What is Retinoblastoma?
Retinoblastoma is a rare form of eye cancer that primarily affects young children, most commonly those under the age of five. It originates in the retina, the light-sensitive tissue at the back of the eye. Although not exclusive to neonates, early detection in newborns can significantly improve the prognosis.
Causes and Risk Factors
This cancer is typically caused by genetic mutations. About 40% of cases are hereditary and involve a mutation in the
RB1 gene. The remaining 60% are sporadic and occur without a family history. Children with a family history of retinoblastoma are at increased risk and may develop the condition at an earlier age.
Symptoms and Signs
Early signs of retinoblastoma in neonates and infants may include: Leukocoria (a white reflection in the pupil, often referred to as "cat's eye reflex")
Strabismus (crossed eyes)
Poor vision
Redness and swelling of the eye
Parents and caregivers should be vigilant for these symptoms and seek medical advice promptly.
Diagnosis
Diagnosis typically involves a thorough eye examination by an ophthalmologist. Tools such as
ophthalmoscopy and imaging techniques like
ultrasound,
MRI, and
CT scans are used to confirm the presence of a tumor. Genetic testing may also be recommended, especially in cases with a family history of the disease.
Treatment Options
Treatment depends on the size, location, and extent of the tumor and may involve a combination of therapies:Prognosis
The prognosis for retinoblastoma varies based on the stage at diagnosis and the effectiveness of treatment. Early detection and treatment can lead to a high survival rate, and many children go on to live normal, healthy lives. However, some may experience vision loss or other complications.Prevention and Screening
For families with a history of retinoblastoma, genetic counseling and testing are crucial. Regular eye examinations starting from birth can help in early detection. In some cases, early intervention with preventive therapies may be considered.Conclusion
Retinoblastoma, though rare, is a critical neonatal disorder that requires prompt attention. Awareness of symptoms, early diagnosis, and appropriate treatment are key to improving outcomes for affected infants. Parents and healthcare providers must work together to ensure timely intervention and comprehensive care.
