Retinoblastoma physical examination

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Simrat Sarai, M.D. [2] Sahar Memar Montazerin, M.D.[3]

Patients with retinoblastoma usually appear normal. Physical examination of patients is usually remarkable for leukocoria, strabismus, and proptosis, particularly in advanced cases. Other findings on physical examination of retinoblastoma include anisocoria, orbital cellulitis, hyphema, heterochromia iridis, poor visual acuity, unilateral mydriasis, rubeosis iridis, vitreous hemorrhage, and findings of intrinsic calcification on fundoscopic examination.

• Children with retinoblastoma are generally well-appearing.
• Children may appear cachectic in advanced cases.^[1]

• Vital signs of patients with retinoblastoma are usually within normal limits.

• Skin examination of patients with retinoblastoma is usually normal.

• Hypertelorism in case of concurrent 13q deletion syndrome^[2]
• Leukocoria (white reflex or cat’s eye reflex)
• Strabismus or when both eyes do not look to the same direction
• Periorbital swelling
• Anisocoria or inequality of pupils
• Proptosis

• Decreased visual acuity
• Slit lamp examination may show:
  • Orbital cellulitis
  • Hyphema
  • Heterochromia iridis
  • Rubeosis iridis
  • Red, painful eye with glaucoma
  • Vitreous hemorrhage
• Funduscopic examination may show:
  • Small tumors: Round glazed elevations of the retina with gray-white hew which develop surrounding the serous retinal detachments
  • Large tumors: Intrinsic calcification and a white color with seeding into the subretinal and or the vitreous space
• Patients with 13q deletion syndrome may present with:^[3]
  • Hypertelorism
  • Flat nasal bridge
  • Small mouth and nose
  • High arched or cleft palate
  • Micrognathia
  • Microcephaly

• Neck examination of patients with retinoblastoma is usually normal.

• Pulmonary examination of patients with retinoblastoma is usually normal.

• Cardiovascular examination of patients with retinoblastoma is usually normal.

• Abdominal examination of patients with retinoblastoma is usually normal.

• Back examination of patients with retinoblastoma is usually normal.

• Genitourinary examination of patients with retinoblastoma is usually normal.

• Neuromuscular examination of patients with retinoblastoma is usually normal.

• Extremities examination of patients with retinoblastoma is usually normal.
• Simian crease in the palms and a broad thumb may be present in 13q deletion syndrome.

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