Case history
Case history
A mother takes her 3-year-old child to the paediatrician complaining that the child's right eye looks strange and appears different from the left eye. The paediatrician notes that the right pupil has a white haze and looks rather unusual. They refer the child to a paediatric ophthalmologist who notes an asymmetric red reflex and total retinal detachment in the right eye. The paediatric ophthalmologist in turn refers the patient to an ocular oncologist with the referring diagnosis of retinal detachment versus retinoblastoma. On examination, the ocular oncologist discovers that the right eye is full of tumour with vitreous and subretinal seeding and an overlying total retinal detachment. The left eye is unaffected with no evidence of any retinoblastoma foci.
Other presentations
The most frequent presenting sign is leukocoria, a white pupillary reflex.[8] Other presentations include: strabismus (crossed or deviating eyes), decreased vision, orbital pseudocellulitis, retinal detachment, glaucoma, hypopyon (tumour cells anterior to the iris), and ocular pain.[9][10][11][12][13]
Occasionally, bilateral retinoblastomas occur with a concomitant pineal primitive neuroectodermal tumour (pinealoma), a condition termed trilateral retinoblastoma.[14] Rarely, it presents in conjunction with other paediatric ophthalmic conditions such as morning glory syndrome (a congenital defect in which there is a cleft in the optic disc) or retinopathy of prematurity. Children with 13q syndrome may present with features of retinoblastoma in addition to other characteristic systemic features such as: mental and growth retardation; cranio-facial dysmorphisms; hand and foot anomalies; and defects of the brain, heart, and kidneys.[15] Although most retinoblastomas present in children under 3 years of age, cases have been reported in children aged 7 years or older.[3] Retinoblastoma can sometimes be detected in utero using ultrasound or may be identified shortly after birth, particularly if there is a known family history of the condition.
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