Overview
Late-onset retinal degeneration (L-ORD) is a rare inherited eye disease that slowly damages the retina — the light-sensitive layer at the back of the eye. The retina is responsible for capturing images and sending them to the brain, so when it breaks down, vision becomes progressively worse over time. L-ORD is sometimes called 'late-onset retinal dystrophy' and is caused by changes in a gene called C1QTNF5 (also known as CTRP5). The disease usually does not cause noticeable problems until a person reaches their 50s or 60s, which is why it is called 'late-onset.' The most common early sign is difficulty seeing in dim light or at night, a problem called night blindness. Over time, people may also develop abnormal deposits under the retina, thinning of the retinal tissue, and eventually loss of central vision. Some people also develop abnormal blood vessel growth under the retina, similar to what happens in age-related macular degeneration (AMD). Because L-ORD looks a lot like AMD, it is sometimes misdiagnosed. Currently, there is no cure for L-ORD, and no treatments have been specifically approved for this condition. Management focuses on monitoring vision changes, using low-vision aids, and in some cases treating complications like abnormal blood vessel growth. Research is ongoing, and gene therapy approaches are being explored. Regular follow-up with a retinal specialist is very important for people living with this condition.
Also known as:
Key symptoms:
Difficulty seeing in low light or at night (night blindness)Gradual loss of central visionBlurry or distorted visionAbnormal deposits under the retina visible on eye examsThinning of the retinal tissue over timeAbnormal blood vessel growth under the retinaSensitivity to bright lightLoss of color vision in later stagesReduced ability to read or recognize facesSlow adaptation when moving between light and dark environments
Clinical phenotype terms (22)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Late onset
Begins later in life, typically after age 50
FDA & Trial Timeline
3 eventsMichał Jaśkiewicz
Seoul National University Hospital — NA
Normocarb HF: FDA approved
Use as a replacement solution in Continuous Renal Replacement Therapy (CRRT) to replace water and to correct electrolytes and acid-base imbalances in adults and children
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
1 availableNormocarb HF
Use as a replacement solution in Continuous Renal Replacement Therapy (CRRT) to replace water and to correct electrolytes and acid-base imbalances in adults and children
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Late-onset retinal degeneration.
Community
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Disease timeline:
New recruiting trial: The Relationship Between Myonectin Concentration and the Course of ST-segment Elevation Myocardial Infarction
A new clinical trial is recruiting patients for Late-onset retinal degeneration
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.Has my diagnosis been confirmed with genetic testing for the C1QTNF5 gene?,How quickly do you expect my vision to change, and what signs should prompt me to call you urgently?,Am I at risk for the complication of abnormal blood vessel growth, and how will we monitor for it?,Should my children or siblings be tested for this condition?,Are there any clinical trials for L-ORD that I might be eligible to join?,What low vision aids or rehabilitation services do you recommend for me right now?,Are there any vitamins, supplements, or lifestyle changes that might help protect my remaining vision?
Common questions about Late-onset retinal degeneration
What is Late-onset retinal degeneration?
Late-onset retinal degeneration (L-ORD) is a rare inherited eye disease that slowly damages the retina — the light-sensitive layer at the back of the eye. The retina is responsible for capturing images and sending them to the brain, so when it breaks down, vision becomes progressively worse over time. L-ORD is sometimes called 'late-onset retinal dystrophy' and is caused by changes in a gene called C1QTNF5 (also known as CTRP5). The disease usually does not cause noticeable problems until a person reaches their 50s or 60s, which is why it is called 'late-onset.' The most common early sign is
How is Late-onset retinal degeneration inherited?
Late-onset retinal degeneration follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Late-onset retinal degeneration typically begin?
Typical onset of Late-onset retinal degeneration is late onset. Age of onset can vary across affected individuals.
Are there clinical trials for Late-onset retinal degeneration?
Yes — 1 recruiting clinical trial is currently listed for Late-onset retinal degeneration on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Late-onset retinal degeneration?
10 specialists and care centers treating Late-onset retinal degeneration are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.
What treatment and support options exist for Late-onset retinal degeneration?
1 patient support program are currently tracked on UniteRare for Late-onset retinal degeneration. See the treatments and support programs sections for copay assistance, eligibility, and contact details.