Retinoblastoma physical examination
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [2]Associate Editor(s)-in-Chief: Simrat Sarai, M.D. [3]
Overview
Common physical examination findings of retinoblastoma include leukocoria, strabismus, proptosis, anisocoria, orbital cellulitis, hyphema, heterochromia iridis, poor vision, unilateral mydriasis, rubeosis iridis, vitreous hemorrhage, and findings of a chalky white-gray retinal mass on fundoscopic examination.
Physical examination
General Appearance
- Children with retinoblastoma are generally well-appearing.
- Children may appear cachectic in advanced cases.
HEENT
- Nystagmus
- Strabismus
- Anisocoria
- Proptosis
- Poor vision
- Orbital cellulitis
- Hyphema
- Heterochromia iridis
- Unilateral mydriasis
- Rubeosis iridis
- Red, painful eye with glaucoma
- Vitreous hemorrhage
- Leukocoria (white reflex or cat's eye reflex)
- Low-set ears may be present in 13q deletion syndrome
- Telecanthus may be present in 13q deletion syndrome
- Ophthalmoscopic exam may be abnormal with findings of chalky white-gray retinal mass
- The red reflex: checking for a normal reddish-orange reflection from the eye's retina with an ophthalmoscope or retinoscope from approximately 30 cm / 1 foot, usually done in a dimly lit or dark room. Bryan Shaw helped develop a smart-phone app that can detect leukocoria in photos.
- The corneal light reflex / Hirschberg test: checking for symmetrical reflection of beam of light in the same spot on each eye when a light is shined into each cornea, to help determine whether the eyes are crossed.
- Ocular examination can be easily performed using a surgical or binocular handheld slit lamp microscope, and includes anterior segment evaluation (cornea, anterior chamber and iris).[1] 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.[2] 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.[3]
- 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.
Extremities
- 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 anaesthesia, as well as to rule out 13q deletion syndrome.
References
- ↑ 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.
- ↑ Pandey AN (2014). "Retinoblastoma: An overview". Saudi J Ophthalmol. 28 (4): 310–5. doi:10.1016/j.sjopt.2013.11.001. PMC 4250503. PMID 25473349.
- ↑ Abramson DH (1990). "Retinoblastoma 1990: diagnosis, treatment, and implications". Pediatr Ann. 19 (6): 387–95. PMID 2201000.
- ↑ Image courtesy of Dr. Frank Gaillard Radiopaedia (original file [1]).[http://radiopaedia.org/licence Creative Commons BY-SA-NC