title: Retinoblastoma in an eye with congenital uveal coloboma.
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.
authors.affiliation: Department of Ophthalmology and Visual Science, University of Wisconsin School of Medicine, Madison, USA.
authors.forename: M D
authors.initials: MD
authors.lastname: Mills
authors.forename: N
authors.initials: N
authors.lastname: Syed
mesh_terms: D015139:Blotting, Southern; D002829:Choroid / Q000002:abnormalities*; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics; D003103:Coloboma / Q000150:complications* / Q000175:diagnosis; D004273:DNA, Neoplasm / Q000032:analysis; D003937:Diagnosis, Differential; D005260:Female; D016161:Genes, Retinoblastoma / Q000235:genetics; D006801:Humans; D007223:Infant; D007498:Iris / Q000002:abnormalities*; D012160:Retina / Q000000981:diagnostic imaging / Q000473:pathology; D019572:Retinal Neoplasms / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D012175:Retinoblastoma / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D014057:Tomography, X-Ray Computed; D014463:Ultrasonography; D014792:Visual Acuity
chemical_list: D004273:DNA, Neoplasm