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IRDs and Genetic Testing

Inherited retinal disorders are rare, hereditary disorders caused by mutations in genes that encode proteins needed for normal retinal health and function. The first gene associated with retinitis pigmentosa was identified at Mass Eye and Ear in 1990, and since then, over 250 IRD-causing genes have...

Current Gene Therapies for IRDs

The first gene-augmentation therapy for an IRD was approved by the U.S. Food and Drug Administration (FDA) in December 2017 after nearly two decades of development in preclinical models and clinical trials. The drug, known as Luxturna®, is for individuals with autosomal recessive retinal dystrophies...

HMS Ophthalmology Faculty Member Featured in Short Documentary

Lotfi Merabet, OD, PhD, MPH appeared in a short video about Laura Dewey Bridgman who attended the Perkins School for the Blind in the 1800s and is the first known deaf-blind person to be successfully educated in the United States. She learned tactile sign language through her teacher, Dr. Samuel...

Use sunglasses for vision protection starting at an early age

Louis Pasquale, MD of Mass. Eye and Ear's Glaucoma Service and Thomas Merrill, OD, optician and manager of Mass. Eye and Ear Optical Services, were quoted in an article on protecting eyes from sun damage. Dr. Pasquale stressed the danger of reflective surfaces, such as water or snow, to eyes, and...

Researchers Resurrect Ancient Viruses in Hopes of Improving Gene Therapy

Boston, MA Researchers at Massachusetts Eye and Ear and Schepens Eye Research Institute have reconstructed an ancient virus that is highly effective at delivering gene therapies to the liver, muscle, and retina. This discovery, published July 30 in Cell Reports, could potentially be used to design...

Genome editing with CRISPR-Cas9 prevents angiogenesis of the retina

Powerful new technology may lead to novel therapies to prevent vision loss, blindness in those with diseases of the retina Boston, Mass. — A research team from the Schepens Eye Research Institute of Massachusetts Eye and Ear has successfully prevented mice from developing angiogenesis of the retina...

Dr. Stefater receives vitreoretinal scholarship

James “Tony” Stefater, MD, PhD, a vitreoretinal fellow at Mass. Eye and Ear, received the 2017 Vitreoretinal Research Scholarship from the Robert Machemer Foundation in the amount of $20,000 over one year. His winning project, “Development of a novel post-operative intraocular retinal tamponade...