Intraocular tumours

These are rare in childhood. Benign tumours are more common and include hamartoma (a benign tumour of the retina) seen in conditions like Neurofibromatosis (a genetic disease causing multiple soft tumours under the skin). Malignant tumours include retinoblastoma and leukaemia involving the eye.

Retinoblastoma

Retinoblastoma is the commonest intraocular tumour in children but it is still very rare. About half of affected children develop the disease due to inheritance of the retinoblastoma gene (RB1) and the tumours may be bilateral, but those who do not have the retinoblastoma gene have unilateral tumours. Most children present with a squint or an abnormal pupil reflex which is obvious to the parents. The red reflex test (a luminous red appearance seen upon the retina during retinoscopy examination) at birth and in subsequent early checks in primary care is mandatory for detection of retinoblastoma. Less commonly children present with a painful red eye or proptosis (protrusion of the eye). In most cases of unilateral retinoblastoma the tumour is advanced and enucleation (removal) of the eye is required. In children with bilateral retinoblastoma, one eye will usually have a large tumour that requires enucleation but the other usually has smaller tumours that may respond to other treatments, such as chemotherapy, radiotherapy, laser or cryotherapy, enucleation only being required if the tumour recurs afterwards.