A menudo diagnosticada en la niñez o adolescencia, la RP es una enfermedad retiniana hereditaria que causa una pérdida progresiva de la visión nocturna y periférica. La condición a menudo conlleva a una ceguera legal y a veces completa.
Sobre la Enfermedad
La retinitis pigmentaria, también conocida como RP, se refiere a un grupo de enfermedades hereditarias que causan degeneración retiniana. 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 gente con RP experimenta una disminución gradual en su visión, porque los fotorreceptores se degeneran.
Las formas de RP y enfermedades relacionadas incluyen el síndrome de Usher, Amaurosis congénita de Leber, y el síndrome de Bardet-Biedl, entre otras.
Síntomas
Los síntomas dependen de si se ven involucrados inicialmente los conos o bastones. En la mayoría de las variantes de RP, los bastones son afectados primero. Debido a que los bastones están concentrados en las porciones exteriores de la retina y son activados por luz tenue, su degeneración afecta a la visión periférica y nocturna. La visión se vuelve más oprimida con el pasar del tiempo. Si la enfermedad progresa y los conos se ven afectados, la agudeza visual, percepción de color, y visión central disminuirán.
La ceguera nocturna es uno de los síntomas más tempranos y frecuentes de la RP. Las personas perincipalmente con degeneración de conos, sin embargo, primero experimentan una visión central disminuida y una habilidad reducida para discriminar colores y percibir detalles.
La RP se diagnostica típicamente en niños, adolescentes y adultos jóvenes. Es un desorden progresivo. La tasa de progresión y el grado de pérdida visual varían según la persona. Muchas personas con RP llegan legalmente ciegas a los 40 años, con un campo visual central de menos de 20 grados de diámetro.
Herencia
Se estima que 100.000 personas en EEUU tienen RP, principalmente causada por mutaciones (variaciones) en un único gen heredado de uno o ambos padres. El gen mutado le da instrucciones incorrectas a las células fotorreceptoras, diciéndoles que hagan una proteína incorrecta, o muy poca o demasiada proteína. (Las células necesitan la cantidad apropiada de proteínas específicas para poder funcionar adecuadamente.) Mutaciones en decenas de genes han sido vinculadas a la RP.
Las mutaciones genéticas pueden pasarse del padre a la descendencia a través de uno de los tres patrones genéticos de herencia: autosomal recesivo, autosomal dominante, o vinculado a X.
En la RP autosomal recesiva, ambos padres portan una copia del gen mutado y una copia normal, pero no tienen síntomas. Por lo tanto se los llama portadores no afectados. Cada uno de sus hijos tiene un 25% de probabilidad de verse afectado por la herencia de una copia mutada de cada padre. Si el hijo hereda una copia mutada de un padre, se convertirá en un portador no afectado.
En la RP autosomal dominante, usualmente un padre es afectado y es el único padre con una copia mutada del gen. Un hijo tiene un 50% de probabilidad de verse afectado a través de la herencia de una copia mutada. No se conoce rol alguno de la genética de padres no afectados en la herencia de la enfermedad.
En la RP vinculada a X, el gen mutado de la enfermedad está ubicado en el cromosoma X. Las mujeres tienen dos cromosomas X y pueden portar el gen de la enfermedad en uno de sus cromosomas X. Como tienen una versión saludable del gen en su otro cromosoma X, las portadoras mujeres usualmente no se ven afectadas por las enfermedades vinculadas a X. Los varones sólo tiene un cromosoma X (emparejado con un cromosoma Y) y por lo tanto son genéticamente más susceptibles a enfermedades vinculadas a X. Los varones con enfermedades vinculadas a X pasan su cromosoma Y a sus hijos varones, y por lo tanto nunca pasarán una enfermedad vinculada a X a sus hijos varones. Las portadoras mujeres tienen un 50% de probabilidad (o 1 probabilidad en 2) de pasar el gen de la enfermedad vinculada a X a sus hijas mujeres, las cuales se vuelven portadoras, y un 50% de probabilidad de pasar el gen a sus hijos varones, quienes serán afectados por la enfermedad.
Si un familiar es diagnosticado con RP, a menudo se aconseja que otros miembros de la familia también examinen sus ojos con un médico que esté especialmente entrenado para detectar y tratar desórdenes degenerativos retinianos. Los asesores genéticos son un excelente recurso para hablar sobre heredabilidad, planificación familiar, pruebas genéticas, y otros temas relacionados.
Viviendo con la Enfermedad
Hay muchos servicios y recursos de asistencia y adaptación disponibles para las personas y familias con RP. 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.
Más información sobre cómo manejar RP en la sección Newly Diagnosed de este sitio web.
Prueba Genética
Está disponible la prueba genética para RP. Ayuda a evaluar el riesgo de pasar el desorden 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.
Join the fight and help us accelerate our mission
Next Section
Latest News
-
Nanoscope Begins Rolling BLA Submission to FDA for Seeking Approval for its Optogenetic Therapy
Research NewsThe company plans to complete BLA submission in early 2026.
-
Opus Genetics Awarded Non-Dilutive Funding from the RD Fund to Support Preclinical Development of OPGx-MERTK Program
In the PressOpus Genetics secures up to $2M in non-dilutive funding from the RD Fund to advance its OPGx-MERTK gene therapy program targeting retinitis pigmentosa caused by MERTK mutations.
-
Retinal Research Community Urges Johnson & Johnson to Seek Regulatory Approval for its XLRP Gene Therapy
Research NewsPatients have reported life-changing vision improvements after treatment in the Phase 3 LUMEOS trial.
-
ARVO 2025 Highlight: J&J’s XLRP Gene Therapy Didn’t Meet Primary Endpoint in Phase 3 Clinical Trial
Research NewsDespite missing the primary endpoint, the treatment improved vision for some patients.
-
ARVO 2025 Highlight: PYC Reports Encouraging Phase 1/2 Clinical Trial Results for its RNA Therapy Targeting RP (PRPF31 Mutations)
Research NewsThe company is planning a Phase 2/3 clinical trial for the therapy in late 2025.
-
ARVO 2025 Highlight: Beacon Reports Encouraging Results for Second Eyes Dosed in Clinical Trial for XLRP Gene Therapy
Research NewsThe company is currently enrolling patients in its Phase 2/3 VISTA Clinical Trial.
-
Honoring the Legacy of Bob Reintsma: A Visionary in the Fight Against Blinding Diseases
Foundation NewsBob Reintsma was fiercely passionate about driving treatments and cures for blinding diseases for most of his life. The Foundation is extremely grateful for Bob’s dedication to our mission and legacy of generosity.
-
Sepul Bio Launches Phase 2b Clinical Trial for USH2A RNA Therapy
Research NewsKnown as ultevursen, the USH2A RNA therapy was licensed from ProQR.
-
BlueRock’s Photoreceptor Cell Therapy to Move into Clinical Trial
Research NewsThe Foundation funded Dr. David Gamm for development of the induced pluripotent stem cell approach to be used in the trial.
-
Kiora Receives Authorization for Phase 2 Clinical Trial of its Photoswitch for Advanced RP
Research NewsThe 36-participant trial will take place at multiple sites in Australia.
-
Opus Genetics, Ocuphire Merger to Boost Advancement of Several IRD Gene Therapies
Research NewsMerger will provide additional capital for gene therapy development.
-
Vision: A Memoir of Blindness and Justice — A New York Times Editor’s Pick
Foundation News“Tatel’s humility and tenacity shine. The result is a stirring reflection on an extraordinary life,” Publishers Weekly
-
Antabuse Moves into Clinical Trial for People with RP
Research NewsResearchers believe the FDA-approved drug can reduce the hyperactivity of ganglion cells to improve vision.
-
Foundation Fighting Blindness Awards Inaugural Grants in PRPH2 and Associated Retinal Diseases Program
Foundation NewsAdvancing Research Solutions for PRPH2-Associated Retinal Diseases.
-
BlueRock Therapeutics and Foundation Fighting Blindness announce collaboration to expand the Uni-Rare natural history study of patients living with inherited retinal diseases
Foundation NewsCollaboration will add a new multi-gene cohort of patients living with inherited retinal diseases. Data insights from the new study cohort will inform the future clinical trial design for BlueRock’s pipeline of cell therapies for treating blindness.
-
Foundation Funds 25 New Grants Totaling $15.1 Million in FY23
Research NewsThe global leader in retinal degenerative disease research supports a total of 93 research grants in its portfolio.
-
Foundation Launching its Largest Natural History Study to Date for 1,500 People with Inherited Retinal Diseases Caused by Rare Mutated Genes
Foundation NewsUni-Rare Study will improve clinical understanding of more IRDs and boost development of potential therapies.
-
RD Fund Participates in a €75 Million Series B for SparingVision
In the PressProceeds to fund first, in-human trials of breakthrough gene-agnostic therapy products and advance CRISPR-based genome editing portfolio.
-
Foundation Commits More Than $15 Million to 23 Promising Research Projects for Eradicating Retinal Diseases
Research NewsFunding for the new grants was made possible by Foundation’s strong donor base and philanthropic partners
-
Renowned Pioneers in Ophthalmology Join SparingVision’s Scientific Advisory Board
In the PressDevelopment of lead asset SPVN06 to further benefit from high-level Clinical Advisory Board
-
Foundation Fighting Blindness To Jointly Host Online Continuing Medical Education (CME, COPE) Webinar
Foundation NewsThe event will review best practices for care and management of patients with inherited retinal diseases such as retinitis pigmentosa, Usher syndrome, and Stargardt disease.
-
Foundation Fighting Blindness Commits $6.5 Million for New Retinal Disease Research Grants
Foundation NewsNew grants include development of CRISPR/Cas9 gene-editing treatments, new disease models, and a retinal regeneration therapy
-
COVID-19 Resources
Foundation NewsThe Foundation Fighting Blindness is closely monitoring the COVID-19 situation and its impact on the IRD community.
-
Unstoppable: With Her “Trusty Guide Shiloh” By Her Side, Janni Lehrer-Stein Travels the World and Advocates for Disability Rights
In the PressPeople with disabilities are no different from anyone else. We all have strengths and challenges, and we all seek to be fully engaged in society. Treating blind people differently, either as incapable of conducting everyday tasks in life, or conversely, acting as though our ability to conduct even the most mundane chore is remarkable can be discouraging.
-
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
Foundation NewsMy Retina Tracker Program is the highest volume IRD genetic testing program in the U.S.
-
Foundation Fighting Blindness Launches Natural History Study for People with RP Caused by EYS Gene Mutations
Foundation NewsKnown as Pro-EYS, the study will help researchers design clinical trials for potential therapies
-
Blueprint Genetics, InformedDNA and the Foundation Fighting Blindness launch an open access program for patients with inherited retinal disease in the United States
Foundation NewsThe 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.
-
Tackling the Next Gene Therapy Challenge: Autosomal Dominant Diseases
Foundation NewsA discussion of strategies concerning the development of autosomal dominant disease therapies at the Translational Research Acceleration Program (TRAP) in November 2013.
-
Foundation Fighting Blindness Urges Congress to Pass ‘Eye-Bonds’ Legislation
Foundation NewsBill Introduced in U.S. House Would Speed Up Cures for Blindness
-
Foundation Fighting Blindness and CheckedUp® Partner to Educate Retinal-Disease Patients About Research, Resources, and Emerging Therapies During Doctor Visits
Foundation NewsThe 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.
-
A Retinal Research Nonprofit Paves the Way for Commercializing Gene Therapies
In the PressAN EMERGING, vision-restoring gene therapy for a devastating retinal disease is poised for Food and Drug Administration (FDA) approval. If it gets the regulatory nod, it will be the first gene therapy to receive FDA approval for the eye or an inherited condition.
Related Resources
ProQR Announces Virtual Presentations at Scientific Conferences
ProQR Therapeutics N.V. (Nasdaq:PRQR), a company dedicated to changing lives through the creation of transformative RNA therapies for severe genetic rare diseases, today announced virtual presentations at the Ophthalmology Futures Retina Forum, European Society of Retina Specialists (Euretina) congress and the Annual Meeting of the American Academy of Optometry (AAOpt).
Podcasts
-
Eye on the Cure Podcast | Episode 88: Richard Small
Eye on the CureRichard Small, CEO of Neurotech, talks to host Ben Shaberman about ENCELTO™, the first and only FDA-approved treatment for adults with idiopathic Macular Telangiectasia Type 2 (MacTel).
-
Eye on the Cure Podcast | Episode 86: Lenore von Krusenstiern, MD, PhD
Eye on the CureDr. Lenore von Krusenstiern talks about Bluerock’s clinical trial for a photoreceptor replacement therapy for people with inherited retinal conditions such as retinitis pigmentosa and cone-rod dystrophy.
-
Eye on the Cure Podcast | Episode 76: The Lemay-Pelletier Family
Eye on the CureWhen the Lemay-Pelletier family from Montreal learned that three of their four children were losing vision from retinitis pigmentosa, they made the bold decision to spend 15 months traveling the world to give their kids as many visual memories as possible.
-
Eye on the Cure Podcast | Episode 70: Karen Petrou
Eye on the CureKaren Petrou, the new board chair at the Foundation, talks to host Ben Shaberman about her vision for the Foundation moving forward. Karen has been an active director on the Foundation’s board for nearly two decades. She is co-founder and managing partner of Federal Financial Analytics, a firm providing analytical and advisory services on legislative, regulatory, and public-policy issues affecting financial services companies. Karen has RP and lives in Washington, DC, with her guide dog, Ike.
.png)
