Combined hamartoma of the retina and retinal pigment epithelium

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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
Nasolacrimal duct obstructionHP:0000579VitreoretinopathyHP:0007773Abnormal optic disc morphologyHP:0012795Retinal vascular tortuosityHP:0012841
Inheritance

Sporadic

Usually appears on its own, not inherited from a parent

Age of Onset

Variable

Can begin at different ages, from infancy through adulthood

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Combined hamartoma of the retina and retinal pigment epithelium.

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No actively recruiting trials found for Combined hamartoma of the retina and retinal pigment epithelium at this time.

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No specialists are currently listed for Combined hamartoma of the retina and retinal pigment epithelium.

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Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA 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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Community

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Caregiver Resources

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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.