Non-hereditary retinoblastoma

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ORPHA:357034OMIM:180200C69.2
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7Specialists8Treatment centers

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UniteRare data is sourced from FDA.gov, ClinicalTrials.gov, Orphanet, OMIM, and NORD.
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Overview

Non-hereditary retinoblastoma, also called sporadic retinoblastoma, is a type of eye cancer that develops in the retina — the light-sensitive tissue at the back of the eye. Unlike the hereditary form, this type is not passed down from parents. Instead, it happens when both copies of the RB1 gene in a single retinal cell become damaged by chance during a child's early development. This means the genetic change occurs only in the tumor cells and is not present throughout the body. Non-hereditary retinoblastoma almost always affects only one eye (unilateral). It is typically diagnosed in young children, most often between the ages of 1 and 3 years. The most common first sign parents notice is a white glow or reflection in the pupil of the eye, sometimes called "cat's eye reflex" or leukocoria. This white glow is often first seen in photographs taken with a flash. Other signs include a crossed or misaligned eye (strabismus), redness, swelling, or changes in vision. Treatment depends on the size and location of the tumor and how advanced the disease is at diagnosis. Options include chemotherapy (given through a vein, directly into the eye, or into the artery feeding the eye), laser therapy, cryotherapy (freezing treatment), radiation therapy, and in some cases surgical removal of the eye (enucleation). With early detection and modern treatments, the survival rate for non-hereditary retinoblastoma is very high — over 95% in developed countries. Because this form is not inherited, the risk of developing cancer in the other eye or other parts of the body later in life is much lower than in the hereditary form.

Key symptoms:

White glow or reflection in the pupil (leukocoria)Crossed or misaligned eyes (strabismus)Redness of the eyeSwelling around the eyePoor vision or vision loss in the affected eyeChange in the color of the irisEnlarged pupilEye painBulging of the eye in advanced casesFailure to track objects with the affected eye

Inheritance

Sporadic

Usually appears on its own, not inherited from a parent

Age of Onset

Infantile

Begins in infancy, roughly 1 month to 2 years old

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Non-hereditary retinoblastoma.

View clinical trials →

No actively recruiting trials found for Non-hereditary retinoblastoma at this time.

New trials open frequently. Follow this disease to get notified.

Search ClinicalTrials.gov ↗Join the Non-hereditary retinoblastoma community →

Specialists

7 foundView all specialists →
LP
Lavanya Vasudevan, PhD
Specialist
PI on 1 active trial
KM
Kristin Schroeder, MD MPH
Specialist
PI on 1 active trial
SM
Sara M. Federico, MD
MEMPHIS, TN
Specialist
PI on 3 active trials
KM
Kim E. Nichols, MD
Memphis, Tennessee
Specialist

Rare Disease Specialist

PI on 2 active trials
CM
Catherine Albert, MD
Specialist
PI on 3 active trials
KM
Kelly Goldsmith, MD
PEORIA, IL
Specialist
PI on 2 active trials
JW
James Whitlock
Specialist
PI on 1 active trial4 Non-hereditary retinoblastoma publications

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 Non-hereditary retinoblastoma.

Search all travel grants →NORD Financial Assistance ↗

Community

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Latest news about Non-hereditary retinoblastoma

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Caregiver Resources

NORD Caregiver Resources

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Mental Health Support

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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.What stage is my child's retinoblastoma, and has it spread beyond the eye?,What treatment options are available, and is there a chance of saving the eye and vision?,Has genetic testing confirmed that this is the non-hereditary form, and what does that mean for my other children or future pregnancies?,How often will my child need follow-up eye exams, and for how long?,What are the short-term and long-term side effects of the recommended treatment?,Are there clinical trials or newer treatments that might be appropriate for my child?,What support services are available for my child and our family during and after treatment?

Common questions about Non-hereditary retinoblastoma

What is Non-hereditary retinoblastoma?

Non-hereditary retinoblastoma, also called sporadic retinoblastoma, is a type of eye cancer that develops in the retina — the light-sensitive tissue at the back of the eye. Unlike the hereditary form, this type is not passed down from parents. Instead, it happens when both copies of the RB1 gene in a single retinal cell become damaged by chance during a child's early development. This means the genetic change occurs only in the tumor cells and is not present throughout the body. Non-hereditary retinoblastoma almost always affects only one eye (unilateral). It is typically diagnosed in young c

How is Non-hereditary retinoblastoma inherited?

Non-hereditary retinoblastoma follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Non-hereditary retinoblastoma typically begin?

Typical onset of Non-hereditary retinoblastoma is infantile. Age of onset can vary across affected individuals.

Which specialists treat Non-hereditary retinoblastoma?

7 specialists and care centers treating Non-hereditary retinoblastoma are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.