Presentation on theme: "TA OGUNLESI (FWACP)1 RETINOBLASTOMA. 2 RETINOBLASTOMA It is the most common primary ocular malignancy of childhood. It formed 15% of all childhood cancers."— Presentation transcript:
2 RETINOBLASTOMA It is the most common primary ocular malignancy of childhood. It formed 15% of all childhood cancers in Enugu (1999 – 2004) It is caused by the retinoblastoma gene, which is a mutation in the long arm of chromosome 13. A positive family history is present in 5- 10% of children who develop this disease.
TA OGUNLESI (FWACP)3 The true hereditary form is inherited in an autosomal dominant fashion but with variable penetrance. Hereditary form affects both eyes Sporadic cases are also known
TA OGUNLESI (FWACP)4 Often diagnosed in infancy 1/3 cases are bilateral Hereditary in 40% and Non-hereditary in 60% Non-hereditary forms are UNILATERAL Hereditary forms: 1/3 are unilateral while 2/3 are bilateral
TA OGUNLESI (FWACP)5 EPIDEMIOLOGY Race: No difference in incidence exists among blacks and whites. Sex: No remarkable sex predilection. Age: Retinoblastoma is diagnosed at an average of 18 months Bilateral - average age of 13 months Unilateral – average of 24 months.
TA OGUNLESI (FWACP)6 CLINICAL FEATURES Presentation is usually late in the developing world with huge fungating mass (proptosis) Usually identified by the parents but unfortunately at an advanced stage. Leukocoria (white pupillary reflex or cat's eye reflex) is the most common presenting sign. Strabismus (Squint) which occurs as a result of visual loss, is the second most common mode of presentation. Visual loss
TA OGUNLESI (FWACP)7 CLINICAL FEATURES Secondary changes in the eye include: Glaucoma Retinal detachment Inflammation secondary to tumor necrosis. Pseudouveitis, with a red eye and pain is a rare presentation.
TA OGUNLESI (FWACP)8 INVESTIGATIONS Orbital ultrasonography Cranial and orbital computerized tomography MRI X-ray studies: Intra-ocular Calcification Clinical Staging: I to V
TA OGUNLESI (FWACP)9 MANAGEMENT Early enucleation of the involved eye with removal of as much of the optic nerve as possible (prophylaxis) Irradiation must always follow surgery if the optic nerve is affected (risk of cataract) External beam radiotherapy Photocoagulation
TA OGUNLESI (FWACP)10 MANAGEMENT More extensive diseases (involving the bone marrow) requires chemotherapy with Vincristine and Cyclophosphamide It is a curable disease but has a high risk of secondary tumors.