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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However, a number of other conditions may also present with leukocoria, and it is critical to differentiate retinoblastoma from these so-called pseudoretinoblastomas for proper management. Any patient with an abnormal red reflex should be evaluated promptly by an ophthalmologist. A red reflex exam is also warranted at every pediatric visit from birth to 3 years and, later, as part of vision screening.

This article outlines a practical, stepwise approach to identifying daignosis diagnostic findings in retinoblastoma and pseudoretinoblastomas. The following topics should be explored. The average age at diagnosis of retinoblastoma is 18 months, and the average age for Coats disease is 5 years.

Duration of the abnormal white reflex: Other symptoms, including pain, redness, photophobia, strabismus, and blurred vision, should be noted. ROP can present as a white pupil due to retrolental fibrous tissue and total retinal detachment.

Ocular trauma can lead to cataract, retinal detachment, or vitreous hemorrhage, any of which can produce an diaghosis reflex. Consider toxocariasis if child is exposed to puppies or toxoplasmosis cats. Presence of skin lesions: It may be associated with retinal detachment resulting in leukocoria.

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Autosomal dominant inheritance of mutation in PAX6 gene on chromosome 11 has been noted. A thorough clinical examination is pivotal to the diagnosis of leukocoria. White pupillary reflex is typical of retinoblastoma Fig. Blue-gray pupil is commonly seen in congenital cataracts.


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

In preverbal children, Teller visual acuity measurements can be obtained. IOP may be elevated in both retinoblastoma and Coats disease secondary to anterior segment neovascularization.

It is important to note the presence of afferent pupillary defect, which may be a poor prognostic sign. Associated findings include if, microcornea, shallow anterior chamber, persistent tunica vasculosa lentis, cataract, fine vessels coursing over the iris to the anterior xifferential surface, and retrolental fibrovascular membrane.

Can be associated with choroidal coloboma. Neovascularization of iris and glaucoma: Can be seen in both retinoblastoma and Coats disease and can also be associated with any long-standing retinal detachment.


Also, peripheral dragging from fibrovascular proliferation is seen in FEVR. Retinoblastoma can present in 3 growth patterns: Coats disease presents as retinal exudation and exudative retinal detachment Fig. A subretinal gliotic nodule in Coats disease can be mistaken for a solitary retinoblastoma lesion. Astrocytic hamartoma in tuberous sclerosis presents as a flat Fig.

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. Vitreous hemorrhage can be secondary to trauma, posterior uveitis, or any of the vascular abnormalities noted above. Careful examination of the underlying retina will point toward the diagnosis.

Uveal coloboma appears as a sharply demarcated, glistening white, bowl-shaped excavation in the fundus Fig. Unlike retinoblastoma, no elevated mass is seen. Cultures may be confirmatory.

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

Retinal detachment from any other etiology e. Subretinal fluid and retinal detachment without a solid retinal mass Fig. Occasionally, a retinal macrocyst may be seen. Rarely, there may be linear dystrophic retinal calcifications from chronic retinal detachment at the level of RPE, unlike retinoblastoma, where the calcification is within the intraocular tumor. Persistent hyaloid remnants in PFV Fig. In patients with fifferential detachment Fig.


FA with Retcam photography is useful in evaluating children with leukocoria. OCT is increasingly used to evaluate macular tumors or simulating lesions. Noninvasive and well tolerated, it provides invaluable information on the presence of fibrosis, edema, or subretinal fluid in the macula.

Ultrasonography has good sensitivity to detect calcification; thus, CT is very rarely required. Coats disease appears as ov hyperintense subretinal exudate. Ocular toxocariasis appears as an isointense granuloma on T1 and hyperintense on T2. Toxocara exposure is common, so a positive serologic test is supportive but not diagnostic. Newer studies have indicated a somatic mutation in the NDP gene mutant in Norrie disease in Coats disease.

FNAB is avoided in patients suspected of having lekuocoria due to the risk of metastasis. Differential diagnosis of retinoblastoma.

Ramasubramanian A, Shields CL, eds. Jaypee Brothers Medical Publishers; ; Syed is an ophthalmology resident, and Dr. This work was supported in part by an unrestricted educational grant from Research to Prevent Blindness, New York. Perspectives on the Profession News in Review: News, Tips, Resources Morning Rounds: Why Dkagnosis for Increased Research Funding? Richard Mills’ Opinions, A Stepwise Approach to Leukocoria. Log In Forgot password Forgot email. There are no comments available.

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