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 acuity, unilateral mydriasis, rubeosis iridis, vitreous hemorrhage, and findings of intrinsic calcification 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.[1]
Vital Signs
- Vital signs of patients with retinoblastoma is usually within 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:[2] Initial observation may indicate:
- Hypertelorism in case of concurrent 13q deletion syndrome
- 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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Assessing the visual acuity 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
Funduscopic examination of retinoblastoma may indicate:
- In smaller tumors:
- Round glazed elevations of the retina with gray-white hew which develop surrounding serous retinal detachments
- In larger tumors:
- Intrinsic calcification and a whiter 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 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
- ↑ 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.