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About the Childhood Ocular Oncology Service

  • Tumors related to the eye, also known as ocular tumors, can range from harmless to potentially life-threatening and can be primary (first discovered in the eye) or metastatic (spreading from another location). Retinoblastoma is the most common type of ocular tumor found in children.

    The ocular oncology service brings together experts in ophthalmology, oncology, neuro-interventional radiology, cancer genetics, and radiation oncology to provide exceptional, coordinated care to patients diagnosed with eye tumors.

    We primarily diagnose and treat children with retinoblastoma at the Childhood Solid Tumor Center. Our team also has experience treating a wide range of other childhood conditions that affect the eye, including:

    • Astrocytoma
    • Conjunctival tumor (benign or malignant)
    • Choroid and retina tumor
    • Congenital hypertrophy of the retinal pigment epithelium (CHRPE)
    • Eyelid tumor (benign or malignant)
    • Hamartoma
    • Iris tumor (benign or malignant)
    • Iris nevus
    • Iris metastasis
    • Iris cyst (congenital or acquired)
    • Intraocular opportunistic infection/tumor
    • Lymphoma
    • Meningioma
    • Melanocytoma
    • Metastasis to the eye
    • Optic nerve tumor (benign or malignant)
    • Orbital pseudotumor (intracranial hypertension)
    • Orbital tumor (benign or malignant)
    • Retinal astrocytic hamartoma
    • Retinoblastoma
    • Rhabdomyosarcoma
    • Retinal pigment epithelium (RPE) carcinoma
    • Vascular tumor (hemangioma)

    We also provide specialized care for certain genetic syndromes that cause tumors or other symptoms within the eye. Experts in our Pediatric Cancer Genetic Risk Program can offer patients genetic counseling and tumor surveillance.

    Common syndromes that may cause eye tumors or other complications include:

    • Hereditary retinoblastoma is associated with a high risk for multiple retinoblastomas in both eyes.
    • Familial adenomatous polyposis (FAP) can sometimes lead to congenital hypertrophy of the retinal pigment epithelium (RPE), a pigmented lesion in the retina.
    • DICER1 syndrome is associated with ciliary body medulloepithelioma (CBME), a rare ocular tumor typically found in children under 10 years old.
    • Tuberous sclerosis is a genetic disorder that causes tumors throughout the body, including retinal tumors.
    • Neurofibromatosis can sometimes cause tumors to develop on the optic nerve (optic glioma).
    • Von Hippel-Lindau syndrome (VHL) is characterized by tumors and cysts found in different parts of the body, including the retina.

    How We Diagnose and Treat Childhood Ocular Tumors

    Our doctors will perform a complete eye exam under anesthesia to view and examine the entire eye. They will also order several different tests to diagnose an ocular tumor, including:

    • Eye ultrasound
    • Eye photographs
    • Optical coherence tomography
    • Fluorescein angiography
    • Other advanced imaging studies

    After diagnosis, your medical team will recommend a treatment plan that considers:

    • The tumor's type, location, and size
    • Your child's age, overall health, and medical history
    • The extent of disease
    • The doctor's expectations of how the tumor will behave

    Treatments may include:

    • Chemotherapy: We offer an innovative new form of chemotherapy known as intra-arterial chemotherapy. Doctors use it to treat certain types of retinoblastoma. The treatment involves injecting the chemotherapy directly into one of the main blood vessels of the eye. This approach minimizes the amount of contact the chemotherapy has with the rest of the body. We also use systemic chemotherapy and intravitreal chemotherapy.
    • Surgery: If the cancer does not respond to other treatments, we may need to perform surgery to remove the tumor.
    • Focal therapy: We use cryotherapy (cold) and thermotherapy (heat) to treat small tumors.
    • Radiation therapy: Doctors may use external radiation or targeted radiation with plaque brachytherapy.
    • Stem cell transplant: For the rare patient with metastatic disease, high-dose chemotherapy with stem cell transplant is an option that we can provide.

    After treatment, we continue to care for your child's physical, mental, and emotional health through our pediatric survivorship programs.

    Childhood Ocular Oncology Clinical Trials and Research

    Our research program offers unique access to clinical trials in which children can receive the newest treatments. We focus on quickly translating scientific discoveries to patient treatment. Through this research, our physicians work to improve therapeutic approaches and outcomes for children with ocular tumors.

    Our Childhood Ocular Oncology Program Specialists

    We use a multidisciplinary approach to patient care and work closely to coordinate our efforts across the specialized services of pediatric ophthalmology, pediatric oncology, radiation oncology, and interventional radiology.

    Ophthalmologists on the ocular oncology team are also trained as pediatric ophthalmologists. We treat the tumor and care for all aspects of the eye, including visual system development.

    Efren Gonzalez, MD
    Director, Ocular Oncology Service
    Department of Ophthalmology, Boston Children's Hospital

    Junne Kamihara, MD, PhD
    Director of Medical Therapies, Ocular Oncology Service
    Co-Director, Pediatric Cancer Genetic Risk Program
    Solid Tumor Center, Dana-Farber/Boston Children's Cancer and Blood Disorders Center

    Darren B. Orbach, MD, PhD
    Chief, Neurointerventional Radiology, Boston Children's Hospital

    Allison F. O'Neill, MD
    Director, Solid Tumor Center, Dana-Farber/Boston Children's Cancer and Blood Disorders Center

    Ankoor Shah, MD, PhD
    Pediatric Ophthalmology, Ocular Oncology Team, Boston Children's Hospital

    Deborah VanderVeen, MD
    Pediatric Ophthalmology, Ocular Oncology Team, Boston Children's Hospital

    Jaclyn Schienda, ScM, LCGC
    Lead Genetic Counselor, Pediatric Cancer Genetic Risk Program, Dana-Farber/Boston Children's Cancer and Blood Disorders Center

    See our entire Childhood Solid Tumor Treatment Team.