**Acknowledgements**

*Retinoblastoma - Past, Present and Future*

*2.6.3.6 Imaging for retinoblastoma*

eye wall, and anterior segment lesions.

covered in other portions of this text.

*2.6.3.7 Genetic counseling*

**3. Conclusion**

the ERG readings thus confounding results [23].

informative prior to the physical examination portion of the exam [22]. One must be cautious to not manipulate the eyes before obtaining the ERG, as ocular manipulation including scleral depression, photography, and ophthalmoscopy can affect

Historically computerized tomography (CT) scans were used to evaluate patients ocular, orbital, optic nerve, and brain involvement from the tumor, since CT detection of calcifications in retinoblastoma have a sensitivity of 81–96% and an even higher specificity [24]. Magnetic resonance imaging (MRI) however is currently considered to be of higher accuracy and value due to its superior soft-tissue contrast for determining extent of tumor into orbit, optic nerve, and for evaluation of the presence of pinealoblastoma in trilateral disease. CT scanning is also felt to unnecessarily increase patient exposure to ionizing radiation with limited diagnostic value now that MRI is available. MRI of the brain and orbits with and without contrast is now ordered routinely on all patients with retinoblastoma at the time of diagnosis. The general practice among groups in the United States is to repeat imaging every 6–12 months for germline cases until the age of 5–6 years old to screen to pineal tumors. Transaxial or sagittal T1-weighted images will reveal an RB tumor which is slightly hyperintense with respect to the vitreous body. Transaxial or sagittal heavily T2-weighted imaging provides a low signal intensity of retinoblastoma and is helpful for detecting retinal detachment. Transaxial and sagittal oblique contrast enhanced T11 weighted spin echo provides information of the enhancement of retinal, invasive optic nerve, invasive

After all of the steps outlined in this chapter are followed, and a diagnosis of retinoblastoma is made, the clinician can hold a discussion with the family regarding therapeutic options and the genetic counseling needed for the patient and their loved ones. A treatment plan can be devised and initiated, but is outside the scope

Accurate and consistent diagnosis of retinoblastoma, and it's simulating lesions begin with the initial consult. This involves a systematic approach starting with a detailed history and high level of suspicion for patients presenting with leukocoria, decreased vision, strabismus, periorbital swelling, or dysmorphic facial features. Initial examination should involve a detailed dilated fundus exam with ophthalmic ultrasound, which will either push the clinician towards or away from the diagnosis of retinoblastoma. Any suspicion should warrant an examination under anesthesia as outlined above to obtain all of the information needed for an accurate diagnosis. The examination under anesthesia should follow a consistent, careful, and repeatable fashion as described earlier in the chapter. The techniques above, if followed, should aid the clinician in consistent diagnosis of retinoblastoma and its simulating lesions. Once diagnosed, appropriate brain and body imaging, and referral for genetic counseling should be performed. Treatment of this rare condition, along with survival and preservation of the eye is continuing to improve and will be

of this chapter, and will be covered in other portions of this text.

**36**

The authors would like to thank David McMahon for his assistance in obtaining many of the photographs used in this chapter.
