5 yr child with Rt Convergent Squint & Axial Proptosis.US shows intraconal mass.

1.D/D of intraconal mass2.D/D of leucocoria

3.U/S & CT findings of RB4.How will you manage that case.

D/D of intraconal mass

• Optic nerve glioma– In children,slow growing fusiform enlargement

• Optic nerve sheath meningioma– In middle age,tubular growth on CT

• Cavernous hemangioma– In middle age well encapsulated benign tumors

• Lymphangioma– Children and young adults,poorly defined margins

• Schwanoma• Retinoblastoma • Orbital metastasis• Lymphomas

D/D of leucocoria

• Congenital cataract• Retinoblastoma• Coats Dx• PHPV• ROP• RD

• Toxoplasmosis • Toxocariasis

Retinoblastoma • Computed tomography• Cranial and orbital computerized tomography provides a

sensitive method for diagnosis and detecting intraocular calcification and shows intraocular extent of the tumor even in the absence of calcification . This neuroimaging technique is also invaluable in assessing the CNS anatomy, including the optic nerve, for possible extension of retinoblastoma

• Ultrasonography• Ultrasonography is useful in distinguishing retinoblastomas

from non-neoplastic conditions(coats dx). It is also useful in detecting calcifications.

• Retinoblastoma is diagnosed in patients at an average of 18 months, with 90% of cases diagnosed in patients younger than 5 years.

• Children who are affected bilaterally are diagnosed at an average age of 13 months, while patients with unilateral retinoblastoma are diagnosed at an average age of 24 months.

• When a known family history of retinoblastoma exists, patients with bilateral retinoblastoma are diagnosed at an average age of 11 months.

• A few cases of retinoblastoma in adults (aged 20 y and older) have been reported in the literature. Some theorize that these lesions arise from a previously existing retinocytoma that underwent malignant transformation

History

• At the time of initial examination, obtain a careful family history.• Specifically ask parents about the occurrence of retinoblastoma

in the family.• Elicit a history of eye tumors, previous enucleation, or any

malignancy in childhood in any of the family members.• Only about 5-10% of patients who develop this disease have a

positive family history.• A large number of patients with retinoblastoma (90-95%) have

no previous family history, including those who have the bilateral hereditary form of the disease

presentation

• Leucocoria• Strabismus • Glaucoma • Orbital cellulitis• RD• Proptosis • Ptosis • Uveitis

• Blood counts and electrolyte determination as well as urinalysis and liver function tests are useful in excluding other conditions confused with retinoblastoma.

• Blood specimens should be taken not only from the patient but also from the parents and any siblings for DNA analysis, which could aid in genetic counseling.

• Sources of DNA to be evaluated directly are either from tumor cells or leukocytes

– Deletions or rearrangements of the retinoblastoma gene can be detected by either karyotyping or Southern blotting techniques.

– Point mutations in the retinoblastoma gene can be detected by the following techniques: ribonuclease protection, denaturing gradient gel electrophoresis, single-strand conformation polymorphism, or direct DNA sequencing amplified by the polymerase chain reaction.

• Lactate dehydrogenase (LDH) is a glycolytic enzyme that uses glucose as an energy source. It is present in high concentrations within metabolically active cells. Normally, its concentration in serum and aqueous humor is low and the ratio of aqueous humor to serum LDH is less than 1.0 in patients with ocular disease other than retinoblastoma. However, aqueous humor for eyes with retinoblastoma exhibits increased LDH activity expressed as an aqueous humor/LDH ratio of greater than 1.0.

Treatment

• Tumor 3mm in dm and 2 mm thick– Laser– Cryo – Chemo

• 12mm wide and 6mm thick– Brachytherapy – Chemo – External beam radiation

Tx of large tumors

• Chemo to shrink• Enucleation – Rubeosis– Vitreous seeding and haemorrhage– Optic nerve invasion– Diffuse tumor– Poor vision

Tx of extraocular extension

• Adjuvent chemotherapy– 6 month CEV after enucleation if retrolaminar or

choroidal spread• External beam radiotherapy– Tumor extension to the cut end of optic nerve on

enucleation– Extension thru sclera