Retinoblastoma

Retinoblastoma
SYMPTOMS Leukocoria, Eye turn, Loss of vision, Eye pain
SIGNS Typically unilateral (60% of the time)
Leukocoria, Strabismus, Rubeosis iridis, Pseudohypopyon, Hyphema, Solid and elevated white retinal tumor with angiomatous dilatation of vessels and calcificiations, Exudative retinal detachment, Vitreous haze
WORK-UP Pupils (typically unilateral leukocoria), EOMs, Cover test, Ptosis evaluation, Exophthalmometry, Full eye exam with dilation, Fluorescein Angiography, Fundus photos, B-scan ultrasound
TREATMENT Refer to a Pediatric ophthalmologist or Ocular oncologist or Retinal specialist STAT for treatment
FOLLOW-UP Once the retinoblastoma is treated by an ocular oncologist/pediatric ophthalmologist/retinal specialist and the eye is stable, the patient should be seen back in 3-4 months for the first visit followed by every 4-6 months
ADDITIONAL LAB | TESTS CT or MRI with and without contrast of the orbit and brain, Lumbar puncture, Bone marrow biopsy, CBC with differential, Genetic testing: RB1 (most likely will be ordered by the ocular oncologist or pediatric ophthalmologist or retinal specialist)
ETIOLOGY Retinal tumor caused by mutations to the RB1 gene. Mutations can be either germline or somatic
DIFFERENTIAL DX Ocular toxocariasis, Coats disease, Retinopathy of prematurity, Retinal astrocytoma
NOTES Retinoblastomas are the most common intraocular malignancy in a child (typically occurs before the age of 2 years old)
The mortality rate is within 2 years if left untreated
Germline mutations are more likely to cause bilateral retinoblastomas, multifocal tumors, secondary tumors, and are associated with an increased risk of inheritance to the patient’s offspring
Most bilateral retinoblastomas are hereditary and most unilateral retinoblastomas are sporadic
Posted in Ocular Conditions, Pediatrics