La enfermedad de Best es una enfermedad retiniana hereditaria, la cual causa degeneración macular y pérdida de visión central, agudeza visual, y percepción de color.
Sobre la enfermedad
La enfermedad de Best, también conocida como distrofia macular viteliforme, es una enfermedad retiniana hereditaria que causa degeneración macular. La retina es una delgada pieza de tejido que reviste la parte trasera del ojo. Los fotorreceptores de conos y bastones en la retina convierten la luz en señales eléctricas que el cerebro interpreta como visión. La enfermedad de Best afecta a la mácula, la parte central de la retina, y se caracteriza por la pérdida de visión central, así como de la habilidad de apreciar colores y detalles.
Aunque la edad de inicio para aquellos con la enfermedad de Best puede variar, habitualmente se diagnostica durante la niñez o la adolescencia. En las etapas iniciales, se forma un quiste amarillo brillante (saco de fluido) bajo el epitelio pigmentario retiniano (RPE) y por debajo de la mácula. El RPE es una capa de células que provee soporte para los fotorreceptores.
Tras la examinación de un oculista, el quiste se ve como un huevo frito con la yema intacta. A pesar de la presencia del quiste, la agudeza visual podría permanecer normal o cercana a lo normal durante muchos años. La visión periférica (del costado) usualmente no se ve afectada.
En muchos individuos con la enfermedad de Best, el quiste eventualmente se rompe. Los depósitos de fluido amarillo del quiste roto se desparraman a lo largo de la mácula. En este punto, la mácula tiene la apariencia de un huevo revuelto. Una vez que el quiste se rompe, la mácula y el RPE comienzan a atrofiarse (degenerarse), causando mayor pérdida de visión.
Las retinas afectadas por la enfermedad de Best también padecen la acumulación manchitas amarillas llamadas lipofuscina, la cual también puede generar pérdida de visión.
En muchas personas con la enfermedad de Best, la visión central se deteriora a alrededor de un 20/100 en la vida avanzada. Sin embargo, la condición no siempre afecta a ambos ojos de igual manera. Muchos individuos retienen una útil visión central en un ojo con una agudeza visual de alrededor de 20/40 en el ojo menos afectado.
En algunos casos, la enfermedad de Best no progresa lo suficiente como para causar una pérdida significativa de la visión central. Sin embargo, los especialistas en retina aún así pueden detectar la enfermedad usando pruebas de diagnóstico sofisticadas que miden el funcionamiento del RPE y de la retina.
Cómo se hereda la enfermedad
Las mutaciones en el gen BEST1 (VMD2) causan la enfermedad de Best. La condición es pasada genéticamente a través de las familias por el patrón autosomal dominante de herencia. En este patrón de herencia, una persona afectada tiene un gen de enfermedad de Best emparejado con un gen normal. Cuando la persona afectada tiene hijos con una pareja no afectada, hay un 50% de probabilidad de que el padre afectado pase el gen causante de la enfermedad a cada hijo.
La persona no afectada sólo pasará genes normales. Un hijo que no tiene el gen de la enfermedad de Best no tendrá la enfermedad y por lo tanto no puede pasar la enfermedad a sus hijos.
Los asesores genéticos son un excelente recurso para hablar sobre heredabilidad, planificación familiar, pruebas genéticas, y otros tópicos afines.
Viviendo con la enfermedad de Best
Hay muchos servicios y recursos de asistencia y adaptación disponibles para las personas y familias con enfermedad de Best. Visita las páginas Living and Thriving de la Fundación para aprender sobre muchos de estos recursos. Un especialista en visión baja puede ayudar a recomendar los recursos que son adecuados para ti.
Está disponible la Prueba genética para la enfermedad de Best. Ayuda a confirmar el diagnóstico y el riesgo de pasar la condición de un padre a su descendencia. También ayuda a obtener un diagnóstico preciso. Un paciente con un diagnóstico preciso está en mejor posición de entender qué enfoques de tratamiento emergentes y pruebas clínicas son más apropiados para él o ella.
Mar 31, 2020 Foundation News
The Foundation Fighting Blindness is closely monitoring the COVID-19 situation and its impact on the IRD community.
Feb 6, 2020 Foundation News
The Foundation Fighting Blindness is pleased to provide an audio recording and full transcripts of the Insights Forum, our quarterly conference call providing updates to the inherited retinal disease community. The call took place on January 31, 2020.
Feb 6, 2020 Press Releases
ProQR Therapeutics Teams Up with the Foundation Fighting Blindness and Blueprint Genetics to Support the My Retina Tracker® Program for People Living with Inherited Retinal Diseases
My Retina Tracker Program is the highest volume IRD genetic testing program in the U.S.
Oct 2, 2019 Press Releases
Blueprint Genetics, InformedDNA and the Foundation Fighting Blindness launch an open access program for patients with inherited retinal disease in the United States
The program will offer patients with inherited retinal disease no-cost genetic testing and genetic counseling in the United States. Look for updated information on how to participate to be posted in mid-October, with program registration starting shortly thereafter.
May 9, 2019 Press Releases
Bipartisan Bill Will Stimulate Up to $1 Billion in New Funding for Blindness Research
Jul 19, 2018 Press Releases
Bill Introduced in U.S. House Would Speed Up Cures for Blindness
Jun 8, 2018 Press Releases
Foundation Fighting Blindness and CheckedUp® Partner to Educate Retinal-Disease Patients About Research, Resources, and Emerging Therapies During Doctor Visits
The Foundation Fighting Blindness (the Foundation) and CheckedUp have formed a collaborative partnership to deliver patient-friendly diagnostic and disease-management information to people with retinal diseases such as age-related macular degeneration, retinitis pigmentosa, and Stargardt disease during their visits to eye doctors.
Feb 7, 2020 Science Education
The benefits of genetic testing for IRD patients, how to participate in the Foundation’s Open Access program, and what to expect from the genetic testing process.
Jun 17, 2019 Science Education
Retinal research paves the way for new treatments for the entire neurological system.
May 20, 2019 Eye On the Cure Research News
Dr. Zack is a member of the Foundation’s Scientific Advisory Board and chairs its Cellular Molecular Mechanisms of Disease study section.
May 9, 2019 Eye On the Cure Research News
Eye Bonds Re-Introduced to New Congress: Potentially $1 Billion in Government-Backed Funding for Eye Research
Eye Bonds provide the opportunity to advance, and accelerate development for, more promising treatments into and through clinical trials and out to the people who need them.
Jan 29, 2019 Eye On the Cure Research News
Sofia Sees Hope, a nonprofit dedicated to finding treatments and cures for people with Leber congenital amaurosis (LCA) and other inherited retinal diseases (IRDs), has made a $100,000 donation to the Foundation Fighting Blindness to support therapy development and genetic testing.
Jan 17, 2019 Eye On the Cure Research News
The French bioelectronics company Pixium Vision has reported that its PRIMA bionic vision system has restored some central vision in patients with advanced dry age-related macular degeneration (AMD) participating in a clinical feasibility trial.
Nov 9, 2018 Eye On the Cure Research News
Ophthotech Corporation, a biopharmaceutical company focused on the development of therapies for orphan retinal diseases and age-related macular degeneration, has announced an evolving, commercial partnership with the University of Pennsylvania and University of Florida to develop a gene therapy for Best disease caused by BEST1 mutations.
Nov 2, 2018 Eye On the Cure Research News
Since 1989 genetic researchers, many funded by the Foundation, have identified approximately 270 genes linked to IRDs. In most cases, defects in a single gene can cause a retinal disease and vision loss.
Aug 22, 2018 Eye On the Cure Research News
The company is taking on a multi-track strategy that includes retinal gene-therapy development, including delivery of over-sized genes and design of a two-step process of gene knockdown and replacement for autosomal dominant conditions.
Aug 15, 2018 Eye On the Cure Research News
Each recipient will receive a total of $375,000 over five years to help build an independent research program in addition to their clinical practices.
Aug 6, 2018 Eye On the Cure Research News
Seventy scientists submitted requests for funding.
Jul 20, 2018 Eye On the Cure Research News
Call to Action: Ask Congress to Support $1 Billion in Eye Research
Jul 5, 2018 Eye On the Cure Research News
Many research groups from around the world are investigating ways to create new photoreceptors from stem cells for transplantation into the retina for vision restoration.
Jun 22, 2018 Eye On the Cure Research News
Watch recorded sessions from VISIONS2018.
May 3, 2018 Eye On the Cure Research News
ARVO 2018: Dr. Stephen Daiger Reports on the State of Genetic Testing for Inherited Retinal Diseases
ARVO 2018: Dr. Stephen Daiger Reports on the State of Genetic Testing for Inherited Retinal Diseases
May 2, 2018 Eye On the Cure Research News
FFB’s own Dr. Steve Rose, chief scientific officer, reviews our commitment to funding and exploring CRISPR/Cas9 gene editing for inherited retinal disease.
Mar 20, 2018 Eye On the Cure Research News
Using gene therapy, FFB-funded researchers at the University of Pennsylvania School of Veterinary Medicine (Penn Vet) and Perelman School of Medicine have reversed the disease process in a canine model of Best disease, an inherited form of macular degeneration that can lead to severe vision loss in humans
Jan 17, 2018 Eye On the Cure Research News
The French biotech GenSight Biologics has received regulatory authorization in the UK to launch the PIONEER Phase 1 \ 2 clinical trial for its GS030 system — a light-sensing gene therapy (optogenetics) coupled with eyewear, which enhances visual stimulation.
Jan 9, 2018 Eye On the Cure Research News
An exciting year in fighting blindness.
Dec 20, 2017 Eye On the Cure Research News
Known as LUXTURNA™ (voretigene neparvovec), the gene therapy restored vision in a clinical trial for people between the ages of 4 and 44 with Leber congenital amaurosis (LCA) caused by mutations in the gene RPE65.
Nov 21, 2017 Eye On the Cure Research News
If a clinic is charging for a stem-cell treatment or procedure for an IRD, it is probably not legit. The expense to the patient is a major red flag.
Oct 13, 2017 Eye On the Cure Research News
FDA Committee Unanimously Recommends Approval for Spark's RPE65 Gene Therapy - Final Decision Due in January 2018
An advisory committee comprised of FDA-selected experts voted unanimously – 16 to 0 – to recommend approval.
Sep 27, 2017 Eye On the Cure Research News
In addition to funding promising biotech start-ups, the Foundation Fighting Blindness has played a critical role in developing research talent.
Jul 26, 2017 Eye On the Cure Research News
The high-tech, vision-restoring system interfaces with the visual cortex, the back of the brain where visual input is processed to create the images we see.
Jul 25, 2017 Eye On the Cure Research News
Foundation Fighting Blindness and 4D Molecular Therapeutics Partner to Boost Retinal Gene Therapy Development
The partnership will help companies and researchers quickly obtain and implement high-quality vectors for their retinal gene-therapy development efforts.
Jul 24, 2017 Eye On the Cure Research News
The Foundation Fighting Blindness has taken the translational challenge head on by investing more than $75 million in therapy-development projects with strong clinical-trial potential through its Translational Research Acceleration Program (TRAP), which includes Gund-Harrington Scholar Awards.
May 23, 2017 Eye On the Cure Research News
In its fourth year, the meeting is becoming the world’s most comprehensive overview of the promising research underway for emerging IRD treatments.
Mar 22, 2017 Eye On the Cure Research News
Dr. Berson dedicated himself to clinical care and vision-saving research for people with inherited retinal diseases for five decades.
Mar 16, 2017 Eye On the Cure Research News
“…participation in a study for an emerging therapy that is not regulated by the FDA or another well-recognized regulatory agency like the European Medicines Agency in Europe, is fraught with dangers and can lead to unexpected serious consequences.”
Feb 17, 2017 Eye On the Cure Research News
Company Builds on FFB’s Initial Investment to Garner $265 Million in Therapy Development Funding
Dec 21, 2016 Eye On the Cure Research News
Improved outcome measures will make clinical trials for degenerative retinal diseases — including age-related macular degeneration (AMD), the world’s leading cause of blindness in seniors, and inherited retinal conditions such as RP and Stargardt disease — less expensive to conduct and able to deliver more precise results.
Oct 18, 2016 Eye On the Cure Research News
Understanding the pathways of the retinal neural network — and how they are rewired with aging and disease — is helpful in trying to save and restore vision.
Oct 11, 2016 Eye On the Cure Research News
Dr. Shinya Yamanka discussed his early clinical trial for iPSC-derived retinal pigment epithelial (RPE) cells for a 78-year-old woman with advanced wet age-related macular degeneration (AMD).
Oct 6, 2016 Eye On the Cure Research News
The complex and elusive nature of these conditions can also extend to the way they are passed down in families, making diagnosis and prognosis quite challenging.
Aug 18, 2016 Eye On the Cure Research News
RetroSense’s optogenetic therapy is designed to restore vision to people who are completely blind from retinal degenerative diseases such as retinitis pigmentosa by bestowing light sensitivity to retinal ganglion cells, which survive after photoreceptors, the cells that make vision possible, are lost.
Aug 2, 2016 Eye On the Cure Research News
Both approaches show strong, near-term potential for providing meaningful vision to people who are otherwise blind from retinal diseases such as retinitis pigmentosa and age-related macular degeneration (AMD).
Jul 1, 2016 Eye On the Cure Research News
VISIONS 2016 — Dr. Shomi Bhattacharya Wins FFB Award for Gaining an Understanding of Variations in Vision Loss
At VISIONS 2016, FFB’s national conference, the Foundation honored him with its Ed Gollob Board of Directors Award for breakthrough research conducted within the past year.
Jul 1, 2016 Eye On the Cure Research News
VISIONS 2016 - Dr. Richard Weleber Receives FFB's Highest Research Honor, Recognized in Touching Video
Dr. Weleber became the 10th recipient of the Foundation’s highest honor, named after FFB co-founder Lulie Gund, during the opening lunch of the VISIONS 2016 conference.
Jun 24, 2016 Eye On the Cure Research News
Subretinal injection is the most common form of delivery for gene therapies currently in clinical trials.
Oct 8, 2015 Eye On the Cure Research News
Jun 27, 2015 Eye On the Cure Research News
For those of us supporting the drive for vision-saving treatments and cures, he’s exactly the type of person we want on our team.
Jun 26, 2015 Eye On the Cure Research News
Dr. Boye received the Foundation’s Board of Director’s Award, which was presented at VISIONS 2015, FFB’s annual conference, for achievements in retinal research.
May 19, 2015 Eye On the Cure Research News
The mission of the program—to regenerate the neurons and neural connections in the eye and visual system—is synonymous with the Foundation’s mission to eradicate retinal diseases.
May 12, 2015 Eye On the Cure Research News
One of the hot topics at ARVO this year is a rapidly advancing gene-therapy approach called clustered regularly interspaced short palindromic repeats, or CRISPR.
Aug 1, 2014 Eye On the Cure Research News
An innovative genetic-engineering approach called “directed evolution” to find optimal gene-delivery systems based on adeno-associated viruses (AAVs).
Jun 21, 2014 Eye On the Cure Research News
Dr. Boye and her research team received a $900,000 grant for a gene therapy project targeting Leber congenital amaurosis.
Jun 21, 2014 Eye On the Cure Research News
The powerful and secure system enables patients to keep track of their clinical care and vision changes. At the same time, it enables scientists to search the “de-identified” (i.e., anonymous) patient information to study conditions and identify targets for treatments, preventions and cures.
May 8, 2014 Eye On the Cure Research News
Simply put, they’re creating therapies that can save vision in as many people as possible, independent of the genetic cause of disease.
Apr 8, 2014 Eye On the Cure Research News
Non-24 is a very rare condition affecting many (but not all) people who are totally blind and have absolutely no light perception. Their circadian clocks become out of sync as a result.
Dec 31, 2013 Eye On the Cure Research News
The French retinal implant developer Pixium quietly launched a clinical trial for its Intelligent Retinal Implant System 1 (IRIS1) in France, Austria and Germany.
Jul 26, 2013 Eye On the Cure Research News
Identifying the genes and proteins that play a major role in retinal health and vision is an important step in finding preventions and cures for degenerative diseases.
Jun 12, 2013 Eye On the Cure Research News
Many registries enable patients to collect and track information about their health, so they can take an active role in managing their care.
May 10, 2013 Eye On the Cure Research News
There’s hope for retinal regeneration for humans, thanks to Foundation-funded researcher Dr. Thomas Reh, who is investigating how to derive new photoreceptors from retinal cells called Muller glia.
May 7, 2013 Eye On the Cure Research News
The goal, “to regenerate the neurons and neural connections in the eye and visual system,” is exactly what people with retinal diseases need to save and restore their vision.
Apr 30, 2013 Eye On the Cure Research News
A profile on Dr. Robert Langer, a medical researcher who has received dozens of awards, accolades and honorary degrees, including, recently, FFB’s Visionary Award.
Apr 17, 2013 Eye On the Cure Research News
Mar 8, 2013 Science Education
Sometimes, saving vision simply comes down to keeping retinal cells alive, or at least slowing their degeneration.
Feb 18, 2013 Eye On the Cure Research News
More good news about treatments and technological advances for restoring vision for people with retinal diseases.
Jun 19, 2012 Eye On the Cure Research News
How do you know if a treatment is legit? There should be preclinical and clinical trial data published in a peer-reviewed journal on research for the treatment.
Jul 27, 2018 Beacon Stories
A story about living with retinitis pigmentosa.