Overview
Combined hamartoma of the retina and retinal pigment epithelium (CHRRPE) is a rare, non-cancerous growth that forms in the back of the eye. It involves an abnormal mix of retinal tissue and the pigment layer beneath it (called the retinal pigment epithelium). These growths are benign tumors, meaning they are not cancer, but they can still cause significant vision problems depending on where they form and how large they grow. The condition is also sometimes called combined retinal hamartoma or CHRRPE for short. The hamartoma typically appears as a slightly raised, grayish or pigmented lesion on the retina. When it grows near the center of the retina (the macula) or involves the optic nerve, it can distort or reduce vision. Some people notice that straight lines look wavy or bent — a symptom called metamorphopsia. Others may experience reduced sharpness of vision or a blind spot. In some cases, the condition is discovered during a routine eye exam with no symptoms at all. CHRRPE is often diagnosed in children and young adults, though it can be found at any age. It is sometimes associated with other conditions, most notably neurofibromatosis type 2 (NF2), a genetic disorder affecting the nervous system. Treatment focuses on monitoring the lesion and managing complications such as fluid buildup or membrane formation on the retina. There is no cure, but many people maintain useful vision with careful follow-up care.
Also known as:
Key symptoms:
Blurry or reduced sharpness of visionStraight lines appearing wavy or distorted (metamorphopsia)A dark or blind spot in the field of visionReduced vision in one eyeStrabismus (crossed or misaligned eyes), especially in childrenLazy eye (amblyopia) in childrenA visible grayish or pigmented patch seen on eye examLeakage of fluid under or within the retinaWrinkling of the retinal surface (epiretinal membrane)
Clinical phenotype terms (7)— hover any for plain English
Sporadic
Usually appears on its own, not inherited from a parent
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Combined hamartoma of the retina and retinal pigment epithelium.
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Specialists
View all specialists →No specialists are currently listed for Combined hamartoma of the retina and retinal pigment epithelium.
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 Combined hamartoma of the retina and retinal pigment epithelium.
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Caregiver Resources
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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.Where exactly is the hamartoma located in my eye, and how does that affect my vision outlook?,Should I be tested for neurofibromatosis type 2, and should my family members be evaluated?,How often do I need follow-up eye exams, and what imaging will be done each visit?,What warning signs should prompt me to call you or go to the emergency room right away?,Are there any treatments that could help if my vision gets worse over time?,If I have a child with this condition, what vision support or school accommodations should I arrange?,Are there any clinical trials or research studies I should know about?
Common questions about Combined hamartoma of the retina and retinal pigment epithelium
What is Combined hamartoma of the retina and retinal pigment epithelium?
Combined hamartoma of the retina and retinal pigment epithelium (CHRRPE) is a rare, non-cancerous growth that forms in the back of the eye. It involves an abnormal mix of retinal tissue and the pigment layer beneath it (called the retinal pigment epithelium). These growths are benign tumors, meaning they are not cancer, but they can still cause significant vision problems depending on where they form and how large they grow. The condition is also sometimes called combined retinal hamartoma or CHRRPE for short. The hamartoma typically appears as a slightly raised, grayish or pigmented lesion o
How is Combined hamartoma of the retina and retinal pigment epithelium inherited?
Combined hamartoma of the retina and retinal pigment epithelium follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.