Leukocoria

Leukocoria
H. Christian Davidson, MD
DIFFERENTIAL DIAGNOSIS
Common
  • Retinoblastoma
Less Common
  • Retinal Detachment
  • Retinopathy of Prematurity
  • Persistent Hyperplastic Primary Vitreous
  • Coats Disease
  • Coloboma
  • Congenital Cataract
Rare but Important
  • Toxocariasis, Orbit
  • Ocular Melanoma, Amelanotic
  • Retinal Dysplasia
ESSENTIAL INFORMATION
Helpful Clues for Common Diagnoses
  • Retinoblastoma
    • Key facts
      • Primary retinal malignancy, PNET type
      • Most common childhood ocular tumor
      • 60% sporadic; 40% inherited
      • RB1 gene mutation
    • Imaging
      • Punctate, speckled, or flocculent calcification in > 90%
      • Strong enhancement
      • Retinal detachment not unusual
      • Unilateral in 75%
      • Look for coincident contralateral, suprasellar, or pineal tumor in patients with inherited disease
Helpful Clues for Less Common Diagnoses
  • Retinal Detachment
    • Key facts
      • Separation between inner sensory retina and outer pigmented epithelium
      • Myriad etiologies, including vascular, inflammatory, neoplastic, congenital, traumatic, and other processes
      • 3 mechanisms: Rhegmatogenous (tear), tractional (adhesions), and exudative (tumor or inflammation)
    • Imaging
      • Detached retina bulges toward vitreous, with underlying biconvex collection
      • Leaves of retina converge at optic disk, resulting in “V” contour
      • Signal varies depending on content
      • Often bloody or proteinaceous fluid
      • Hyperdense on CT
      • Hyperintense on most MR sequences
  • Retinopathy of Prematurity
    • Key facts
      • Synonym: Retrolental fibroplasia
      • Fibrovascular proliferation of immature retina, presumably related to hyperoxia of extrauterine NICU environment
    • Imaging
      • Microphthalmia
      • Retinal detachment common, often with blood-fluid levels
      • Ca++ rare except in advanced stages
  • Persistent Hyperplastic Primary Vitreous
    • Key facts
      • Primary vitreous = fetal ocular hyaloid vascular tissue
      • Normally regresses at 7 months gestation
      • Bilateral lesions typically syndromic, e.g., Norrie and Warburg syndromes
    • Imaging
      • Small globe
      • Hyperdense tissue in globe on CT
      • Hyperintense on T1WI and T2WI
      • Enhancing retrolental hyaloid remnant
      • Retinal detachment common
  • Coats Disease
    • Key facts
      • Underlying lesion is retinal telangiectasia
      • Subretinal exudate causes retinitis and subsequent detachment
    • Imaging
      • Retinal detachment is sine qua non
      • Hyperdense exudate on CT
      • Hyperintense on T1WI and T2WI
      • Occasionally calcifies (˜ 10%)
    • Coloboma
      • Key facts
      • Defect of embryonic ocular cleft
      • Syndromic associations (e.g., CHARGE)
      • Morning glory anomaly is variation
      • Excavated defect on funduscopy
    • Imaging
      • May occur anywhere in eye; defects at disc are visible on imaging
      • Defect at optic nerve head with outpouching of vitreous
      • May be associated with microphthalmia &/or secondary cyst
  • Congenital Cataract
    • Key facts
      • Opacification of lens that presents from birth to 6 months of age
      • Bilateral cataracts often syndromic, including genetic, metabolic, infectious, gestational, and other processes
    • Imaging
      • Best seen with direct visualization
      • Shape and location of lesion indicate timing and etiology of insult
      • Often limited to central portion of lens
Helpful Clues for Rare Diagnoses
Tags:
Aug 10, 2016 | Posted by in PEDIATRICS | Comments Off on Leukocoria

Full access? Get Clinical Tree
Get Clinical Tree app for offline access