Phenotypic variability of retinocytomas: preregression and postregression growth patterns

Abouzeid, Hana; Balmer, Aubin; Moulin, Alexandre; Mataftsi, Asimina; Zografos, Léonidas; Munier, Francis L.

doi:10.1136/bjophthalmol-2011-300896

Cited by 23 publications

(22 citation statements)

References 19 publications

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“…[121314] It carries RB1 gene mutation causing genome instability making it premalignant lesion[1215] that requires close observation due to the risk of malignant transformation to retinoblastoma, and genetic testing and counseling is needed if available. Retinoma was observed in 1.8-15.6% of patients with retinoblastoma.…”

Section: Discussionmentioning

confidence: 99%

Resistant retinoblastoma in a 23-year-old patient

et al. 2014

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Retinoblastoma is a very rare disease in adults. We are reporting a rare case of resistant retinoblastoma in 23-year-old patient. A 23-year-old male patient presented with loss of vision in the right eye over one-month duration. Examination showed an epiretinal membrane in the right macula in addition to a white mass located inferiorly and associated with vitreous seeds. The diagnosis of retinoblastoma was established. In order to save the patient's life and to preserve the eye and vision, he was treated with chemotherapy, focal therapy, and radioactive Iodine125 plaque therapy. The tumor was resistant for treatment and recurred two years after plaque therapy, and enucleation showed well-differentiated retinoblastoma. Retinoblastoma may present in adults, and it was resistant to both chemotherapy and plaque radiation therapy in our case.

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Section: Discussionmentioning

confidence: 99%

Resistant retinoblastoma in a 23-year-old patient

et al. 2014

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“…Retinocytomas appear as gray translucent tumors with intralesional calcification, surrounding retinal pigment epithelium alterations, and intralesional cysts. [8] Our case had smaller lesions than what is typically seen with retinocytoma and did not have the characteristic features of that lesion. Unifocal helioid choroiditis (solitary idiopathic choroiditis) also presents with a yellow-white circumscribed lesion in the posterior pole.…”

Section: Discussionmentioning

confidence: 63%

Association of bilateral, multiple presumed retinal astrocytic proliferations with combined hamartoma of retina and retinal pigment epithelium in a 9-year-old male child with neurofibromatosis type 2

Rishi

Hirawat

Verma

2016

Indian J Ophthalmol

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Neurofibromatosis type 2 (NF-2) is characterized by multifocal proliferation of neural crest-derived cells. The characteristics finding of NF-2 is bilateral vestibular schwannomas. Combined hamartoma of retina and retinal epithelium (CHRRPE) is another associated finding. A 9 year-old-male child presented with left eye decreased vision for 3 months. Visual acuity was 0.0 and 0.8 LogMAR in the right and left eye, respectively. Left fundus showed an elevated, pigmented lesion with surface wrinkling and vascular tortuosity suggestive of CHRRPE with multiple presumed retinal astrocytic proliferations in mid-periphery. He had multiple café-au-lait spots. Optical coherence tomography confirmed clinical findings. Magnetic resonance imaging brain showed bilateral acoustic neuroma. Recognition of this rare finding as presenting feature of NF-2 can lead to earlier diagnosis which is vital to appropriate surveillance and possible surgical intervention. It is recommended that children with CHRRPE be screened for NF-2.

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“…The term 'retinoma' was first introduced in the literature by Gallie and colleagues (Gallie et al 1982) based on the observations of 30 patients. It appears identical to regressed tumours post-EBRT or chemoreduction except that no treatment needs to be applied (Abouzeid et al 2012).…”

Section: Introductionmentioning

confidence: 82%

“…It appears identical to regressed tumours post‐EBRT or chemoreduction except that no treatment needs to be applied (Abouzeid et al. ).…”

Section: Introductionmentioning

confidence: 89%

Optical coherence tomography (OCT) to image active and inactive retinoblastomas as well as retinomas

Nadiarnykh

McNeill-Badalova

Gaillard

et al. 2019

Acta Ophthalmologica

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Purpose To illustrate Optical Coherence Tomography (OCT) images of active and inactive retinoblastoma (Rb) tumours. Methods Current observational study included patients diagnosed with retinoblastoma and retinoma who were presented at Amsterdam UMC and Jules‐Gonin Eye Hospital, between November 2010 and October 2017. Patients aged between 0 and 4 years were imaged under general anaesthesia with handheld OCT in supine position. Patients older than 4 years were imaged with the conventional OCT (Heidelberg Engineering, Heidelberg Spectralis, Germany). All patients included were divided into two groups: active and inactive tumours (retinoma and regression patterns). Patients’ medical records and OCT images were analysed during meetings via discussions by ophthalmologists and physicists. Results Twelve Dutch and 8 Swiss patients were divided into two groups: 2 patients with active tumour versus 18 patients with inactive tumour. Subsequently, inactive group could be divided in two groups, which consisted of 10 patients with retinoma and 8 patients with different regression pattern types. Of all included patients, 15 were male (75%). Median age at diagnosis was 18.0 months (range 0.19–715.2 months). A total of 12 retinoblastoma (active and inactive) and 8 retinoma foci were investigated by OCT. No distinction could be made between active and inactive tumours using only OCT. Conclusion Optical coherence tomography alone cannot distinguish between active and inactive Rbs. However, handheld OCT adds useful information to the established imaging techniques in the monitoring and follow‐up of retinoblastoma patients. With this study, we provide an overview of OCT images of active and inactive Rbs.

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Phenotypic variability of retinocytomas: preregression and postregression growth patterns

Cited by 23 publications

References 19 publications

Resistant retinoblastoma in a 23-year-old patient

Resistant retinoblastoma in a 23-year-old patient

Association of bilateral, multiple presumed retinal astrocytic proliferations with combined hamartoma of retina and retinal pigment epithelium in a 9-year-old male child with neurofibromatosis type 2

Optical coherence tomography (OCT) to image active and inactive retinoblastomas as well as retinomas

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