retinoblastoom

Retinoblastoom is a common misspelling of retinoblastoma, a malignant tumor of the retina that most often affects young children. In medical contexts, the correct term is retinoblastoma.

Causes and genetics: Most cases arise from inactivation of the RB1 tumor suppressor gene on chromosome 13q14. A germline RB1 mutation predisposes to bilateral disease and to other tumors, whereas unilateral cases usually result from somatic RB1 mutations in retinal cells. Genetic testing and counseling are important for affected families.

Clinical features: The most frequent presenting signs are leukocoria (a white reflex in one or both eyes) and strabismus. Less common symptoms include a red or painful eye, decreased vision, or a visible intraocular mass on examination.

Diagnosis: Diagnosis is based on an ophthalmologic examination, supported by imaging. B-scan ultrasound can reveal intraocular calcifications within the tumor. MRI or CT helps assess involvement of the optic nerve and surrounding structures. Genetic testing for RB1 is used for counseling and family member surveillance.

Treatment and prognosis: Management depends on disease extent and laterality. Unilateral, advanced disease may require enucleation. For other cases, chemoreduction to shrink the tumor followed by focal therapies (laser photocoagulation, cryotherapy, or transpupillary thermotherapy) or radiotherapy may be used. Modern multimodal therapy provides high cure rates and aims to preserve the eye and vision when possible. In germline RB1 carriers, there is an elevated risk of second primary malignancies, necessitating long-term follow-up and surveillance.

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