Clin Pediatr Hematol Oncol.  2015 Apr;22(1):38-47. 10.15264/cpho.2015.22.1.38.

Diagnosis & Treatment of Retinoblastoma: Current Review

• Chueh H

• KMID: 2168918
• DOI: http://doi.org/10.15264/cpho.2015.22.1.38

Abstract

Retinoblastoma is a rare disease, but most common tumor which arises in eye. It can affect one or both eyes, and the main pathophysiology is explained by the "Two-hit theory" - the germline mutation of the RB1 gene. Most common clinical symptoms are leuocoria, strabismus, poor visual tracking, glaucoma, and orbital cellulitis. Diagnosis is made by ophthalmologist through fundoscopic examination; Examination under General Anesthesia (EUA) is recommended until the age 3. Orbital CT and MRI can detect the tumor invasion on optic nerve, central nervous system. CSF studies, examination of bone is helpful if the distant metastasis is suspected. Biopsy is rarely done unless in the case of enucleation. Enucleated eye should be explored for the invasion to the optic nerve, choroid, anterior chamber, iris and pupil. Treatment strategies can be different according to the disease status. If the single eye is involved, the treatment goal will be the removal of tumor and prevention of relapse. Local therapies include cryotherapy, laser photocoagulation, thermotherapy can be the choice, and if the tumor is too large for the local therapy, enucleation should be concerned. Nowadays, chemo-reduction combined with local therapy, intra-arterial and intravitreous chemotherapeutic agent injections are studied to avoid enucleation. In bilateral retinoblastoma, multidisciplinary treatments include chemoreduction, external beam radiotherapy, local therapy and other experimental therapies are needed: like intra-arterial injection, intra-vitreal injection, and high-dose chemotherapy with autologous stem cell transplantation. Early detection of retinoblastoma is important to save the vision and eyeball.

Keyword

Retinoblastoma; Chemotherapy; Injections; Intra-arterial; Intravitreal injection; Eye enucleation

MeSH Terms

Anesthesia, General
Anterior Chamber
Biopsy
Central Nervous System
Choroid
Cryotherapy
Diagnosis*
Drug Therapy
Eye Enucleation
Germ-Line Mutation
Glaucoma
Hyperthermia, Induced
Injections, Intra-Arterial
Intravitreal Injections
Iris
Light Coagulation
Magnetic Resonance Imaging
Neoplasm Metastasis
Optic Nerve
Orbit
Orbital Cellulitis
Pupil
Radiotherapy
Rare Diseases
Recurrence
Retinoblastoma*
Stem Cell Transplantation
Strabismus
Therapies, Investigational