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  • Presenting and diagnostic signs of retinoblastoma

Presenting and diagnostic signs of retinoblastoma
Reviewed by Fiona Rowe

5 August 2022 | Fiona Rowe (Prof) | EYE - Paediatrics, EYE - Strabismus
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This study revisits the presenting signs of retinoblastoma (RB) in the context of current best practice with respect to diagnosis and assessment of RB. This was a retrospective review of 131 consecutive cases, excluding those with positive family history over 2009-2015. The study included 88 unilateral and 43 bilateral cases (131 patients: 174 eyes; 49.6% female). Median age at presentation was 16 and 10 months for unilateral and bilateral cases respectively. The most common examination findings were leukocoria only (56%), leukocoria with strabismus (18%), strabismus (13%) and periocular inflammation (8%). Five percent had other signs including iris colour change, proptosis, floaters, nystagmus and one incidental radiological findings of RB. Presenting signs were similar for unilateral and bilateral cases except for strabismus which was reported more in unilateral cases. Of 40 patients with strabismus, 25 were exotropia, nine esotropia and six variable strabismus. The fovea was affected by RB or its consequences in 130 eyes. Of 131 patients, 83 required enucleation as primary treatment. Limitations of this study include unreported visual acuity although this was difficult given the presenting age of patients. The study also did not capture delay or time to diagnosis. The authors conclude leukocoria, strabismus (particularly exotropia) and foveal involvement can occur at any time, are common and often co-exist. Orthoptist assessment is recommended to accurately detect and diagnose strabismus.

Strabismus as a presenting sign in retinoblastoma.
Kiernan M, Fabian ID, Smith V, et al.
JOURNAL OF PEDIATRIC OPHTHALMOLOGY AND STRABISMUS
2021;58:324-30.
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Fiona Rowe (Prof)
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Fiona Rowe (Prof)

Institute of Population Health, University of Liverpool, UK.

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