Leber Congenital Amaurosis News and Research

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Intraocular injection improves vision in a form of congenital retinal blindness

A new treatment for patients with a form of congenital retinal blindness has shown success in improving vision, according to results published today in Nature Medicine led by researchers at the Scheie Eye Institute in the Perelman School of Medicine at the University of Pennsylvania.

18 Dec 2018

Gene therapy for rare genetic blindness wins prestigious Champalimaud Vision award

A team of seven researchers collaborating from United States and Britain have found a way to use gene therapy to cure a rare form of childhood blindness that occurs due to a genetic predisposition.

5 Sep 2018

Study finds genetic treatment for inherited retinal disorder

A new study presented at the 121st Annual Meeting of the American Academy of Ophthalmology (AAO) 2017, for the first time found a novel gene therapy that can improve the eyesight of patients with inherited retinal disease.

13 Nov 2017

New gene therapy for blindness may soon be reality

Patients who had lost their sight to an inherited retinal disease could see well enough to navigate a maze after being treated with a new gene therapy, according to research presented today at AAO 2017, the 121st Annual Meeting of the American Academy of Ophthalmology.

10 Nov 2017

FDA advisory committee vote 16-0 for first even gene therapy for rare blindness

A panel of advisors to the United States Food and Drug Administration (FDA) has voted unanimously in favor of an experimental gene therapy to treat patients with a rare kind of hereditary blindness.

16 Oct 2017

Suppression of thyroid hormone receptor protects cone cells in mouse models of retinal diseases

New research published online in The FASEB Journal suggests that the suppression of thyroid hormone receptor activity locally in the retina protects cone photoreceptor cells in mouse models of human retinal degenerative diseases

11 May 2017

OIST scientists use zebrafish model to unravel causes behind human LCA

Newborns babies can be at risk of congenital blindness, presenting sight defects due to lesions or to genetic mutations in their genome.

5 Apr 2017

Penn scientists find striking similarities between human patients with LCA and dogs

Ciliopathies are diseases that affect the cilia, sensory organelles that most mammalian cells possess and which play a critical role in many biological functions.

30 Aug 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

Gene therapy restores visual function in mouse model of LCA1

Mice lacking the protein retGC1, which is deficient in humans suffering Leber congenital amaurosis-1 (LCA1), a disorder that causes severe visual impairment beginning in infancy, received gene therapy to replace retGC1 and showed fully restored visual function that persisted for at least 6 months.

1 Sep 2015

Genetic finding could lead to new treatments for people living with blindness, vision loss

Finding genes for retinal degenerations has immediate benefits for people living with blindness and vision loss, their families, and their physicians. Establishing a genetic cause confirms the clinical diagnosis at the molecular level, helps predict the future visual prognosis, suggests therapies, and allows some patients to join clinical trials. While more than 200 genes for retinal degenerations have been identified, approximately 40-50% of cases remain a mystery.

13 Jan 2015

Auxilium Pharmaceuticals plans to merge with QLT

Auxilium Pharmaceuticals, Inc., a fully integrated specialty biopharmaceutical company, and QLT Inc., a Canadian-based biotechnology company focused on developing innovative orphan ophthalmology products, today announced that they have entered into a definitive agreement under which Auxilium plans to merge with QLT.

26 Jun 2014

Human Treg responses allow sustained recombinant adeno-associated virus-mediated transgene expression

Successful gene therapy is based on the effective delivery and maintained expression of healthy copies of a gene into tissues of individuals with a disease-associated genetic mutation.

16 Nov 2013

Investigators report complete catalog of genes expressed in retina

Investigators at Massachusetts Eye and Ear and Harvard Medical School have published the most thorough description of gene expression in the human retina reported to date. In a study published today in the journal BMC Genomics, Drs. Michael Farkas, Eric Pierce and colleagues in the Ocular Genomics Institute at Mass. Eye and Ear reported a complete catalog of the genes expressed in the retina.

20 Jul 2013

Gene therapy does not slow or halt progression of cell loss in Leber congenital amaurosis

Independent clinical trials, including one conducted at the Scheie Eye Institute at the Perelman School of Medicine, have reported safety and efficacy for Leber congenital amaurosis (LCA), a congenital form of blindness caused by mutations in a gene (RPE65) required for recycling vitamin A in the retina. Inherited retinal degenerative diseases were previously considered untreatable and incurable.

23 Jan 2013

Gene therapy improves vision but does not halt progression of cell loss

22 Jan 2013

Gene discovery made for infant-onset blindness

Researchers have discovered that mutations in the NMNAT1 gene encoding nicotinamide mononucleotide adenylyltransferase 1 are present in patients with Leber congenital amaurosis.

1 Aug 2012

Scientists identify new gene responsible for genetic form of blindness in newborns

One of the mysteries of blindness has been solved. A team of international scientists in collaboration with the Research Institute of the McGill University Health Centre (RI MUHC) identified a new gene responsible for Leber Congenital Amaurosis (LCA), a devastating genetic form of blindness in newborns.

30 Jul 2012

Researchers isolate elusive human gene that causes NMNAT1-related Leber congenital amaurosis

Researchers from the Massachusetts Eye and Ear Infirmary, The Children's Hospital of Philadelphia, Loyola University Chicago Health Sciences Division and their collaborators have isolated an elusive human gene that causes a common form of Leber congenital amaurosis (LCA), a relatively rare but devastating form of early-onset blindness. The new LCA gene is called NMNAT1.