Experimental Shot Restored Blind Child’s Vision For A Year

by : Saman Javed on : 02 Apr 2021 10:28
Experimental Shot Restored Blind Child's Vision For A Yearshutterstock

A child who suffers from a genetic disorder that causes blindness had their vision restored for a year through a single injection, according to a new study.

Researchers at the Scheie Eye Institute in the Perelman School of Medicine at the University of Pennsylvania carried out a trial, in which they inserted a single injection directly into a patient’s eye.


The child suffers from a condition called Leber congenital amaurosis (LCA), a rare genetic eye disorder that affects children from infancy and is the leading cause of blindness in childhood.


Their findings, published in the Nature Medicine journal yesterday, April 1, said researchers had injected the child’s eye with an intravitreal sepofarsen injection.

The injection is a treatment that has been designed specifically for patients with this disorder. Dr Allen Ho, a retina physician and surgeon, told Healio it is an RNA therapy that ‘demonstrates a manageable safety profile and signs of potential vision improvement’.


It works by increasing normal levels of a type of Centrosomal protein in the eye, which subsequently improves retinal function and day vision.

Researchers said the patient’s visual function and retinal structure reached a ‘substantial efficacy peak’ around three months after receiving the injection. They said there was sustained efficacy at 15 months after the injection, although there was evidence of a reduction in vision.


Artur V Cideciyan, one of the authors of the study, told Medical Xpress said the results set a ‘new standard of what biological improvements are possible’ in people who suffer from LCA.


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‘Importantly, we established a comparator for currently-ongoing gene-editing therapies for the same disease, which will allow comparison of the relative merits of two different interventions,’ he added.

Researchers told the publication that one of the reasons the injection has proven successful is because the RNA molecules are tiny enough to enter the cell nucleus, but remain there long enough to have a substantial effect on the cells.


The visually-impaired patient received the injection in early 2020. It is the first time scientists have injected the therapy directly into the human body.


Mark Pennesi, an associate professor of ophthalmology at Oregon Health & Science University in Portland, told Nature at the time that although LCA causes mutations that disable light-sensing cells in the retina, called photoreceptors, these cells are still present.

‘The hope is that you can reactivate those cells. This is one of the few diseases where we think you could actually get an improvement in vision,’ he said.

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Topics: Science, blind, blindness, Now, Vision


Medical Xpress and 2 others
  1. Medical Xpress

    A single injection reverses blindness in patient with rare genetic disorder

  2. Healio

    Safety profile for sepofarsen for Leber congenital amaurosis ‘manageable’

  3. Nature

    CRISPR treatment inserted directly into the body for first time