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A recent study in America is hoping to become a stepping stone to developing new techniques and methods of treating and working with the rare eye condition, retinoblastoma. The condition is a very rare eye disease that sees a tumour develop on the eye, something that can cause the sufferer to become blind, and in some instances can even lead to death.
Retinoblastoma is a rapidly developing cancer that develops in the cells of the retina. The most common and obvious sign of retinoblastoma is an abnormal appearance of the pupil, leukocoria, also known as amaurotic cat's eye reflex.
The research that was conducted by Bayer College of Medicine, Texas indicates a need to integrate genetic testing within treatment and management of the disease leading to a number of medical disciplines being involved at any one time so that as a team they are all aware of the implications the cancer risk brings. The genetic testing procedure looked for the presense of the mutation of the RB1 gene, linked to the disease itself, amongst the families of diagnosed children. The hope was that by testing at-risk family members, testing could be eliminated for many others in the family while identifying those most at risk.