Fineman_Retina (Color Atlas and Synopsis of Clinical Ophthal

RETINOBLASTOMA 255

● Heterochromia iridis ● Spontaneous hyphema ● Extrascleral extension ● Pinealoblastoma (trilateral Rb) Differential Diagnosis ● Leukocoria ● Coats disease

● MRI is crucial for assessment of extraocular extension or optic nerve involvement and identifying the presence of pinealoblastoma (trilateral disease). ● Fluorescein angiography reveals early arterial filling of the vessel feeding the tumor, leakage of dye from intrinsic tumor vessels, and late hyperfluorescence of the tumor. Prognosis and Management ● Spontaneous regression is rare and leads to phthisis bulbi. Typically, if untreated, chil dren die within 2 years of diagnosis. Early detection, coupled with improvements and promptness of treatment, has reduced the mortality rate to less than 10%. The main determinant for mortality is optic nerve inva sion. For this reason, it is imperative to obtain as long a section of optic nerve as possible during enucleation. ● Prognostic factors for failure to preserve vision or to preserve the eye are larger tumor size, vitreous seeding, and macular involvement. ● Children with germinal Rb have an increased risk of developing other primary malignancies over the course of their life times. These tumors include principally intracranial Rb, osteogenic sarcoma of the long bones, and sarcoma of soft tissues. The risk is estimated to be approximately 20% within 25 years of treatment. ● Children diagnosed with Rb should undergo evaluation for systemic involvement, including complete blood count, lumbar puncture, neuroimaging, and bone marrow biopsy. Genetic testing of the child and family members should be performed. ● Individual treatment varies according to number, size, and location of tumors, as well as systemic status. Therapeutic options include cryotherapy, laser photocoagula tion, plaque radiotherapy, thermotherapy, intravitreal chemotherapy, intra-arterial

● Persistent fetal vasculature syndrome (for merly termed persistent hyperplastic primary vitreous, or PHPV) ● Toxocariasis ● Retinopathy of prematurity ● Familial exudative vitreoretinopathy ● Retinal astrocytoma ● Cataract ● Retinocytoma/retinoma ● Choroidal granuloma

● Retinochoroidal anastomosis ● Retinochoroidal granuloma ● Norrie disease ● Incontinentia pigmenti ● Vitreous seeding ● Intraocular inflammation ● Endophthalmitis

● Vitreous hemorrhage ● Leukemic infiltration

Diagnostic Evaluation ● Detailed systemic evaluation and examina tion is required, as well as family history and ocular examination of parents, and complete examination of both eyes (often requiring anesthesia for complete visualization of the fundi with scleral depression). ● Ultrasonography: An elevated, rounded, intraocular mass is seen, with high internal reflectivity (calcification) and shadowing of sclera and soft tissue posterior to the lesion.

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