Skip to content

Research shows how mutant ELOVL4 gene may contributes to pathology of Stargardt-3 macular dystrophy

Research, led by US scientists from the University of Oklahoma Health Sciences Center, show that the product of the 5-bp deletion mutant ELOVL4 gene is expressed and mis-localised to the photoreceptor outer segments. The altered photoreceptor structure and function arising from the mis-localisation appears to lead to retinal degeneration and, according to the researchers, indicates a number of possible mechanisms through which the mutation may cause retinal degeneration in STGD3. The research opens a number of potential avenues through which therapeutic strategies may be considered for treatment of the disease.