A Molecular ‘Override’ for Inherited Blindness: Vision Research Group Publishes Recent Paper

For children born with a rare form of inherited blindness called Leber congenital amaurosis type 16 (LCA16), the genetic culprit can be a single miswritten instruction in their DNA — a so-called “nonsense mutation” that tells the cell to stop building a critical protein before it’s finished. The result is a truncated, nonfunctional protein, a retina that cannot do its job, and progressive loss of sight with no approved treatment.

Bikash Pattnaik, PhD

A paper by Pawan Shahi and Enes Akyuz, co-first authors, published on June 9, 2026, in Signal Transduction and Targeted Therapy — one of the highest-impact journals in biomedical science — reports a proof-of-concept therapy that overrides that premature stop signal, restores the missing protein, and measurably improves retinal function in patient-derived cells and in a mouse model of the disease. The senior author is Bikash Pattnaik, PhD, a professor in the Division of Neonatology and Newborn Nursery, with a joint appointment in the Department of Ophthalmology and Visual Sciences. He is also clinical director of visual electrophysiology at UW Health, and holder of the Retina Research Foundation Daniel M. Albert Chair at the McPherson Eye Research Institute.