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 fundocopic examination with findings of chalky white-gray retinal mass.
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