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Retinoblastoma in an eye with congenital uveal coloboma
Journal article   Peer reviewed

Retinoblastoma in an eye with congenital uveal coloboma

M D Mills and N Syed
Journal of AAPOS, Vol.2(5), pp.303-304
10/1998
DOI: 10.1016/S1091-8531(98)90088-X
PMID: 10646753

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Abstract

Retinoblastoma and congenital ocular abnormalities rarely coexist. The appearance of an intraocular tumor in a child with preexisting leukokoria may make the diagnosis of retinoblastoma more challenging. This report describes a unique case of unilateral congenital uveal coloboma and ipsilateral retinoblastoma in a patient with no family history of either abnormality and normal cytogenetic analysis.
Blotting, Southern Chromosomes, Human, Pair 13 - genetics Retinoblastoma - genetics Humans Infant Tomography, X-Ray Computed Chromosome Disorders Retinal Neoplasms - complications Genes, Retinoblastoma - genetics Retinal Neoplasms - diagnosis Ultrasonography Female DNA, Neoplasm - analysis Retinoblastoma - diagnosis Coloboma - complications Diagnosis, Differential Coloboma - diagnosis Visual Acuity Retina - diagnostic imaging Chromosome Aberrations - genetics Iris - abnormalities Retinoblastoma - complications Retina - pathology Choroid - abnormalities Retinal Neoplasms - genetics

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