1 post published by pediatriceducationmin on January 2, There are many causes of leukocoria in children (table 1); the differential diagnosis can be narrowed through a complete clinical and family. Differential Diagnosis of Leukocoria. Jerry A. Shields and Carol L. Shields. ETINOBLASTOMA is a highly malignant. R intraocular tumor of childhood that re-.

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A review of the literature.

Differential diagnosis of leukocoria and strabismus, first presenting signs of retinoblastoma

Leukocoria, or any other unexplained ocular sign in an infant should always, until proved otherwise, invoke the possibility of a malignant tumor and put in motion all the necessary means for prompt diagnosis.

Post was not sent – check your email addresses! Available from the Internet at http: He was taken to the operating room and had the detachment surgically corrected.

Whether the family doctor or pediatrician, the primary care physician is usually the first to be confronted with the problem and thus plays an essential differentiial, as the evolution and ultimate outcome of leukocorix disease will depend on the speed of reaction at this initial stage. The primary sign is leukocoria.

Sleiman, Abdul-Karim, et al.

Abstract Leukocoria in infants is always a danger signal as retinoblastoma, a malignant retinal tumor, is responsible for half of the cases in this age group. Other symptoms, including pain, redness, photophobia, strabismus, and blurred vision, should be noted.

It can be differentiated from retinoblastoma by its lack of retinal detachment, lack of growth, and the course of retinal blood vessels under or around the astrocytic tumor.

Fifty-two forms of childhood cancer: In the adult, optic nerve glioma is malignant and invariably fatal due to involvement of the chiasma and cerebral structures. Ultrasonography has good sensitivity to detect calcification; thus, CT is very rarely required. Pop-up div Successfully Displayed This div only appears when the trigger link is hovered over. The average age at diagnosis of retinoblastoma is 18 months, and the average age for Coats disease is 5 years.


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However, invasion of surrounding tissues may lead to involvement of the chiasma and infiltration of adjacent cerebral structures. The tumor develops when a negative regulator of the cell cycle pRB is inactive or absent secondary to mutations in Shorter time to diagnosis and improved stage at presentation in Swiss patients with retinoblastoma treated from to Retinoblastoma Augsburger et al ; Abramson et al ; Balmer and Munier a ; Aerts et al ; Bornfeld et al is a malignant tumor of the retina resulting from a double oncogenic mutation between the beginning of the 3rd month of gestation and 4 years of age in an immature retinal cell, most likely a multipotent retinoblast Munierprecursor cone cell.

Atypical signs can cause major problems in diagnosis Binder ; Balmer et al ; de Leon et al and include red eye, uveitis, hypopyon, hyphema, heterochromia, rubeosis, glaucoma or phthisis bulbi, in particular as ultimate complications of unchecked disease. Differential diagnosis Depending on the clarity of the media, first signs, stage of disease, frequency, the type and gravity of complications associated with spontaneous evolution, the approach to differential diagnosis will be made according to whether diagnosis is simple, difficult or concerns rare diseases.

Differential diagnosis of leukocoria and strabismus, first presenting signs of retinoblastoma.

National Center for Biotechnology InformationU. Jaypee Brothers Medical Publishers; ; A CT scan is useful in detecting calcifications that may have escaped leukicoria but does involve X-rays and is thus potentially dangerous with cumulative examinations Apushkin et al Leukocoria is a sign observed by the naked eye or with a scope, often detected incidentally on routine eye examination, or in photographs; it is not a diagnosis.


Patient-focused care is provided by working with health care professionals, including those from other disciplines. Autosomal dominant inheritance of mutation in PAX6 gene on chromosome 11 has been noted.

Differential diagnosis of leukocoria and strabismus, first presenting signs of retinoblastoma.

Non invasive and well tolerated, it provides invaluable information on the presence of fibrosis, edema or subretinal fluid in the foveal area Shields et al Parental age in sporadic hereditary retinoblastoma. Duration of the abnormal white reflex: Log In Forgot password Forgot email. A full family anamnesis is essential, with particular attention to any history of enucleation in infancy. Although he had no obvious physical abnormalities associated with a congenital syndrome, he was referred to genetics for consultation.

Anterior chamber or lens abnormalities Cataract Corneal opacity Glaucoma Hypopyon i.

This article has been cited by other articles in PMC. Introduction Retinoblastoma represents the greatest challenge in the field of ophthalmology. Retinal Disorders and Eye Diseases.

This is characterized by homogenous, more or less translucent greyish masses, calcifications, with pigment migration and proliferation bordering the tumor Gallie et al Primary or secondary retinal detachment may further complicate the assessment. ROP can present as a white pupil due to retrolental fibrous tissue and total retinal detachment. Richard Mills’ Opinions,