For a child suspected of having retinoblastoma, it is important to examine the patient and family promptly upon referral, and the initial consultation may be performed in an office setting (Table 1.2, Box 1.1). The story of how and over what time course the condition was noted, the health care professionals that saw the patient, and what was done to the child before they arrived must be recorded. A birth history including the pre- and perinatal history is important. Typically the gestational age at birth, type of delivery, birth weight, and any delivery or pregnancy complications, including infections or medications taken during the pregnancy, are noted. It is also important to inquire if any abnormalities were noted on the eye screening exam after birth or if there were any unusual birthmarks or malformations. The current history should include the child’s health, any medical conditions, and environment including pets, recent trauma, or illness. For retinoblastoma suspects, the family history should include number of siblings, their health and ocular history, and any family medical disorders. It should be noted if there was any poor vision, blindness, or loss of an eye in the family. Both parents should be questioned about their ocular health and examined if no recent dilated exam has been preformed. A small subset of parents of children with RB will have evidence of retinoma/retinocytoma and even unknown treated retinoblastoma (Chap.​ 7) [4].

The initial examination of the child can be started in the office while taking the history, by observing the comfort and behavior of the child, and noting any size, proportion, or facial abnormalities (Table 1.3). It may be possible to observe leukocoria, strabismus, or periorbital swelling and visual behavior before initiating the formal examination. Assessing the vision is dependent on the age of the patient and the amount of cooperation; however, the condition of each eye should be assessed and recorded along with the pupillary response and the presence or absence of heterochromia of the irises. A brief observation of the periorbital tissues, cornea, conjunctiva, and sclera should be performed before administrating dilation drops. Using a direct ophthalmoscope, the pupillary light reflex can be noted in both eyes.

Upon completion of this portion of the examination, drops for pupillary dilation can then be administered (tropicamide 0.5 % and ophthalmic phenylephrine 2.5 %). It is worth emphasizing that both eyes should be examined in equal detail. The examination of the posterior pole is best done with an indirect ophthalmoscope. Depending on the age, the child may cooperate or parents may be needed to help secure the patient while lying supine on a table or chair (Fig. 1.2). Younger children can be swaddled with a blanket or sheet. The goal of the indirect examination at this point is to confirm the suspicion of retinoblastoma and determine whether further evaluation is necessary with an exam under anesthesia (EUA). It may be necessary to place an eyelid speculum in for proper visualization of the posterior pole; appropriate topical anesthesia such as ophthalmic proparacaine 0.5 % solution should be administered before placing the speculum. A detailed fundus examination with scleral depression may be performed with an anesthetic, eyelid speculum, and restraint; however, this is fairly traumatic for both the child and the family and is generally unnecessary if a planned exam under anesthesia is possible.

A limited ophthalmic ultrasonography can be done in A/B scan mode using a 10 MHz transducer to visualize the presence of a mass, calcification, retinal detachment, or abnormalities of the posterior pole. Intraocular calcification can be highlighted during the ultrasound in B scan mode by turning down the gain of the unit.