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] Sahar Memar Montazerin, M.D.[4]
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.[1]
Vital Signs
- Vital signs of patients with retinoblastoma is usally withi normal limits.
Skin
- Skin examination of patients with retinoblastoma is usually normal.
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).[2] 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.[3] 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.[4]
- 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.
- HEENT examination of patients with [disease name] is usually normal.
OR
- Abnormalities of the head/hair may include ___
- Evidence of trauma
- Icteric sclera
- Nystagmus
- Extra-ocular movements may be abnormal
- Pupils non-reactive to light / non-reactive to accommodation / non-reactive to neither light nor accommodation
- Ophthalmoscopic exam may be abnormal with findings of ___
- Hearing acuity may be reduced
- Weber test may be abnormal (Note: A positive Weber test is considered a normal finding / A negative Weber test is considered an abnormal finding. To avoid confusion, you may write "abnormal Weber test".)
- Rinne test may be positive (Note: A positive Rinne test is considered a normal finding / A negative Rinne test is considered an abnormal finding. To avoid confusion, you may write "abnormal Rinne test".)
- Exudate from the ear canal
- Tenderness upon palpation of the ear pinnae/tragus (anterior to ear canal)
- Inflamed nares / congested nares
- Purulent exudate from the nares
- Facial tenderness
- Erythematous throat with/without tonsillar swelling, exudates, and/or petechiae
Neck
- Neck examination of patients with [disease name] is usually normal.
Lungs
- Pulmonary examination of patients with [disease name] is usually normal.
Heart
- Cardiovascular examination of patients with [disease name] is usually normal.
Abdomen
- Abdominal examination of patients with [disease name] is usually normal.
Back
- Back examination of patients with [disease name] is usually normal.
Genitourinary
- Genitourinary examination of patients with [disease name] is usually normal.
Neuromuscular
- Neuromuscular examination of patients with [disease name] is usually normal.
OR
- Patient is usually oriented to persons, place, and time
- Altered mental status
- Glasgow coma scale is ___ / 15
- Clonus may be present
- Hyperreflexia / hyporeflexia / areflexia
- Positive (abnormal) Babinski / plantar reflex unilaterally/bilaterally
- Muscle rigidity
- Proximal/distal muscle weakness unilaterally/bilaterally
- ____ (finding) suggestive of cranial nerve ___ (roman numerical) deficit (e.g. Dilated pupils suggestive of CN III deficit)
- Unilateral/bilateral upper/lower extremity weakness
- Unilateral/bilateral sensory loss in the upper/lower extremity
- Positive straight leg raise test
- Abnormal gait (describe gait: e.g. ataxic (cerebellar) gait / steppage gait / waddling gait / choeiform gait / Parkinsonian gait / sensory gait)
- Positive/negative Trendelenburg sign
- Unilateral/bilateral tremor (describe tremor, e.g. at rest, pill-rolling)
- Normal finger-to-nose test / Dysmetria
- Absent/present dysdiadochokinesia (palm tapping test)
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 anesthesia, as well as to rule out 13q deletion syndrome.
- Extremities examination of patients with [disease name] is usually normal.
OR
- Clubbing
- Cyanosis
- Pitting/non-pitting edema of the upper/lower extremities
- Muscle atrophy
- Fasciculations in the upper/lower extremity
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.
- ↑ 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