Retinoblastoma physical examination

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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]

Overview

Patients with retinoblastoma usually appear normal. Physical examination of patients is usually remarkable for leukocoria, strabismus, and proptosis, particularly in advanced cases. Other findings in physical examination of retinoblastoma include anisocoria, orbital cellulitis, hyphema, heterochromia iridis, poor visual acquity, unilateral mydriasis, rubeosis iridis, vitreous hemorrhage, and findings of a chalky white-gray retinal mass on fundoscopic examination.

Physical Examination

Physical examination of patients with retinoblastoma is usually remarkable for leukocoria, strabismus, and proptosis, particularly in advanced cases.

General Appearance

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

Vital Signs

• Vital signs of patients with retinoblastoma is usally withi normal limits.

Skin

• Skin examination of patients with retinoblastoma is usually normal.

HEENT

HEENT examination of patients with retinoblastoma is usually normal except for eye examination which may include following abnormal findings: Ocular examination is followed by indirect ophthalmoscopy with indentation under full mydriasis to examine the entire retina. In over 90% of cases, direct visualization of the tumor by an indirect ophthalmoscope is diagnostic for retinoblastoma. The diagnosis of retinoblastoma is usually made during a dilated indirect ophthalmoscopic examination, performed under anesthesia. The characteristic finding is a chalky, white-gray retinal mass with a soft, friable consistency.

• Initial observation may indicate:
• Leukocoria (white reflex or cat's eye reflex)
• Strabismus or when both eyes do not look to same direction
• Periorbital swelling
• Anisocoria or enequality of pupils
• Proptosis

Assessing the visual acquity may indicate poor vision.
Examination of via slit lamp may indicate:

• Orbital cellulitis
• Hyphema
• Heterochromia iridis
• Rubeosis iridis
• Red, painful eye with glaucoma
• Vitreous hemorrhage

• Low-set ears may be present in 13q deletion syndrome
• Telecanthus may be present in 13q deletion syndrome

• The fundoscopic examination may show retinal detachment with retinal vessels visible behind the lens and may show vitreous and/or subretinal seeding. Intrinsic tumor calcification, tumor microvasculature, may also be seen. This examination permits complete visualization of the retina, identification of multifocal tumors and/or vitreous or subretinal seeding.

Neck

• Neck examination of patients with retinoblastoma is usually normal.

Lungs

• Pulmonary examination of patients with retinoblastoma is usually normal.

Heart

• Cardiovascular examination of patients with retinoblastoma is usually normal.

Abdomen

• Abdominal examination of patients with retinoblastoma is usually normal.

Back

• Back examination of patients with retinoblastoma is usually normal.

Genitourinary

• Genitourinary examination of patients with retinoblastoma is usually normal.

Neuromuscular

• Neuromuscular examination of patients with retinoblastoma is usually normal.

Extremities

• Extremities examination of patients with retinoblastoma is usually normal.
• Simian crease in the palms and broad thumb may be present in 13q deletion syndrome.
• A thorough systemic examination is important as a pre-requisite for general anesthesia, as well as to rule out 13q deletion syndrome.

References

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