The number of copies of a fragment in a test sample was calculated by comparing fluorescence intensity of the fragment with these standards. Fragment value detection and subsequent calculations were performed automatically by Fragment Manager 2.1 Software. The approach is a rapid, cost-effective initial method for screening patient samples. The mutations shown were not only small deletion and insertion, but also the single copy exons heterozygous mutation in the RB1 gene which the previously used methods were unable to detect. These features make the technique an attractive approach to clinical diagnosis of gene defects.
Trilateral retinoblastoma is a rare and almost exclusively fatal disease.
Previous treatment regimens have failed to prolong life once the diagnosis is made. We present the first documented case of a patient with neonatal trilateral retinoblastoma successfully treated with chemotherapy and sequential local retinal treatment who is alive and well 26 months after diagnosis. Using a systematic literature review, we contacted authors to obtain missing information. TRb usually affected the second or third generation with retinoblastoma. All children whose TRb exceeded 15 mm in size died.