DESPITE ITS COMPLEXITY, the retina is limited in its ability to manifest readily observable patterns that distinguish certain heritable diseases. The resulting phenotypic similarities among affected individuals often mask a vast array of distinct underlying molecular defects. A greater understanding of these defects will likely lead to more accurate diagnoses and prognoses as well as suggest potential strategies for therapeutic intervention. Advances in genetic analysis have provided scientists and clinicians with powerful tools to pursue this goal. The results of these efforts are increasingly evident in the ophthalmic and visual science literature, as further demonstrated in this issue of the ARCHIVES. The article by Lotery et al1 describes novel mutations in a recently described gene, CRB1, that cause a subset of Leber congenital amaurosis (LCA). This finding brings the total number of genes implicated in LCA to 6 and, perhaps more importantly, provides another avenue for the study of the pathophysiologic mechanisms of this devastating, incurable disease.
Gamm DM, Thliveris AT. Implications of Genetic Analysis in Leber Congenital Amaurosis. Arch Ophthalmol. 2001;119(3):426-427. doi:10.1001/archopht.119.3.426