Ophthalmologists Perspective

Molecular biology has significantly contributed to our understanding of inherited retinal disease, in particular to that of monogenic disorders. The discovery of the responsible gene, the elucidation of its function, and the increasing understanding of the pathogenesis of inherited retinal disorders is both exciting and important. From the clinician’s point of view, this new information is helpful in diagnosis and prognosis, and may ultimately yield benefits in the form of therapy. This chapter deals with the advances made in the field of molecular biology as it pertains to inherited retinal disorders from the perspective of the clinician. Identification of specific loci, genes, and causative mutations have led to reclassification and reordering of the preexisting nosological classification. Progression in the understanding of the function of the relevant protein, and putative metabolic disturbance caused by the mutation at the cellular level, is continuing and therapies developed to address these abnormalities are currently undergoing evaluation.