Retinoblastoma : Presentation, Diagnosis, Treatment, Complications
The most common presentation is the cat's eye reflex or leukocoria (55%); described as a glint or a white eye that the parents notice in photographs . However, the squinting of the eye may develop earlier to this and may be the presenting symptom in some cases (25%), hence, the importance of dilated fundus examination to all the children with squint . The Bruckners reflex using distant direct ophthalmoscopy is a quick and easy tool to pick up squint, shadows and altered retinal reflexes due to the tumour. Since this disease is painless and often occurs in pre verbal children who are unable to report a diminished vision, timely diagnosis greatly depends on the primary health care provider. The white reflex is obvious only once the tumour is large enough to fill greater than 2/3 of the eye.
Some cases may present with a painful red eye with swelling, redness and bulging of the eye (proptosis) . This may also indicate that the tumor is advanced and has spread outside the layers of the eyes into the bony orbit and carries worse prognosis. In case of intracranial extension, the disease may present with neurological signs and symptoms corresponding to the extent of the tumour.

Figure 1 : Retinoblastoma and possible routes of spread

Rarely, the child might have a bilateral retinoblastoma with a pineal gland tumor, the so called " trilateral retinoblastoma" .

Clinical Diagnosis
Retinoblastoma can be diagnosed clinically by examining the retina. It looks like a whitish mass arising from retina with calcifications which can be verified by B scan ultrasonography. There may be associated fluid, retinal detachment and vitreous seeds.
Atypical presentations, or " masquerades " include acute uveitis and hypopyon , secondary glaucoma( increased eye pressure) , chronic inflammation and endophthalmitis with apparently no etiology and painful proptosis resembling orbital cellulitis. High index of suspicion and repeated examinations are vital to diagnose such cases.

Contributor Information and Disclosures

Himika Gupta
M.S., DNB.

First Created : 5/7/2015


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