Koch Ocular Abnormalities ASHNR 2016 25 Minutes Syllabus 9.8.16
Disclosures Ocular Abnormalities • No financial disclosure relative to this presentation
Bernadette L. Koch, M.D. Departments of Radiology and Pediatrics Cincinnati Children’s Hospital Medical Center University Hospital Cincinnati, Ohio
@CincyKidsRad facebook.com/CincyKidsRad
Objectives Clinical Presentation/Symptoms of Ocular Pathology • Review imaging characteristics of the most common (and some not so • Leukocoria • Diplopia common) ocular abnormalities in • Decreased vision • Strabismus children and adults • Abnormal size – • CN palsies
too small, too large • “Floaters” • Abnormal shape or • Glaucoma position • Hyphema • Heterochromia • Globe rupture
Imaging abnormalities in patients Ocular Detachments with ocular signs/symptoms • Potential space between hyaloid and retina • Ocular detachment • Ocular infection/ • Subretinal space between retinal layers ♦ Retinal inflammation ♦ Inner sensory ♦ Choroidal • Congenital anomalies ♦ Posterior hyaloid ♦ PHPV ♦ Outer retinal pigment epithelium (RPE) • Ocular masses ♦ Coloboma • Subarachnoid space between choroid and ♦ Calcified • Post-traumatic sclera ♦ Noncalcified ♦ Globe rupture ♦ Uvea = iris, ciliary body & choroid ♦ Globe foreign body • Frequently associated with primary ocular pathologies ! complicates the imaging findings Ocular Detachments Leukocoria = white pupillary reflex indicating ocular disease • Retinoblastoma • Retinal astrocytoma • Choroidal osteoma, mets, melanoma • Coat’s disease • Long standing retinal detachment Posterior hyaloid Retinal Choroidal • Cataract • Vitreous hemorrhage • Sclerosing endophthalmitis • PHPV – persistent hyperplastic primary vitreous • ROP – retinopathy of prematurity
Retinoblastoma Retinoblastoma • Most common intraocular malignancy children • Clinical ♦ Arises from neuroectodermal cells ♦ Leukocoria 60% • 1/20,000 live births; M=F ♦ Strabismus 20% • 300-350 new cases in US/year ♦ Uveitis, cellulitis, hyphema, heterochromia, glaucoma, buphthalmos • Average age at diagnosis 18 months, ♦ Undiagnosed late stage ! proptosis ♦ Majority present prior to 3 years of age • 95% calcified intraocular mass 60-90% sporadic • • CT good delineation of calcification • 10-40% have a family history ♦ SWI nearly as good, US best ♦ Most with germline RB1 mutation • MRI (inactivation of tumor suppressor gene at ♦ better evaluation for adjacent spread chromosomal locus 13q14) and intracranial disease
Retinoblastoma International Classification for Intraocular Retinoblastoma • 2/3 unilateral, 1/3 bilateral • Group A • Trilateral = bilateral globe + pineal < 3 mm in retina and not near optic disc or foveola (pineoblastoma) ♦ • Group B ♦ Or suprasellar ♦ > 3m mm in retina or < 3 mm close to optic disc /foveola • Pathology • Group C Well-defined tumors + small amts subretinal/vitreous seeding ♦ Flexner-Wintersteiner rosettes ♦ • Group D ● ring of cuboidal cells ♦ Large or poorly defined + widespread subretinal/vitreous surrounding central lucency seeding +/- retinal detachment ● Attempt at retinal • Group E Courtesy Beth Ey, M.D. differentiation ♦ Very large, extends near anterior globe, hemorrhage, glaucoma or other features of non-salvageable eye Retinoblastoma growth Retinoblastoma patterns
• Endophytic (45%) + vitreous seeding +/- retinal detachment
• Exophytic (45%) + retinal detachment & 3 wk old red sclera and eye drainage subretinal exudate • Mixed (10%) • Diffuse infiltrating form – rare, older children, may not have Ca++ DirectTrilateral extension Rbl ♦ May simulate inflammatory condition
Rbl additional findings Globe Prosthesis
• Anterior segment CE more aggressive behavior • CE of optic nerve sheath ♦ suspicious for, but not diagnostic of ON extension, especially if only mild CE Expected heterogeneous CE hydroxyapatite prosthesis
DDx Globe Calcification Other Ocular masses
• Medulloepithelioma • Retinal astrocytoma Phthisis bulbi & prosthesis • Melanoma • Metastasis TS Drusen • Hamartoma • Osteoma BB • Primary intraocular lymphoma Medulloepithelioma Retinal Astrocytoma • Rare, most common in first decade • Rare retinal tumor • Non-pigmented, vascular mass with • Tuberous sclerosis most common CE and some cystic elements • Enhancing, calcified mass +/- ocular • Arises from ciliary body detachments, hemorrhage
Ocular Melanoma • Most common primary ocular malignancy in adults • 5% of all melanomas • Uvea >>> conjunctiva ♦ Choroidal 90%, ciliary body 7%, iris 3% • Present with floaters, dec. periph. vision, frequent change in correction • Dome or mushroom shaped (choroidal) mass ♦ Hyperdense CT, hyperintense T1, hypointense T2, moderate CE ♦ Amelanotic hypointense T1 • +/- choroidal or retinal detachment
Ocular Metastasis Choroidal Hamartoma • Most common intraocular malignancy in adults • Congenital vascular • Breast and lung primaries most common hamartomata Presents in middle-age/elderly ♦ Also thyroid, renal cell carcinoma, • extraocular melanoma patient Isolated or part of Sturge-Weber ♦ 18% unknown primary • • Choroidal mass, CE • Solitary or diffuse ♦ hyperdense, intensely ♦ +/- ocular detachment enhancing ♦ Hyperintense T1/T2 Choroidal Osteoma Primary Intraocular Lymphoma (PIOL) • Benign ossifying tumor • High grade malignancy • Usually young women 20-30 yrs • B-cell, rarely T-cell • 76% unilateral • Retinal origin • Calcified mass in choroidal-retinal • DDx layer posterior globe ♦ Metastatic lymphoma ! uveal tract • T1 hyper, T2 hypo, intense CE ♦ MALT lymphoma ! choroid ● Mucosa-associated lymphoid tissue
Chorioretinal Inflammatory Toxocara Disease Endophthalmitis • Hypersentitiviy response and T-cell • Infectious – toxocariasis/other granulomas parasites, TB, syphilis, Lyme disease, bacterial, fungal ♦ larval nematode Toxocara cani (dog) or cati (cat) infection • Idiopathic orbital inflammation • Ocular lesions months to yrs. after ♦ orbital pseudotumor initial infection • Autoimmune disease • CE mass +/- retinal detachment, vitreous hyperdensity/intensity, calcification late stage phthsis bulbi
Idiopathic Orbital Inflammation Idiopathic Orbital Inflammation
• Nongranulomatous • Imaging types inflammation ♦ Focal mass = tumefactive ♦ ? etiology ♦ EOM enlarged = myositic • Painful proptosis ● involves tendinous insertions • Responsive to steroids ♦ Diffuse orbital inflammation Optic neuritis • 20% bilateral ♦ ♦ Sclera, uvea, lacrimal gland, • M = F mixed • IR most common ♦ Orbital apex/cavernous • 5-25% IgG4-RD sinus = Tolosa-Hunt syndrome
Coat’s disease 10 month old r/o diffuse • Congenital retinal telangiectasia infiltrative RBL ♦ exudative ophthalmopathy • M > F • 6 - 8 yrs most common • Leukocoria & decreased vision • 95% unilateral • Small or normal size globe • Noncalcified subretinal exudate and detachments Dense/hyperintense vitreous • Coat’s disease with massive retinal detachment
Persistent fetal vasculature Retinopathy of Prematurity Persistent hyperplastic primary vitreous PHPV • Vasoconstriction 2o to high • Embryonic hyaloid canal O2 & immature vessels ♦ Failure of regression • Active phase Leukocoria, blindness ♦ retinal ischemia, • neovascularity • Small (or normal size) globe • Regressive phase • “martini glass” retrolental tuft of CE ♦ Ret. detach. 85 – 95 % • +/- retinal detachment, • Bilateral cataract and glaucoma • Normal ! small • DDx – Norrie disease • Vitreous hemorrhage ♦ X-linked recessive ♦ bilateral PHPV
Coloboma Coloboma • Failure of embryonic fissure fusion ! • Outpouching contiguous w vitreous gap or defect in ocular tissue • +/- retrobulbar colobomatous cyst and • Iris, ciliary body, lens, eyelid microphthalmia • Optic disc, choroidoretinal • Morning glory disc anomaly • Isolated & sporadic or syndromic ♦ Funnel shaped defect with CE glial tissue & pigmented rim ♦ Bilateral more common in syndromic • Peripapillary staphyloma ♦ Congenital scleral defect at optic nerve head, encircles optic disc Coloboma Morning Glory Disc Anomaly
Globe trauma Take home points • Lens displacement, fracture, extrusion • Retinoblastoma – primary ocular mass • Anterior chamber hyphema ♦ Unilateral, bilateral, trilateral • Vitreous hemorrhage ♦ Not all present with leukocoria • Choroid/retinal detachment ● Ddx leukocoria PHPV, detachment, Coats, ROP • Ocular melanoma – most common ocular malignancy in • Penetrating injury adults, choroid > ciliary body > iris ♦ Shallow anterior chamber • Globe calcification DDx – Rbl, drusen, astrocytoma, FB Enlarged anterior chamber - posterior injury • Globe trauma – posterior rupture may ! increased ♦ depth of anterior chamber ♦ Intraocular gas ♦ “flat-tire” or “drooping lily sign” • Foreign body intraocular glass, rock, wood
Thank you
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