learning, an AI application. In Portuguese, the term means “machine learning”.

How does it work? Basically, it collects data, learns from it and improves automatically – without necessarily being programmed.

In the diagnostic medicine, the tool evaluates an extensive database of patients’ symptoms to find patterns for each illness. The software can check which disease the individual has, according to the evidence it presents.

There are some systems available in Brazil. Portal Telemedicina, for example, analytically compares face-to-face exams to similar cases in a database with 30 million images and exams.

The platform develops medical recommendations with reliable and accurate criteria when using Deep Learning. This method is based on complex algorithms that copies our brain neural net, giving the system an ability to detect medical findings at the superhuman level.

If the medical exam and the algorithm recommendation do not match, it sends the exam to three other specialists for a more detailed evaluation. The program even incorporates learning into each report issued, accumulating clinical repertoire in its database.

Another innovative aspect is its capacity to perform automatic exam screening allowing emergency cases to take priority in the doctor’s queue.

 

consultório médico

 

Software for mammography reports

Imagine accurately identifying the location of the breast with a suspicious change and, on top of that, easing the biopsy. Some artificial intelligence software are able to detect breast cancer more accurately.

One of them can predict unusual patterns of the mammography image and point out the region that demands further inquiry. American startup Dasa, in partnership with CureMetrix, created the algorithm.

Another software developed by Google may be the “second medical opinion” on the mammography. This is because the algorithm showed 11.5% more hits in relation to human analysis.

However, when evaluated by two doctors, humans show the same result as the machine. And, as it is common for two experts to analyze the image, Google tool can be the “second expert”.

Genetic testing – EndoPredict

 

Artificial intelligence in diagnostic medicine is also managing to predict the development of breast cancer and possible metastasis for the years to come.

The  EndoPredict genetic test, for example, evaluates 12 tumor tissue genes related to the probability of recurrence. The result is a score that indicates whether the chance of the cancer to spread elsewhere in the body is high or low over the next ten years. Thus, it avoided chemotherapy in 70% of patients with negative nodules in clinical studies.

However, the test is indicated only for recent diagnoses of the disease and at an early stage. Moreover, positive for estrogen receptors and negative for HER2/neu protein.

The test is offered exclusively by GeneOne, Dasa genomics laboratory.

Machine learning

 

The Massachusetts General Hospital (MGH) and MIT’s Computer Science and Artificial Intelligence Laboratory (CSAIL) , in the United States created a new model of machine learning. It allows predicting, from a mammography, if a patient will develop breast cancer within five years.

With more than 90,000 exam evaluations in the database, the AI has learned the subtle patterns in the breast tissue that are malignant tumor precursors.

The team model was significantly better at predicting risk than existing approaches. It accurately positioned 31% of all cancer patients in its highest risk category, compared to only 18% of traditional models.

Conclusion

 

Artificial intelligence in diagnostic medicine will surely revolutionize the area and help doctors and health services to increase productivity and attend more people.

Undoubtedly, it is also essential to democratize access to healthcare. Mainly in places with low infrastructure of quality services in the area, such as doctors, health professionals, equipment, medicines etc;

In fact, intelligent algorithms will not replace doctors who specialize in this type of diagnosis. However, it can serve as support, offering safer and more accurate reports.
Is artificial intelligence in diagnostic medicine a subject that interests you? Follow Phelcom’s blog.

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5 best practices in medical clinic management

5 best practices in medical clinic management

Indeed, managing medical clinics can be a challenge for doctors.  Office management involves various simultaneous responsibilities, such as organizing data, financial control, personnel administration, marketing and patient experience, inter alia. 

As many specialists do not have technical knowledge in business administration, they may face difficulties in the area. 

Therefore, it is critical to develop strategies that assure daily practicality and productivity in the already busy routine of those healthcare professionals.  More than that, tools which help increase services and improve results.

Read below about the five best practices in administration of medical clinics.

 

Medical softwares for data organization and quick access

 

Nowadays, medical softwares help automating all the office internal processes. Storage of electronic records and data from doctors, as well as financial and administrative staff, are among their main functionalities.

This way, managing medical clinics becomes faster and more efficient. Thereafter, it also relieves professionals who work in various duties and office, besides studying.

For example, some programs even send reminders and ask to confirm the patient appointment. Undoubtedly, it is a great benefit, for it is frequent for the patient to miss an appointment.

Nowadays, with the broadening of telemedicine in Brazil, there are also systems that offer teleconsultations, telediagnostics, as well as digital prescriptions and certificates. All this assuring patient data security and cloud storage.

 

Service focused on patient’s experience

 

gestão de clínicas médicas

 

Progresses on technology have changed service relations. Presently, the customer is a protagonist: he/she has more decision power in hands and demands optimal experience during the whole service process. Moreover, they influence consumption choices of friends, relatives and followers on the internet.

The patient also fits into this scenario.  He/she goes through a journey before arriving at your office.  There are, basically, five steps: symptoms identification, decision for setting an appointment, search for the best physician, healthcare service and its further evaluation.

It is, therefore, fundamental to understand and map the patient’s journey, in order to improve in-clinic experience. Consequently, it increases chances of acquiring more patients and building their loyalty.

In fact, they report easy-to-solve issues. Check out some actions that increase user satisfaction:

  • Possibility of setting appointments online;
  • Comfortable office;
  • Avoiding delays;
  • Setting a quality standard for services;
  • Reducing time of waiting between the patient’s journey steps;
  • Humanized service;
  • Investment in technologies for a more agile service and more assertive diagnostics.

 

Sound financial management

Undoubtedly, good financial management is one of the main requisites to avoid losses and decrease clinic costs. For that, it is necessary to develop an assertive planning of expenses and investments.

In this sense, it is important to recognize and measure resources involved in all areas of the clinic. Therefore, you will have available values at hand to decide what direction to take and how to apply each one of them efficiently.

Some tips to help you on this goal follow below:

  • Have a proper control of your cash flow;
  • Do not mix up personal and clinic accounts;
  • Automate internal processes;
  • Have a sound financial planning;
  • Follow expenses and incomes;
  • Use a good medical clinic management system.

 

People management

gestão de clínicas médicas

 

Recruiting and retaining talents is also a great challenge in medical clinic management. This area also needs close attention, since it is directly linked to the user experience, for example.

Therefore, some actions may help improving the staff work.  Check them out:

 

Encourage participation in strategic matters

Give voice to employees. Create an environment where he/she not only feels safe to opine, but also motivated to debate key subjects.

 

Offer incentive programs

This, in fact, is one of the measures that help engagement and recruitment of good professionals. It may consist in money rewards or life experiences, as trips, for example, according to employee performance and results delivered.

 

Define a career plan

Career stagnation is one of the main de-motivations among professionals. Therefore, offer a clear and attractive career plan so that your staff knows about their chances of development. 

 

Invest in training

Since the healthcare sector constantly evolves, it is essential that your employees receive training from your office.  In addition, that tool improves motivation and service quality, once more with positive effects on patient experience.

 

Digital presence

 

The ascension of internet and social media makes it essential for trademarks and companies to be present and accessible for customers. That includes your office. 

Most of the patients search the internet for information about services. Therefore, it is worth betting on a website for your clinic, as well as profiles in social media as Facebook and Instagram. After all, nowadays these are important communication tools to build user loyalty.

Undoubtedly, advertisement can be a powerful ally to increase your clinic visibility and create a confidence link with your patient. 

However, there are rigid rules to follow to the letter at the time of releasing information and services in this sector. Be attentive

 

Would you like to know more about medical administration?  Follow Phelcom blog. 

 

Medical Marketing: what is it and what are the rules?

Medical Marketing: what is it and what are the rules?

Have you ever heard of medical marketing? Ascension of social media has made it essential for trademarks and companies to be present and accessible for their customers. That includes your office. 

Undoubtedly, advertisement can be a powerful ally to increase your clinic visibility and create a confidence link with your patient. 

However, there are strict rules to follow to the letter when publishing information and services in this sector.

We prepared this article for your better understanding of what medical marketing is. Therefore, get to know the directives of Brazilian Code of Medical Ethics on the subject, and the Resolution CFM No. 1974/11, which regulates the activity. Also, read about what is allowed or not for promoting your work.

 

What is medical marketing?

 

Let us understand what marketing is, first place.

Marketing is, basically, “the art of exploring, creating and delivering value to satisfy market needs through products or services that may interest consumers. The purpose of marketing is to create value and call the customer’s attention, generating profitable relations for both parts“.

Moreover, if you are interested in getting to know more about this tool, see this special issue from the company Resultados Digitais.

 

marketing médico

 

 

Medical market, in its turn, is personalized for the communication needs within the healthcare sector, involving doctors, offices, clinics and other professionals and institutions of the area. For example, your target audience are patients instead of clients, as in traditional marketing.

Another premise is that advertising must obey exclusive ethical principles of educational guidance.

How to start working with medical marketing? First, it is fundamental to know the regulations of Brazilian Code of Medical Ethics and the Resolution CFM No. 1974/11, established by the Federal Council of Medicine (CFM) and the Committee for Disclosure of Medical Information (Codame).

 

Code of Medical Ethics

 

The Code of Medical Ethics determines some of the restrictions on the advertisement of medical information by professionals. The main ones follow below:

 

  • Take part in the promotion of medical information, in any means of mass communication, without the exclusive character of social elucidation and education;
  • Publish information on medical matters in a sensationalist, promotional way or with untrue content. 
  • Publish, outside the scientific community, any treatment or discovery whose value is still not expressly and scientifically recognized by a competent body;
  • Announce scientific titles you cannot prove and specialty or field of action for which you are not eligible and registered with the Regional Council of Medicine;
  • Take part in ads of commercial companies of any nature, making use of your profession;
  • Keep from including, in professional ads of any kind, your name, registration number with the Regional Council of Medicine, with the Federation State where it is registered, as well as the Specialist Qualification Registration (RQE), whenever announcing your specialty.

 

Warning: the ads of healthcare facilities must contain their technical director’s name, as well as registration number with the Regional Council of Medicine.

 

Resolution CFM No. 1974/2011

 

marketing médico

 

Resolution CFM No. 1.974/2011 aims to regulate all announcements and promotional pieces with information referring to doctors and clinics in any means of communication.

Therefore, it imposes some mandatory rules for advertisements in the healthcare area.

Understand the main mandatory requirements, what is and what is not allowed in medical marketing, according to that resolution:

 

What is mandatory

 

Mandatory information in medical ads:

  1. a) Name of professional;
  2. b) Specialty and/or area of practice, when registered with the Regional Council of Medicine;
  3. c) Registration number with the Regional Council of Medicine;
  4. d) Specialist Qualification Number (RQE), in case you are a specialist.

On the other hand, ads of clinics, hospitals, health houses, healthcare providers and other health institutions, must contain the name of the medical technical director and his corresponding registration with the Regional Council, in whose jurisdiction the health establishment is located.

 

What is not allowed

 

  • Promote a device claiming it to be of exclusive use;
  • Take part in advertisements of commercial companies or their products, as well as of medical trade union entities or associations;
  • Allow your name to be included in misleading advertisement;
  • Allow your name to circulate in subjects without scientific rigor in any media;
  • Advertise any method or technique not recognized by the Federal Council of Medicine as valid for medical practice;
  • Expose a patient as a way to promote technique, method or treatment result, even with his/her consent;
  • Advertise the use of exclusive treatment techniques;
  • Assure, promote or insinuate food treatment results. As, for example, using sensationalist statements as “the best”, “the only one” or “guaranteed result”;
  • Social media posting of selfie, images and/or audios featuring sensationalism, self-promotion or unfair competition;
  • Publication of “before and after” images of procedures;
  • Promote address and telephone number of office, clinic or service;
  • Exaggerated advertising pieces, even of established procedures, that avoid technical concepts and prioritize personal performance where you work or have personal interest;
  • Publicly convey information that causes concern to society, even if scientifically proven;
  • Publish, outside the scientific community, any treatment or discovery whose value is still not expressly and scientifically recognized by a competent body;
  • Assure, promise or insinuate good treatment results without scientific proof;
  • Consult, diagnose or prescribe by any means of mass communication or remotely;
  • Present, in an abusive, misleading or frightening way, visual representations of changes in the human body caused by diseases or injuries;
  • Publish prices for procedures, accepted payment/installment modalities or possible discounts as a way to make a difference in service quality.

 

What is allowed

 

  • Promote courses and updates related to your specialty or practice area, properly registered with the Regional Council of Medicine;
  • Provide information, give interviews and publish strictly educational articles.

 

Conclusion

 

Codame (Brazilian Portuguese for Committee for Disclosure of Medical Information) Manual, attached to the resolution, contains all the specific rules for disclosure in graphic materials, radios, television, internet and interviews to the media.

Consult the Committee in any of the Regional Councils of Medicine whenever there are doubts, in order to adequate the advertisement to legal an ethical regulations.

 

Would you like to know more about medical administration?  Follow Phelcom blog. 

 

Gene therapy for retinal dystrophy has first drug approved

Gene therapy for retinal dystrophy has first drug approved

04Anvisa has approved the first product of gene therapy in Brazil, for treating Hereditary Retinal Dystrophy (HRD), as Leber congenital amaurosis and retinitis pigmentosa. There was no therapeutic alternative for the problem, so far.

Voretigene neparvopeque (trade name: Luxturna®) is a special kind of advanced therapy medicine. The enzyme it produces improves functioning of retina cells, decreasing the disease progress.

Learn more about this gene therapy, how it acts in the organism and its results to patients.

 

Gene therapy

 

In brief, gene therapy is based on inserting exogenous genetic material in a person’s cells for therapeutic purposes. Therefore, the transference aims to recover the function of a gene, provide a new gene function or intensify the functioning of active genes.

Objectively, gene therapy fixes defective genes by inserting healthy genes in patients with different diseases.

 

Hereditary retinal dystrophy

 

Hereditary Retinal Dystrophy (HRD) is a rare disease provoked by the mutation of human gene RPE65. Leber congenital amaurosis, retinitis pigmentosa, Usher syndrome and Stargardt disease are among the disorders it causes.

This gene mutation provokes gradual rupture of the cells that form the retina, located at the back of the eye. Therefore, it causes gradual loss of vision, culminating in blindness.

It usually occurs in childhood or teenage years. Though rare, it is the second cause of low vision in children up to 15 years old. Moreover, a considerable amount of its carriers evolves to complete blindness up to around 18 years old.

Some of the symptoms are difficulty or lack of adaptation to dark, loss of peripheral vision, abnormal color vision, photophobia and visual acuity loss, evolving to complete blindness.

 

How the medicine works

 

terapia gênica

 

Elaborated through genetic engineering, the product consists of a virus with an inserted copy of the human gene RPE65, responsible for producing an enzyme necessary for the retina proper functioning.

Such enzyme allows a better performance of retina cells, thus decreasing the disease progress. During the study phase, it demonstrated gain of functional vision and autonomy in adults and children.

It is worth mentioning the virus used in manufacturing that medicine does not cause diseases in humans.

It is possible to treat children from 12 months old on and adults with vision loss due to hereditary retinal dystrophy. Novartis Biociências S.A. produces the medicine.

So far, there was no therapeutic alternative for the disturbance.

Another important remark: it is a hospital use product and must be used under expert medical supervision, via sub-retinal injection. 

The physician also must take precautions, such as having the patient undergo mandatory tests able to prove his/her vision loss was due to mutations of RPE65 gene, over which the Luxturna’s active substance works.

Moreover, the doctor must use other lab and clinical evaluation criteria. For example, a certain amount of still functional retina cells is necessary for a successful treatment. If not, results may be low.

 

Conclusion

 

Gene therapy, as a whole, has enormous potential to treat diseases provoked by a single imperfect gene. That happens because, by fixing part of the defective genetic code, it solves or decreases the problem. It thus increases patient’s life quality.

Undoubtedly, this treatment brings up positive expectations towards rare diseases caused by genetic disorders.

 

 Follow the main news on eye health on Phelcom blog.

 

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