Retinal Dystrophy News and Research

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Researchers identify key mechanisms to address future treatments for hereditary blindness

There are still many enigmas about the mechanism of action of the CERKL gene, which causes retinitis pigmentosa and other hereditary vision diseases.

18 Sep 2023

Study provides data to support gene supplementation as a treatment for autosomal dominant retinitis pigmentosa

A new study shows that total RPE65 protein levels in mice with autosomal dominant retinitis pigmentosa were doubled following subretinal delivery of adeno-associated virus (AAV)-RPE65 gene supplementation.

23 May 2023

Novel vectors reduce the risks associated with ocular gene therapies

Strategies based on the use of gene therapy to mitigate the effects of mutations that cause blindness are undergoing rapid development.

22 Feb 2021

Ophthalmologists find more evidence linking common bladder drug to retinal conditions

A drug widely prescribed for a bladder condition for decades, now appears to be toxic to the retina, the light sensing tissue at the back of the eye that allows us to see.

14 Oct 2019

7-year-old treated with FDA-approved gene therapy for Leber congenital amaurosis

When Zion Grant was 3 months old his mother Daisy Dodd noticed he wasn't tracking her with his eyes. Zion would fixate on a light in the room, but not on her face.

24 Sep 2019

Thin photoelectric film can stimulate degenerated retinal tissues

In a study recently published in Advanced Biomedical Engineering, researchers at Okayama University report a thin photoelectric film which can stimulate degenerated retinal tissues of the eye.

29 Jul 2019

CHOP celebrates EC approval of first and only gene therapy for patients with inherited retinal disease

Children's Hospital of Philadelphia celebrates a pivotal moment in medicine: approval by the European Commission of LUXTURNA (voretigene neparvovec), the first and only gene therapy for patients with an inherited retinal disease, last month.

6 Dec 2018

FDA approves new gene therapy targeting rare form of inherited vision loss

The U.S. Food and Drug Administration today approved Luxturna (voretigene neparvovec-rzyl), a new gene therapy, to treat children and adult patients with an inherited form of vision loss that may result in blindness.

19 Dec 2017

TSRI scientists discover how key protein establishes proper vision

Scientists from the Florida campus of The Scripps Research Institute have discovered how a protein called α2δ4 establishes proper vision.

6 Mar 2017

New drug treatment can override genetic fault that causes choroideremia

Researchers with funding from Fight for Sight have demonstrated that a new drug treatment for cystic fibrosis and Duchenne muscular dystrophy can override a genetic fault that causes choroideremia – a severe blinding disorder.

5 Dec 2016

Study shows children with rare eye disease have greatest benefit from gene therapy

Scientists at Oregon Health & Science University's Casey Eye Institute and Baylor College of Medicine's Cullen Eye Institute published findings from a two-year Phase I clinical trial in the journal Ophthalmology, which showed that children had the greatest benefit from gene therapy for treatment of Leber congenital amaurosis (LCA) or severe early childhood onset retinal degeneration (SECORD).

18 Apr 2016

Scientific collaboration pinpoints genetic cause of rare form of blindness in newborn babies

A scientific collaboration, involving the Manchester Centre for Genomic Medicine at Saint Mary's Hospital, UK, and the Telethon Institute of Genetics and Medicine in Naples, Italy, has pinpointed the genetic cause of a rare form of blindness, which can present itself as a key-hole shaped defect in the eye in newborn babies.

24 Jun 2015

TSRI scientists map out protein structure involved in cellular function, nervous system development

Scientists from The Scripps Research Institute, working closely with researchers at the National Institutes of Health, have mapped out the structure of an important protein involved in cellular function and nervous system development.

12 May 2015

Research reveals stark variation in genetic tests for inherited eye disease in England

New research from The University of Manchester published in the Journal of Community Genetics reveals a stark variation in genetic testing services for inherited eye disease in England.

31 Mar 2015

Study shows stark variation in genetic testing services for inherited eye conditions in England

New research from The University of Manchester published in the Journal of Community Genetics reveals a stark variation in genetic testing services for inherited eye disease in England.

31 Mar 2015

Genable Technologies, Spark Therapeutics to advance novel therapy for rare form of retinitis pigmentosa

Spark Therapeutics and Genable Technologies announced today that they have entered into a collaboration agreement for Genable's lead therapeutic to treat rhodopsin-linked autosomal dominant retinitis pigmentosa (RHO adRP), GT038.

25 Mar 2014

Research holds promise for developing treatments for retinitis pigmentos

One of the leading causes of inherited blindness in humans, retinitis pigmentosa, is analogous to retinal dystrophies that lead to blindness in dogs. Because of their similarities, identifying gene mutations underlying several types of canine retinal dystrophies has suggested courses for research on RP in humans. These advances are significant for both humans and dogs.

12 Sep 2013

Study shows complement activation plays an important role in inherited macular degeneration

In a study published on line this week in the journal Human Molecular Genetics, Drs. Donita Garland, Rosario Fernandez-Godino, and Eric Pierce of the Ocular Genomics Institute at the Massachusetts Eye and Ear, Harvard Medical School, along with their colleagues, reported the unexpected finding that in mice genetically engineered to have an inherited form of macular degeneration, turning off the animals' complement system, a part of the immune system, prevented the disease.

20 Aug 2013

Mass. Eye and Ear announces recipients of 2012 Curing Kids Fund grants

The Mass. Eye and Ear Curing Kids fund has awarded grants for research projects that aim to help the brain locate sound, identify genes that cause congenital blindness, cure deafness through hair cell regeneration, and improve treatment for childhood eye cancer.

16 May 2012

Inexpensive drug therapy shows promise in treating premature infants with childhood blindness

A readily available, inexpensive drug therapy showed a significant benefit in treating premature infants with the worst and historically most difficult-to-treat cases of retinopathy of prematurity.

17 Feb 2011