Choroideremia is an inherited retinal disease that causes progressive vision loss due to cell due to degeneration of the choroid, the retinal pigment epithelium or RPE, and the photoreceptors.
About the Disease
Choroideremia is an inherited disease that causes progressive loss of vision due to degeneration of cell layers in the retina, the tissue that lines the back wall of the eye and makes vision possible. The affected layers include the choroid, the retinal pigment epithelium or RPE, and the photoreceptors. The choroid consists of blood vessel layers located between the retina and the sclera. Choroidal vessels provide the RPE and photoreceptors with oxygen and nutrients necessary for normal function. The RPE provides essential support functions for photoreceptors. The photoreceptors are responsible for converting light into the electrical impulses that are transferred to the brain where the images we see are created.
As an X-linked disease, choroideremia occurs primarily in males. In childhood, night blindness is the most common first symptom. As the disease progresses, there is loss of peripheral vision or “tunnel vision” and later a loss of central vision. Progression of the disease continues throughout the individual’s life, although both the rate and the degree of visual loss can vary, even within the same family.
Choroideremia is caused by mutations in the CHM gene. The condition is passed down in families by the X-linked pattern of inheritance. In this type of inheritance, the mutated gene for the disease is located on the X chromosome. Females have two X chromosomes and can carry the disease gene on one of their X chromosomes. Because they have a healthy version of the gene on their other X chromosome, carrier females are usually not affected by X-linked diseases. Males have only one X chromosome (paired with one Y chromosome) and are therefore genetically susceptible to X-linked diseases. Males with X-linked diseases pass their Y chromosome to their sons, and therefore will never pass an X-linked disease to their sons. Female carriers have a 50 percent chance (or 1 chance in 2) of passing the X-linked disease gene to their daughters, who become carriers, and a 50 percent chance of passing the gene to their sons, who are then affected by the disease.
Living with the Disease
There are many services and accommodative and assistive resources available to people and families with choroideremia. Visit the Foundation’s Living and Thriving pages to learn about many of these resources. A low vision specialist can help recommend the resources that are right for you.
More information on managing choroideremia is in the Newly Diagnosed section of this Web site.
Genetic testing is available for choroideremia. It helps with attaining an accurate diagnosis and assessing the risk of passing the disorder from parent to offspring. A patient with an accurate diagnosis is in a better position to understand which emerging treatment approaches and clinical trials are most appropriate for them.
Research and Clinical Trials
The Foundation is supporting several promising avenues of research, including gene, stem-cell, and drug therapies.
To learn about clinical trials underway for choroideremia, visit www.ClinicalTrials.gov.
Jul 19, 2018 Press Releases
Bill Introduced in U.S. House Would Speed Up Cures for Blindness
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 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.
Sep 11, 2018 Eye On the Cure Research News
On September 4, 2018, seven researchers, including six previously funded by the Foundation, were recognized with the prestigious 2018 Antonio Champalimaud Vision Award for their contributions to the advancement of blindness-reversing RPE65 gene therapies.
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 session 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
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.
Apr 25, 2018 Eye On the Cure Research News
More than 11,000 eye researchers from around the world — including five intrepid members from FFB’s science team — will gather to participate in what is essentially a massive “show and tell” of the latest scientific advancements.
Mar 8, 2018 Eye On the Cure Research News
Nightstar Therapeutics, a retinal-disease, gene-therapy development company in the UK, is advancing its emerging gene therapy for choroideremia into a Phase 3 clinical trial known as STAR. The study will enroll approximately 140 patients at 18 clinical sites in the US, Europe, Canada, and South America.
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, FFB 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.
May 8, 2017 Eye On the Cure Research News
How the Foundation Fighting Blindness (FFB) provided timely funding of $155,000 to help a lab at the University of California, San Diego (UCSD), leverage a $2 million retinal-gene discovery project.
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
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.
Apr 28, 2016 Eye On the Cure Research News
Five of six patients in NightStaRx’s choroideremia gene-therapy trial continue to benefit from the treatment.
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.
Jun 30, 2013 Beacons of Hope
Rollie and Sandie Purvis, parents of two sons with choroideremia, describe their sons’ film project, “Driving Blind.”