Ophthalmology Times Europe covered Dr. Carol Shields’ study of pediatric unilateral retinoblastoma. This tumor is caused by a mutation in a gene, RB1, which controls ocular development at the embryonic level.
Retrospectively, retinoblastoma is hereditary for all children who develop it in both eyes, and in 15% of cases, it is transmitted to children if one of the parents was affected by this during their pediatric age.
Patients with retinoblastoma might present with a white pupil, be cross-eyed, or otherwise have visual problems. This disease affects 2% of the pediatric population and develops during the first 2 years of life. This tumor spreads to the back of the eye, although it can sometimes metastasize through the optic nerve to the brain. Symptoms of its spread associate with loss of appetite, vomiting, and acute headaches.
Thus, in suspected retinoblastoma cases, it is necessary to perform specific tests, from ultrasound to CT Scan or even MRI (magnetic resonance imaging). Further analysis should be conducted if the tumor spreads to the bone or bone marrow. Doctors in charge to diagnose such cases of cancer in children are Geneticists, as the genetic mutation that causes this must be evaluated first with the help of genetic tests.
In due course, it is also important to make parents informed about the possible risks to other blood relatives of the patient diagnosed with unilateral or bilateral retinoblastoma, brothers and sisters. It is equally important to focus on early diagnoses, because in the absence of specific treatments the results can be severe, sometimes death within 2 years. However, in some cases, if you undergo targeted treatments the survival for non-diffuse retinoblastoma is 90% but it might involve the removal of the eye.
From what we can see, the diagnosis may have a large impact on the child’s life as well as that of the family. However, scientific fields such as genetics and ophthalmology are taking important steps every day to ensure the right intervention way before the disease’s manifestation.
Treatments that ensure survival are still effective today but they can be improved. However, they are not equally available in all world countries. After all, the resolution of Ophthalmic problems is constantly evolving. One perfect example is Professor Sheri Rowen’s proposed innovative therapies for dry eye.
Thanks to the commitment of the researchers and scientists involved, the progress in this branch of genetic and ophthalmology will soon lead to the defeat of the pathologies that causes suffering and hampers the quality of life.