History and exam

Key diagnostic factors

common

age <3 years

90% patients with retinoblastoma are under 3 years of age at time of diagnosis.[3][50]

leukocoria (white pupillary reflex)

This is the most common clinical presentation and is usually seen in advanced disease.[8]​​[Figure caption and citation for the preceding image starts]: Leukocoria (white pupillary light reflex) in the left eye of a patient with unilateral retinoblastomaPersonal collection of Dr Timothy Murray [Citation ends].com.bmj.content.model.Caption@65a53078

strabismus

The second most common clinical presentation.[9]​

uncommon

positive family history

There is a positive family history of retinoblastoma in 10% of patients.[23][25]

orbital pseudocellulitis

A relatively common clinical presentation.[12]​

13q syndrome

Children who have a large deletion on the long arm of chromosome 13 present with retinoblastoma as well as other characteristic features that may include mental and growth retardation; craniofacial dysmorphisms; hand and foot anomalies; and defects of the brain, heart, and kidneys.[15]

Other diagnostic factors

uncommon

visual disturbances

Occurs more commonly in bilateral cases or due to glaucoma.[13]​

ocular pain

Uncommon symptom.

pinealoma

Can occur in conjunction with bilateral retinoblastomas in a condition termed trilateral retinoblastoma.[14]​ It occurs in patients with a germinal mutation.​

Risk factors

strong

mutation in RB1 gene

A mutation in both alleles of the RB1 gene is widely believed to be a prerequisite for the presence of disease. Other mutations are likely necessary for progression to clinical retinoblastoma.[23]

Only 10% of patients have a previously established family history of the disease.[23]​[25]​

The majority of cases occur as a result of spontaneous mutations either early in embryogenesis or de novo in one set of parental germline cells.[25]

weak

human papillomavirus (HPV) exposure

HPV types 16 and 18 have been reported in retinoblastoma samples.[26][27]​

Further research is required to determine whether there is a significant association between HPV and retinoblastoma.[28]​[29]​

advanced paternal age

There is evidence that mutations of RB1 are more common during spermatogenesis than oogenesis.[30] Clinical studies examining the relative risk of patients with sporadic germinal disease with fathers older than 50 years have demonstrated mixed results.[31][32][33]​[34]​

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