Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Retinoblastoma physical examination
Introduction
Overview
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 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.
Physical Examination
Physical Examination
General Appearance
- Children with retinoblastoma are generally well-appearing.
- Children may appear cachectic in advanced cases.[1]
Vital Signs
- Vital signs of patients with retinoblastoma are usually within normal limits.
Skin
- Skin examination of patients with retinoblastoma is usually normal.
HEENT
- 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
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- 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
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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 a broad thumb may be present in 13q deletion syndrome.
References
References
- ↑ MacKay CJ, Abramson DH, Ellsworth RM (March 1984). “Metastatic patterns of retinoblastoma”. Arch. Ophthalmol. 102 (3): 391–6. PMID 6703986.
- ↑ Mehta M, Sethi S, Pushker N, Kashyap S, Sen S, Bajaj MS; et al. (2012). “Retinoblastoma”. Singapore Med J. 53 (2): 128–35, quiz 136. PMID 22337189.
- ↑ Clark, Robin D.; Avishay, Stefanie G. (2015). “Retinoblastoma: Genetic Counseling and Testing”: 77–88. doi:10.1007/978-3-662-43451-2_8.
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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]