PRENATAL DETECTION AND EARLY DIAGNOSIS OF HEREDITARY RETINOBLASTOMA IN A FAMILY

A couple asked for prenatal testing, the husband being a retinoblastom a survivor. Family history suggested that the tumor predisposing mutat ion came from his paternal side. DNA analysis indicated that the foetu s had not inherited that mutation. Detection of a regressed retinoblas toma in the husband's mother changed the interpretation of the haploty pes obtained, and it was concluded that the foetus had inherited the m utation. Ultrasonography on the 3rd day of extra-uterine life showed a retinal mass in the newborn's left eye. Two years later, the couple a sked for a new prenatal diagnosis. DNA analysis showed that the foetus had inherited the mutant retinoblastoma haplotype from the father. Fu ndus examination on the 2nd day of extra-uterine life showed a retinal lesion in the newborn's left eve at the posterior pole. This case ind icates the necessity of a thorough check on history and an ophthalmolo gical examination of family members.