Diffuse infiltrating retinoblastoma
<<Hsi-Kung Kuo, MD., Linda Yi-Chieh Poon, MD., IHui Yang, MD., Shiu-Mei Huang, MD.>>
<<Kaohsiung Chang Gung Memorial Hospital,
Kaohsiung, Taiwan>>
Ocular and General History
 5 years old boy
 Unremarkable birth history (BBW:
2800g, full-term)
 No preceding trauma or ocular history
First Presentation
 Chief complaint:
 Whitish materials in the left eye for 4 days
 VA: 20/20 OD, 20/70 OS
 IOP: 17mmHg OD, 34mmHg OS
 Anterior segment OS:
 White iris nodules, pseudohypopyon, large
white KPs
 Fundus OS:
 Snowballs + snowbanking vit. opacity
Investigations - Lab
 Complete blood count: negative
 CRP/ESR: negative
 Serology: negative
 Syphilis, mycoplasma, toxoplasma,
CMV, HSV, EBV
 Autoimmune markers: negative
 ANA, RF, anti-dsDNA, HLA-B27
Investigation - Image
 Chest x-ray: normal
 B-scan
 Presence of vitreous opacity
 No mass or calcification
 Orbital CT scan
 Fusiform soft tissue density at inferior region
of globe
 No calcification
Probable differential diagnosis
 Granulomatous panuveitis OS,
complicated with IOP elevation
 nature?
Treatment
 Empirical treatment
 Topical steroid (prednisolone acetate
1% oph susp QID)
 Antiglaucoma medication (dorzolamide
2% oph susp BID)
 Long-acting cycloplegics (atropine
0.5% eye drops BID)
Second presentation: 4 weeks later
 Persistant elevation in IOP: 37mmHg OS
 Increase in pseudohypopyon
 Mild decrease in iris nodules and keratic
precipitates
Revised differential diagnosis
 Masquerade syndrome,
retinoblastoma highly suspected
Consequences
 Direct enucleation of left eye without fine
needle aspiration biopsy
 Histopathological diagnosis:
 poorly differentiated retinoblastoma with
tumor invasion involving retina, choroid,
sclera, ciliary body, trabecular meshwork, iris,
corneal endothelium
HE stain, 400X
sclera
TM
Ciliary
body
iris
HE stain, 40X
iris
lens
HE stain, 40X
HE stain, 100X
Optic nerve
Corneal endothelium
HE stain, 40X
Final Diagnosis
 Diffuse infiltrating retinoblastoma OS
 An atypical presentation of retinoblastoma
 Lack of discrete retinal mass or calcification
 Extensive seeding of tumor cells into
vitreous and anterior chamber producing an
inflammatory appearance mimicking uveitis
 Patient presented at an older age than the
typical retinoblastoma patients
Conclusion
 Retinoblastoma can present in a diffuse
infiltrating pattern in rare cases
 Keep this differential diagnosis when
encountering pediatric patients presenting with an
atypical uveitis