Overview
Martinique crinkled retinal pigment epitheliopathy is a very rare eye condition that was first described in families from the island of Martinique in the French West Indies. This disease affects the retinal pigment epithelium (RPE), which is a thin layer of cells at the back of the eye that supports the light-sensing cells needed for vision. In this condition, the RPE develops an unusual crinkled or wrinkled appearance, which can be seen during eye examinations. The changes in the RPE can affect how well the retina functions and may lead to gradual changes in vision over time. Because this disease is extremely rare, detailed information about its full range of symptoms, natural history, and treatment options is limited. Patients may notice changes in their central vision, difficulty seeing fine details, or subtle distortions in their visual field. The condition appears to run in families, suggesting a genetic cause, though the specific gene or genes responsible have not yet been clearly identified. Currently, there is no specific cure or targeted treatment for this condition. Management focuses on regular eye monitoring and supportive care to preserve vision as much as possible. Patients are encouraged to work closely with retinal specialists and clinical geneticists to stay informed about any new research developments.
Also known as:
Key symptoms:
Crinkled or wrinkled appearance of the retinal pigment layer at the back of the eyeChanges in central visionDifficulty seeing fine detailsMild visual distortionAbnormal findings on retinal imagingPossible gradual decline in visual sharpness
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Martinique crinkled retinal pigment epitheliopathy.
View clinical trials →Clinical Trials
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Specialists
View all specialists →No specialists are currently listed for Martinique crinkled retinal pigment epitheliopathy.
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 Martinique crinkled retinal pigment epitheliopathy.
Community
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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.How advanced are the changes in my retina, and what does this mean for my vision?,How often should I have eye exams to monitor this condition?,Are there any treatments or clinical trials available for this disease?,Should my family members be screened for this condition?,Is genetic testing recommended for me or my family?,What low vision aids or support services can help me in daily life?,Are there any activities or exposures I should avoid to protect my vision?
Common questions about Martinique crinkled retinal pigment epitheliopathy
What is Martinique crinkled retinal pigment epitheliopathy?
Martinique crinkled retinal pigment epitheliopathy is a very rare eye condition that was first described in families from the island of Martinique in the French West Indies. This disease affects the retinal pigment epithelium (RPE), which is a thin layer of cells at the back of the eye that supports the light-sensing cells needed for vision. In this condition, the RPE develops an unusual crinkled or wrinkled appearance, which can be seen during eye examinations. The changes in the RPE can affect how well the retina functions and may lead to gradual changes in vision over time. Because this di
How is Martinique crinkled retinal pigment epitheliopathy inherited?
Martinique crinkled retinal pigment epitheliopathy follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.