Utility of fluorescence in sity hybridization in the detection of RB1 germline mutations in retinoblastoma patients

To determine the utility of fluorescence in situ hybridization [FISH] in the detection of RB1 germline mutations in retinoblastoma patients. University Children's Hospital. Patients selected for the study were required to have histologically proven retinoblastoma after enucleation. Peripheral blood samples were obtained and subjected to conventional karyotyping [G-banding], and FISH testing using and RB1-specific fluorescent DNA probe. Twenty-one cases were enrolled, 7 cases with bilateral disease, and 14 cases with unilateral disease. All cases had a normal-appearing karyotype. Six out of the 7 bilateral cases [85.7%] had a positive result by FISH, indicating the presence of a germline DNA microdeltion. In all 14 cases of unilateral disease, FISH was negative. In bilateral cases of retinoblastoma, FISH could confirm the presence of a germline abnormality in the majority of patients, obviating the need for direct DNA sequencing. In unilateral disease, FISH could not detect any germline mutations, despite a previously documented incidence of such mutations in these cases. Based on these results, FISH may be used as an initial screening tool in bilateral cases, while direct sequencing of DNA may be reserved for cases that are FISH-negative. In unilateral cases, it is probably preferable to directly apply DNA sequencing techniques without initial screening by FISH

Diagnosis of ocular congenital anomialies by ultrasonography

To demonstrate the different ocular anomalies diagnosed by B-Scan ultrasonography in pediatric Ophthalmology clinic. 300 children, with either opaque media or difficult examination without anaethesia were examined using B-scan ultrasonography looking for suspected congenital anomalies. Different congenital anomalies were detected on examination and their percentages were recorded. Different ophthalmological anomalies when detected early can help to identify the prognosis of these cases to interfere as early as possible or prevent unnecessary interference