Ocular Oncology Service

Our team is focused on treating the childhood cancer, retinoblastoma, in a multi-disciplinary fashion, carefully considering each patient’s case and goals of the family. We also have the expertise to diagnose and treat a wide range of other conditions, including:

• Adenoma
• Astrocytoma
• Conjunctival tumor (benign or malignant)
• Choroidal melanoma
• Choristoma (simple or complex)
• Ciliary body tumor
• 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
• Lisch nodule
• Lacrimal gland tumor (benign or malignant)
• Leiomyoma
• Lymphoma
• Medulloepithelioma
• Meningioma
• Melanocytoma
• Metastasis to the eye
• Nevoid basal cell carcinoma syndrome (NBCCS)
• Optic nerve tumor (benign or malignant)
• Orbital pseudotumor (intracranial hypertension)
• Orbital tumor (benign or malignant)
• Retinal astrocytic hamartoma
• Rhabdomyosarcoma
• Retinal pigment epithelium (RPE) carcinoma
• Vascular tumor (hemangioma)

Certain genetic syndromes can cause tumors or other symptoms within the eye. We provide multidisciplinary care for these syndromes through our Pediatric Cancer Genetic Risk Program, offering genetic counseling and tumor surveillance when needed. Some of these symptoms and the conditions they may be associated with are listed below:

• 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

Our doctors will perform a complete eye exam and order a number of different tests in order to diagnose an ocular tumor. These tests may include an eye ultrasound, eye photographs, optical coherence tomography, fluorescein angiography, a CT scan, a PET scan, and MRI. A comprehensive eye exam under anesthesia is performed, so that the doctor may view and examine the entire eye. During diagnosis, our doctors will determine the number, size, and location of the tumor and whether it has spread.

Treatments for ocular tumors are based on the type, location, and size of the tumor; the child’s age, overall health, and medical history; the extent of disease; and the doctor’s expectations for how the tumor will behave. Treatments may include systemic chemotherapy, targeted intra-arterial chemotherapy, intravitreal chemotherapy, surgical removal of the eye (if the cancer does not respond to other treatments), focal therapy (such as cryotherapy (cold) and thermotherapy (heat) to treat small tumors), or radiation therapy (this can be in the form of external radiation or targeted with plaque brachytherapy).

Intra-arterial chemotherapy, a newer treatment available at Dana-Farber/Boston Children’s Cancer and Blood Disorders Center, is used to treat certain types of retinoblastoma. Not all tumors are good candidates for this treatment modality. This treatment involves injecting the chemotherapy directly into one of the main blood vessels of the eye, minimizing the amount of contact the chemotherapy has with the rest of the body. This treatment can reduce systemic side effects.

For the rare patient with metastatic disease, high-dose chemotherapy with stem cell transplant is an option that we can provide.

We use a multidisciplinary approach to patient care and work closely to coordinate our efforts with 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. Not only do we treat the tumor—we also provide care for all aspects of the eye and evaluation of proper development of the visual system.

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

Katherine A. Janeway, 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

Our research program offers unique access to clinical trials in which children can receive the newest treatments. A major focus of our research program is the rapid translation of scientific discoveries to the bedside to benefit patients. Through this research, our physicians work to improve therapeutic approaches and outcomes for children with ocular tumors.