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Changing trends in pseudoretinoblastoma diagnoses: A 10 year review from the United Kingdom

Badhwar, Vinay; Yeo, Damien CM; Joshi, Samruddhi; Clifton, Charlotte; Fraser, Maxine; Naeem, Zishan; Sagoo, Mandeep S; (2022) Changing trends in pseudoretinoblastoma diagnoses: A 10 year review from the United Kingdom. European Journal of Ophthalmology 10.1177/11206721221093190. (In press). Green open access

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Abstract

AIM:To study the different types and frequency of pseudoretinoblastoma (pseudoRB) lesions who present to a retinoblastoma centre due to concern that the condition may be retinoblastoma. METHODS: A retrospective chart review of 341 patients presenting sporadically to the Royal London Hospital from January 2009 to December 2018. RESULTS: 220 patients (65%) were confirmed to have retinoblastoma, while 121 (35%) had pseudoRB. There were 23 differential diagnoses in total. The top 3 differential diagnoses were Coats’ disease (34%), Persistent Foetal Vasculature (PFV) (17%) and Combined Hamartoma of Retina and Retinal Pigment Epithelium (CHR-RPE) (13%). PseudoRBs differed with age at presentation. Under the age of 1 (n = 42), the most likely pseudoRB conditions were PFV (36%), Coats’ disease (17%) and CHR-RPE (12%). These conditions were also the most common simulating conditions between the ages of 1 and 2 (n = 21), but Coats’ disease was the most common in this age group (52%), followed by CHR-RPE (19%) and PFV (14%). Between the ages of 2 and 5 (n = 32), Coats’ disease remained the most common (44%) pseudoRB lesion followed by CHR-RPE (13%), or PFV, Retinal Astrocytic Hamartoma (RAH), familial exudative vitreoretinopathy (FEVR) (all 6.3%). Over the age of 5 (n = 26), pseudoRBs were most likely to be Coats’ disease (35%), RAH (12%), Uveitis, CHR-RPE, FEVR (all 7.7%). CONCLUSION: 35% of suspected retinoblastoma cases are pseudoRB conditions. Overall, Coats’ disease is the most common pseudoRB condition, followed by PFV. Hamartomas (CHR-RPE & RAH) are more prevalent in this cohort, reflecting improvements in diagnostic accuracy from referring ophthalmologists.

Type: Article
Title: Changing trends in pseudoretinoblastoma diagnoses: A 10 year review from the United Kingdom
Location: United States
Open access status: An open access version is available from UCL Discovery
DOI: 10.1177/11206721221093190
Publisher version: https://doi.org/10.1177%2F11206721221093190
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher's terms and conditions.
Keywords: Tumour, retinoblastoma, pseudoretinoblastoma, Coats' disease, persistent fetal vasculature, combined hamartoma of retina and RPE
UCL classification: UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Ophthalmology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL
URI: https://discovery.ucl.ac.uk/id/eprint/10149387
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