Retinoblastoma : Presentation, Diagnosis, Treatment, Complications
Diagnosis is often established by clinical examination using ophthalmoscope, after dilating the pupils. This often needs a short general anaesthesia since majority of the patients are below 5 years of age. Examination under anaesthesia (EUA) is very important since it enables proper documentation of the mass as regards to site, size, number, and helps to classify the tumor . This in turn helps to plan treatment and prognosticate the disease in terms of vision salvage, eye salvage and survival. A, B-scan ultrasound is performed and presence of intraocular calcifications generally confirms the diagnosis.
Photodocumentation and diagrams are also important as they help to assess response to therapy on subsequent visits.

Figure 2: Retinal Photograph of Left eye Retinoblastoma

MRI of the orbit and brain helps to assess extra ocular, optic nerve and intracranial involvement, if any.
In case there is a suspicion that the tumor has spread beyond the eye, then bone marrow aspiration and CSF tap may be performed.
Genetic testing , whenever available, is strongly recommended for every case of retinoblastoma , and more so for bilateral cases , which are more likely to be hereditary . This can be done using blood sample+/- tumor tissue

Differential Diagnosis
A painless decreased vision with a white reflex must arouse suspicion of retinoblastoma. However , the closest differential is Coats's disease. This comprises of congenital retinal telangectasias, that exudate fluid and cholesterol causing retinal detachment with a yellowish -white tumor like appearance. Other differentials include cataract ,retinopathy of prematurity, persistant hyperplastic primary vitreous, toxocara granuloma, congenital coloboma, medullated nerve fibers, chronic endophthalmitis due to infection or trauma.

Contributor Information and Disclosures

Himika Gupta
M.S., DNB.

First Created : 5/7/2015


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