RESUMO
Lymphocyte cultures were employed to assess the degree of spontaneous and induced chromosomal fragility in retinoblastoma. Sister chromatid exchange (SCEs) were scored in metaphases. Three unilateral, three bilateral, eleven family members and controls were studied. Retinoblastoma (RB) lymphocytes did not exhibit increased spontaneous fragility. X-irradiation (25-200 rad) did not significantly increase SCE in unilateral retinoblastoma lymphocytes when compared with controls (P greater than 0.50). However, bilaterally affected subjects and three unaffected relatives demonstrated a statistically significant increase in SCE (P less than 0.01). In conclusion, hereditary retinoblastoma lymphocytes appear more radiosensitive than sporadic retinoblastoma, perhaps, reflecting the increased second malignancies in germinal mutation retinoblastoma. In addition, the analysis of radiation-induced SCE in peripheral blood lymphocytes of RB patients and family members may provide a valuable tool increasing the accuracy of genetic counseling for this disorder. Additional studies of RB patients and families are needed to assess the relevance of this approach to genetic counseling.
Assuntos
Troca Genética/efeitos da radiação , Neoplasias Oculares/genética , Linfócitos/efeitos da radiação , Retinoblastoma/genética , Troca de Cromátide Irmã/efeitos da radiação , Adolescente , Adulto , Criança , Pré-Escolar , Fragilidade Cromossômica , Feminino , Humanos , Linfócitos/fisiologia , Masculino , MetáfaseRESUMO
A case is reported of histopathologically documented CMV retinitis. It is part of a recently appreciated syndrome in young homosexual men, in which cellular immune deficiency has been documented and in which CMV infection may play a role. This case demonstrates that CMV retinitis is not excluded by negative CMV serology or cultures.