Molecular genetics and prospects for therapy of the inherited retinal dystrophies

More than 60 genes responsible for human retinal dystrophies have been iden tified. Those recently isolated include the transcription factor genes NRL and NR2E3, RDH5 (retinol dehydrogenase), EFEMP1 (which encodes an extracell ular matrix protein), CRB1, PROML1, RP1, AIPL1 and USH1C (harmonin). The AB CR protein has been identified as a critical transporter in the recycling o f retinal (vitamin A). At present, a number of novel therapeutic strategies are being evaluated including pharmacological treatments, cell transplanta tion and gene therapy. The progress made with such approaches now offers ho pe to patients with these incurable forms of blindness.