Retinoblastoma

1. Life Expectancy with Retinoblastoma

The incidence of retinoblastoma is approximately 1 in 15,000 to 20,000 live births. In China, over 1,100 new cases are diagnosed annually, second only to India (which reports over 1,500 cases per year). About 84% of cases occur in children under 3 years old, and 95% in children under 5 years old, with no racial or gender differences. One-third of cases are bilateral, with an earlier average onset age of 15 months, while two-thirds are unilateral, with a later average onset age of 27 months. Over 90% of cases are sporadic, meaning there is no family history. Currently, the eyeball preservation rate in China is approximately 30-50%. About 1-2% of patients experience eyeball atrophy during disease progression, with subsequent tumor necrosis, clinically referred to as "spontaneous regression." With timely treatment, long-term survival is possible. International data indicate an overall survival rate of up to 96%.

2. Symptoms of Retinoblastoma

Since the tumor occurs in infants and young children, early detection is challenging. Over 50% of cases are discovered by parents due to leukocoria (a white reflection in the pupil area) as the tumor progresses. Approximately 20% of affected eyes exhibit esotropia or exotropia due to vision impairment caused by tumor involvement in the macula. A small number of cases present with eye redness, pain, and glaucoma, which may be misdiagnosed by clinicians as uveitis but are actually "masquerade syndrome" caused by retinoblastoma.

Examination reveals round or oval, poorly defined, yellowish-white elevated masses on the retina. The surface of the masses may show dilated retinal blood vessels or hemorrhage, sometimes accompanied by retinal detachment. Tumor masses can disseminate within the eye, and tumor growth may increase intraocular pressure, leading to corneal epithelial edema, corneal enlargement, and eyeball expansion. In advanced stages, the tumor may penetrate the eyeball wall, presenting as a mass on the eye surface or proptosis. The tumor can extend into the cranial cavity or orbit, metastasize to nearby lymph nodes or soft tissues, or spread systemically via the bloodstream, potentially resulting in death.

3. Treatment for Retinoblastoma

For early-stage patients, treatment options include chemotherapy, localized radiation therapy, highly selective ophthalmic artery chemotherapy, and combination therapies. These approaches have improved eyeball preservation rates, and some patients retain partial useful vision. However, for advanced-stage patients, enucleation remains the primary treatment. Missing the optimal treatment window may lead to enucleation or even loss of life.

4. Is Retinoblastoma Hereditary?

Retinoblastoma is the most common intraocular malignant tumor in infants and young children, posing a serious threat to vision and life. It originates in the retinal nuclear layer and has a familial hereditary tendency. The probability of occurrence in offspring is higher than in the general population. Currently, there is no method to definitively rule out retinoblastoma before birth, either internationally or domestically.

A patient with bilateral, hereditary retinoblastoma has a 50% chance of passing the disease to their children. A patient with unilateral, non-familial retinoblastoma has only a 5% chance of their next generation being affected. For a patient with bilateral retinoblastoma, their healthy siblings or children still have a 2-6% chance of the next generation developing the disease.

5. Is Retinoblastoma Fatal?

Retinoblastoma (RB) is the most common intraocular malignant tumor in infants and young children, posing a serious threat to vision and life. Among eye diseases in infants and young children, it is the most severe and harmful malignant tumor. Originating in the retinal nuclear layer, it has a familial hereditary tendency and predominantly affects children under 5 years old. It can occur unilaterally, bilaterally, sequentially, or simultaneously. This disease is prone to intracranial and distant metastasis. Without timely treatment, it often endangers the child's life.

6. Causes of Retinoblastoma

Retinoblastoma (Rb) is a neuroectodermal tumor caused by mutations in the Rb gene, leading to the loss of tumor suppressor gene function and the development of malignancy. In recent years, there has been an increasing trend in clinical cases, which some attribute to rising environmental pollution.