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Aqueous Humor as a Liquid Biopsy for Retinoblastoma: Clear Corneal Paracentesis and Genomic Analysis
Published on: September 7, 2021
Delayed diagnosis of retinoblastoma
M Wirix1, R Parys-Vanginderdeuren, I Casteels
1Department of Ophthalmology, St-Rafael University Hospital, Capucijnenvoer 33, 3000 Leuven, Belgium.
Insights
Most children diagnosed with retinoblastoma (a rare eye cancer) present with advanced disease. A significant delay between symptom onset and diagnosis highlights the need for increased awareness and earlier detection strategies.
Area of Science:
- Ophthalmology
- Pediatric Oncology
Background:
- Retinoblastoma is the most common primary intraocular malignancy in children.
- Early detection is crucial for successful treatment and vision preservation.
Purpose of the Study:
- To evaluate patient age and retinoblastoma stage at diagnosis.
- To determine the time delay between initial symptoms and retinoblastoma diagnosis.
Main Methods:
- Retrospective study of 33 children (0-7 years) diagnosed with retinoblastoma.
- Analysis of diagnostic age, tumor stage, and symptom-to-diagnosis time.
Main Results:
- Most patients (31/33) were diagnosed with advanced retinoblastoma.
- The mean delay between symptom onset and diagnosis was 3.2 months, with a range of 2 months to 1 year.
Conclusions:
- A significant delay exists between the first noticed symptoms and the diagnosis of retinoblastoma.
- Improved parental and environmental awareness of retinoblastoma symptoms is essential for earlier detection.
Abstract:
The aim of our study was to evaluate the age of the patient and the stage of retinoblastoma at diagnosis and to determine the time delay between the first symptoms noticed by proxy and the diagnosis of retinoblastoma. Therefore, thirty-three children between the age of zero and seven with the diagnosis of uni- or bilateral retinoblastoma were studied retrospectively. Thirty-one patients were diagnosed with advanced disease; two patients had small tumors. The mean time delay between the first clinical symptoms and the diagnosis of retinoblastoma was 3.2 months (range 2 months to 1 year). In our study most children with retinoblastoma were diagnosed with advanced disease. In some patients there was a significant time delay between the first symptoms and the final diagnosis of retinoblastoma. Better parental and environmental information regarding symptoms of retinoblastoma could help to assure earlier detection of tumors.
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