Approach to the child with leukocoria
- Paul L Kaufman, MD
Paul L Kaufman, MD
- Director, Retina and Vitreous Disease and Surgery
- Thomas Eye Group, Atlanta, GA
- Jonathan Kim, MD
Jonathan Kim, MD
- Associate Professor of Ophthalmology
- Children's Hospital Los Angeles, USC Roski Eye Institute, USC Keck School of Medicine
- Jesse L Berry, MD
Jesse L Berry, MD
- Assistant Professor of Ophthalmology
- Children's Hospital Los Angeles, USC Roski Eye Institute, University of Southern California
Leukocoria describes the clinical finding of a white pupillary reflex (picture 1). There are many causes of leukocoria in children (table 1); the differential diagnosis can be narrowed through a complete clinical and family history and a thorough ophthalmic examination.
An overview of the causes of leukocoria in children and an approach to the diagnostic evaluation are presented here. Retinoblastoma is discussed in detail separately. (See "Retinoblastoma: Clinical presentation, evaluation, and diagnosis" and "Retinoblastoma: Treatment and outcome".)
●Leukocoria – The term leukocoria means "white pupil" (from the Greek "leukos" meaning white and "kore" meaning pupil) and is the name given to the clinical finding of a white pupillary reflex (picture 1). Leukocoria can be caused by abnormalities in the lens (eg, cataract), vitreous (eg, hemorrhage), or retina (eg, retinoblastoma) (table 1) [1,2]. It can be the initial manifestation of a wide spectrum of intraocular and systemic disease processes [3-7].
●Pseudoleukocoria – Pseudoleukocoria refers to transient leukocoria that is caused by reflection of a normal optic disc. Though this occasionally occurs, all children with newly discovered leukocoria should be referred urgently (ie, within one week) to an ophthalmologist to exclude retinoblastoma and other life- or sight-threatening conditions . (See 'Referral' below.)
CAUSES OF LEUKOCORIA
The common causes of leukocoria in children include:To continue reading this article, you must log in with your personal, hospital, or group practice subscription. For more information on subscription options, click below on the option that best describes you:
- Simon JW, Kaw P. Commonly missed diagnoses in the childhood eye examination. Am Fam Physician 2001; 64:623.
- Mark FP. Pediatarics. In: The Wills Eye Manual, 3rd, Rhee DJ, Pyfer MF (Eds), Lippincott Williams & Wilkins, Philadelphia 1999. p.199.
- Apple DJ, Rabb MF. Ocular pathology: Clinical Applications and Self Assessment, 5th, Mosby, St. Louis 1998.
- Shields JA, Augsburger JJ. Current approaches to the diagnosis and management of retinoblastoma. Surv Ophthalmol 1981; 25:347.
- Kaufman LM, Mafee MF, Song CD. Retinoblastoma and simulating lesions. Role of CT, MR imaging and use of Gd-DTPA contrast enhancement. Radiol Clin North Am 1998; 36:1101.
- Haik BG, Saint Louis L, Smith ME, et al. Magnetic resonance imaging in the evaluation of leukocoria. Ophthalmology 1985; 92:1143.
- de Courten C, Faggioni R. Acute infantile leukocoria. Am J Ophthalmol 1990; 109:612.
- Butros LJ, Abramson DH, Dunkel IJ. Delayed diagnosis of retinoblastoma: analysis of degree, cause, and potential consequences. Pediatrics 2002; 109:E45.
- Howard GM, Ellsworth RM. Differential diagnosis of retinoblastoma. A statistical survey of 500 children. I. Relative frequency of the lesions which simulate retinoblastoma. Am J Ophthalmol 1965; 60:610.
- Maki JL, Marr BP, Abramson DH. Diagnosis of retinoblastoma: how good are referring physicians? Ophthalmic Genet 2009; 30:199.
- Haider S, Qureshi W, Ali A. Leukocoria in children. J Pediatr Ophthalmol Strabismus 2008; 45:179.
- The eyes. In: Pediatric diagnosis: Interpretation of symptoms and signs in children and adolescents, 6th, Green M (Ed), WB Saunders Company, Philadelphia 1998. p.15.
- Cheng KP, Hiles DA, Biglan AW. The differential diagnosis of leukokoria. Pediatr Ann 1990; 19:376.
- Haddad R, Font RL, Reeser F. Persistent hyperplastic primary vitreous. A clinicopathologic study of 62 cases and review of the literature. Surv Ophthalmol 1978; 23:123.
- Shields JA, Shields CL, Honavar SG, Demirci H. Clinical variations and complications of Coats disease in 150 cases: the 2000 Sanford Gifford Memorial Lecture. Am J Ophthalmol 2001; 131:561.
- Smithen LM, Brown GC, Brucker AJ, et al. Coats' disease diagnosed in adulthood. Ophthalmology 2005; 112:1072.
- Black GC, Perveen R, Bonshek R, et al. Coats' disease of the retina (unilateral retinal telangiectasis) caused by somatic mutation in the NDP gene: a role for norrin in retinal angiogenesis. Hum Mol Genet 1999; 8:2031.
- Giles CL. Pediatric intermediate uveitis. J Pediatr Ophthalmol Strabismus 1989; 26:136.
- Kincaid MC, Green WR. Ocular and orbital involvement in leukemia. Surv Ophthalmol 1983; 27:211.
- Traboulsi EI. Pediatric ophthalmology. In: Oski's Pediatrics. Principles and Practice, 4th, McMillan JA, Feigin RD, DeAngelis C, Jones MD (Eds), Lippincott, Williams & Wilkins, Philadelphia 2006. p.801.
- Norrie disease. In: Online Mendelian Inheritance in Man, Johns Hopkins University, Baltimore, MD. http://omim.org/entry/310600?search=norrie%20disease&highlight=norrie%20disease (Accessed on October 12, 2011).
- Kim JW, Singh AD. Differential Diagnosis of Leukocoria. In: Clinical Ophthalmic Oncology: Retinoblastoma, 2nd ed, Singh AD, Murphree AL, Damato BE (Eds), Springer, New York 201. p.13.
- Canzano JC, Handa JT. Utility of pupillary dilation for detecting leukocoria in patients with retinoblastoma. Pediatrics 1999; 104:e44.
- Wong FL, Boice JD Jr, Abramson DH, et al. Cancer incidence after retinoblastoma. Radiation dose and sarcoma risk. JAMA 1997; 278:1262.
- DerKinderen DJ, Koten JW, Nagelkerke NJ, et al. Non-ocular cancer in patients with hereditary retinoblastoma and their relatives. Int J Cancer 1988; 41:499.
- MacKay CJ, Abramson DH, Ellsworth RM. Metastatic patterns of retinoblastoma. Arch Ophthalmol 1984; 102:391.
- Kingston JE, Clark J, Santos H, et al. Failure to thrive leading to early detection of retinoblastoma. Pediatr Hematol Oncol 1990; 7:199.
- Holladay DA, Holladay A, Montebello JF, Redmond KP. Clinical presentation, treatment, and outcome of trilateral retinoblastoma. Cancer 1991; 67:710.
- Abramson DH, Frank CM, Susman M, et al. Presenting signs of retinoblastoma. J Pediatr 1998; 132:505.
- Mafee MF, Goldberg MF, Cohen SB, et al. Magnetic resonance imaging versus computed tomography of leukocoric eyes and use of in vitro proton magnetic resonance spectroscopy of retinoblastoma. Ophthalmology 1989; 96:965.
- Char DH, Hedges TR 3rd, Norman D. Retinoblastoma. CT diagnosis. Ophthalmology 1984; 91:1347.
- Malkani I, Warrier RP, Yu LC, Ode DL. Retinoblastoma: a review. Indian J Pediatr 1993; 60:227.
- Mackeen LD, Nischal KK, Lam WC, Levin AV. High-frequency ultrasonography findings in persistent hyperplastic primary vitreous. J AAPOS 2000; 4:217.
- CAUSES OF LEUKOCORIA
- Persistent fetal vasculature
- Coats disease
- Retinopathy of prematurity
- Optic disc abnormalities
- Vitreous hemorrhage
- Hereditary retinal syndromes/retinal dysplasia
- Astrocytic hamartoma
- Anisometropic amblyopia
- CLINICAL EVALUATION
- Detection of leukocoria
- Physical examination
- OPHTHALMOLOGIC EXAMINATION
- External examination
- Extraocular motor evaluation
- Slit lamp examination
- Dilated fundus examination
- Examination under anesthesia
- OTHER STUDIES
- LABORATORY EVALUATION