OcuLearning › Signs

Leukocoria

URGENT — Signs

Symptoms

abnormal white reflex noticed in flash photos ("the glow"), direct sunlight, or exam

poor visual tracking, strabismus (eye turn), or nystagmus

parents often report the reflex before clinical symptoms appear

eye pain or redness may occur in advanced cases of retinoblastoma

Clinical Findings

Clinical signs

  • abnormal white, yellow, or gray pupillary reflex on red reflex testing
  • absent or dulled red reflex on direct ophthalmoscopy
  • underlying cause: retinoblastoma, cataract, coats disease, pfv, or rop
  • intraocular calcifications on b-scan suggest retinoblastoma
  • microphthalmos (small eye) suggests persistent fetal vasculature (pfv)

Etiology

Retinoblastoma (RB)

  • malignant retinal tumor; mean age 18 months
  • hereditary (germline rb1) in 40%; bilateral in ~30%
  • classic: chalky white mass with calcifications

Coats disease

  • idiopathic retinal telangiectasia with massive subretinal exudation ("xanthocoria")
  • predominantly unilateral in young boys

Persistent fetal vasculature (PFV)

  • congenital failure of hyaloid regression; fibrovascular stalk from nerve to lens
  • associated with a small eye (microphthalmos) and retrolental membrane

Toxocariasis

  • nematode infection causing a localized white granuloma or diffuse vitritis
  • history of contact with puppies or geophagia (eating dirt)

Other

  • retinopathy of prematurity (rop), pediatric cataract, or retinal astrocytic hamartoma

Red Flags

leukocoria is a life-threatening emergency until retinoblastoma is ruled out

any child with an abnormal red reflex requires a dilated exam within 48–72 hours

bilateral retinoblastoma indicates germline mutation and risk of trilateral rb (pineoblastoma)

delayed diagnosis risks extraocular extension, metastasis, and death

Investigations

Imaging (mandatory)

  • b-scan ultrasonography: demonstrates calcification (>90% sensitive for rb)
  • mri orbits/brain: evaluates tumor extent and screens for pineoblastoma (avoids radiation)
  • ct: confirms calcification but increases radiation risk in potentially mutated children

Clinical exam

  • comprehensive dilated exam (usually eua: examination under anesthesia)
  • corneal diameter measurement: helps identify microphthalmos (pfv)

Laboratory & genetic

  • rb1 genetic testing for patient and first-degree relatives
  • toxocara elisa if granulomatous inflammation is suspected

Treatment

Retinoblastoma

  • chemoreduction: systemic or selective intra-arterial chemotherapy (iac)
  • focal therapy: cryotherapy, laser, or plaque radiotherapy
  • enucleation for advanced unilateral disease or unsalvageable globes

Coats disease

  • laser photocoagulation or cryotherapy of telangiectatic vessels; anti-vegf

PFV / pediatric cataract

  • lensectomy and vitrectomy for visual rehabilitation

Toxocariasis

  • topical or systemic steroids for inflammation; vitrectomy for traction bands

Clinical Pearl

White pupil in a child is RETINOBLASTOMA until proven otherwise — an ocular oncology EMERGENCY. First test is an exam under anesthesia with indirect ophthalmoscopy (not outpatient slit lamp), plus urgent B-scan (intraocular calcification >90%) and MRI brain/orbits (extent + TRILATERAL retinoblastoma screening for pineoblastoma). Germline RB1 mutation (bilateral or familial cases) carries lifelong risk of second primary malignancies — osteosarcoma, soft-tissue sarcomas, melanoma — requiring lifelong surveillance.

Differential Diagnosis

  • retinoblastoma (rb)
  • coats disease (xanthocoria)
  • persistent fetal vasculature (pfv)
  • toxocariasis
  • congenital cataract
  • retinopathy of prematurity (rop)

Related Signs Conditions