Ophthalmologists deal with many genetic disorders. They do so by detecting the results of an abnormal gene's action, not by working directly with the abnormal gene itself. Until recently, in fact, it was impossible to isolate individual human genes. The discovery of restriction endonucleases made it possible to divide giant DNA molecules in a reproducible fashion into small pieces that could be further manipulated and studied. This capability combined with other powerful and sophisticated technologies made it possible to work with individual genes. In the case of retinoblastoma, the responsible gene has been identified, and the messenger RNA has been sequenced. These investigations have for the most part not been reported in the eye literature but rather in the major interdisciplinary journals Nature and Science.1-3 It is important that ophthalmologists, the physicians who care for patients with retinoblastoma, keep abreast of these advances and appreciate their implications.
Albert DM, Dryja TP. Recent Studies of the Retinoblastoma GeneWhat It Means to the Ophthalmologist. Arch Ophthalmol. 1988;106(2):181-182. doi:10.1001/archopht.1988.01060130191021