Related Experiment Video
Updated: Jul 11, 2026

Establishment and Propagation of Human Retinoblastoma Tumors in Immune Deficient Mice
Published on: August 4, 2011
Retinoblastoma with an unusual presentation in a child with polydactyly. Clinical associations and genetic
I Tsinopoulos1, V Papadopoulou, A Papandroudis
1Aristotle University, Medical School, Eye Clinic, Thessaloniki, Greece. galtsin@otenet.gr
Abstract:
Retinoblastoma is the most common intraocular malignancy of childhood. It may rarely present with white spots on the iris and pseudohypopyon. We report a case of an 11-month old child with polydactyly with this presentation of retinoblastoma. There was no positive family history of the disease. Investigations included anterior segment examination under anaesthesia, fundoscopy with scleral indentation, A- and B-scan ultrasound and MRI examination of the head. This was a Reese Ellsworth group 5 retinoblastoma with an indication for enucleation. Pathology reports of the enucleated globe showed choroidal and ciliary body invasion. Therefore, subsequent chemotherapy treatment was undertaken. The retinoblastoma gene is located in the long arm of chromosome 13. Almost all familial and bilateral cases carry the abnormal gene. In unilateral isolated retinoblastomas--as in our case--most patients do not have a germinal mutation, however, only DNA analysis can safely exclude that. We also discuss possible factors having a link to both polydactyly and retinoblastoma.
Related Concept Videos
Pedigree Analysis
Pleiotropy
Genomic Imprinting and Inheritance
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
The Retinoblastoma Gene
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
The Retinoblastoma Gene
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
Diabetic Retinopathy

