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Diffuse Retinoblastoma

MedGen UID:
226854
•Concept ID:
C1266185
•
Neoplastic Process
Synonym: Retinoblastoma, diffuse
SNOMED CT: Retinoblastoma, diffuse (128793008)

Definition

A retinoblastoma characterized by the absence of a distinct retinal mass and the presence of malignant cells diffusely infiltrating the retina. It is often confused with uveitis and endophthalmitis, resulting in delayed diagnosis of the malignancy. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDiffuse Retinoblastoma

Professional guidelines

PubMed

Hydrogel implants for transscleral drug delivery for retinoblastoma treatment.
Cocarta AI, Hobzova R, Sirc J, Cerna T, Hrabeta J, Svojgr K, Pochop P, Kodetova M, Jedelska J, Bakowsky U, Uhlik J
Mater Sci Eng C Mater Biol Appl 2019 Oct;103:109799. Epub 2019 May 27 doi: 10.1016/j.msec.2019.109799. PMID: 31349439
Intraocular astrocytoma and its differential diagnosis.
Pusateri A, Margo CE
Arch Pathol Lab Med 2014 Sep;138(9):1250-4. doi: 10.5858/arpa.2013-0448-RS. PMID: 25171711
Current treatment of retinoblastoma.
De Potter P
Curr Opin Ophthalmol 2002 Oct;13(5):331-6. doi: 10.1097/00055735-200210000-00007. PMID: 12218465

Recent clinical studies

Etiology

Recurrence of retinoblastoma 12 years after brachytherapy.
Goto H, Kousaka A, Takano S, Usui M
Am J Ophthalmol 2002 Nov;134(5):773-5. doi: 10.1016/s0002-9394(02)01693-8. PMID: 12429261
Diffuse anterior retinoblastoma.
Grossniklaus HE, Dhaliwal RS, Martin DF
Retina 1998;18(3):238-41. doi: 10.1097/00006982-199803000-00008. PMID: 9654415

Diagnosis

Fluorescein angiography findings in diffuse retinoblastoma: two case reports with clinicopathologic correlation.
Fernandez MP, Al-Holou SN, Fischer O, Murray T, Harbour JW, Dubovy SR, Berrocal AM
J AAPOS 2017 Aug;21(4):337-339.e2. Epub 2017 Jul 8 doi: 10.1016/j.jaapos.2017.03.013. PMID: 28694215
Intraoperative spectral-domain optical coherence tomography in coats' disease.
Henry CR, Berrocal AM, Hess DJ, Murray TG
Ophthalmic Surg Lasers Imaging 2012 Jul 26;43 Online:e80-4. doi: 10.3928/15428877-20120719-01. PMID: 22827477
Neoplasm mimics of rheumatologic presentations: sialadenitis, ocular masquerade syndromes, retroperitoneal fibrosis, and regional pain syndromes.
Lipton S, Schwab P
Rheum Dis Clin North Am 2011 Nov;37(4):623-37. Epub 2011 Oct 24 doi: 10.1016/j.rdc.2011.09.004. PMID: 22075201
Retinoblastoma in an eye with features of Coats' disease.
Shields CL, Uysal Y, Benevides R, Eagle RC Jr, Malloy B, Shields JA
J Pediatr Ophthalmol Strabismus 2006 Sep-Oct;43(5):313-5. doi: 10.3928/01913913-20060901-08. PMID: 17022167
Use of microdissection and molecular genetics in the pathologic diagnosis of retinoblastoma.
Whitcup SM, Park WS, Gasch AT, Eagle RC, Filie AC, Nussenblatt RB, Zhuang Z, Chan CC
Retina 1999;19(4):318-24. doi: 10.1097/00006982-199907000-00009. PMID: 10458298

Therapy

Intraoperative spectral-domain optical coherence tomography in coats' disease.
Henry CR, Berrocal AM, Hess DJ, Murray TG
Ophthalmic Surg Lasers Imaging 2012 Jul 26;43 Online:e80-4. doi: 10.3928/15428877-20120719-01. PMID: 22827477
Uveitis masquerade syndromes: diffuse retinoblastoma in an older child.
All-Ericsson C, Economou MA, Landau I, Träisk F, Seregard S
Acta Ophthalmol Scand 2007 Aug;85(5):569-70. doi: 10.1111/j.1600-0420.2006.00818.x. PMID: 17655613
Recurrence of retinoblastoma 12 years after brachytherapy.
Goto H, Kousaka A, Takano S, Usui M
Am J Ophthalmol 2002 Nov;134(5):773-5. doi: 10.1016/s0002-9394(02)01693-8. PMID: 12429261

Prognosis

Intraoperative spectral-domain optical coherence tomography in coats' disease.
Henry CR, Berrocal AM, Hess DJ, Murray TG
Ophthalmic Surg Lasers Imaging 2012 Jul 26;43 Online:e80-4. doi: 10.3928/15428877-20120719-01. PMID: 22827477
Recurrence of retinoblastoma 12 years after brachytherapy.
Goto H, Kousaka A, Takano S, Usui M
Am J Ophthalmol 2002 Nov;134(5):773-5. doi: 10.1016/s0002-9394(02)01693-8. PMID: 12429261
Diffuse anterior retinoblastoma.
Grossniklaus HE, Dhaliwal RS, Martin DF
Retina 1998;18(3):238-41. doi: 10.1097/00006982-199803000-00008. PMID: 9654415

Clinical prediction guides

Fluorescein angiography findings in diffuse retinoblastoma: two case reports with clinicopathologic correlation.
Fernandez MP, Al-Holou SN, Fischer O, Murray T, Harbour JW, Dubovy SR, Berrocal AM
J AAPOS 2017 Aug;21(4):337-339.e2. Epub 2017 Jul 8 doi: 10.1016/j.jaapos.2017.03.013. PMID: 28694215

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