University of Kentucky researchers, led by Dr. Jayakrishna Ambati, have made a major breakthrough in the "dry" form of age-related macular degeneration known as geographic atrophy (GA). GA is an untreatable condition that causes blindness in millions of individuals due to death of retinal pigmented epithelial cells. The paper, "DICER1 loss and Alu RNA Induce Age-Related Macular Degeneration via the NLRP3 Inflammasome and MyD88, " was published in the premier journal Cell. Ambati, professor of physiology, and professor and vice chair of ophthalmology and visual sciences at UK, is a leader in the field of macular degeneration research. Previous research from the Ambati laboratory published in the journal Nature showed that in human eyes with geographic atrophy there is a deficiency of the enzyme DICER1, leading to accumulation of toxic Alu RNA molecules in the retinal pigmented epithelium.
A research team, led by John Guy, M.D., professor of ophthalmology at Bascom Palmer Eye Institute of the University of Miami Miller School of Medicine, has pioneered a novel technological treatment for Leber Hereditary Optic Neuropathy (LHON), an inherited genetic defect that causes rapid, permanent, and bilateral loss of vision in people of all ages, but primarily males ages 20-40. Genetic mutations in the mitochondria (part of the cell that produces energy) cause the disorder. Currently, there is no cure for LHON. However, Guy and his team have successfully modified a virus and used it to introduce healthy genes into the mitochondria to correct the genetic defect. Using experimental models, they have proven that it is both safe and effective to replace mutated genes with healthy ones and that doing so prevents deterioration of the retinal cells that form the optic nerve.
Doctors at the University of Washington and the Seattle Children's Hospital describe how a 13-month-old girl was eventually identified as a child abuse victim, after initially being diagnosed with corneal abrasion and a mild infection. The case study is published in the April issue of the Journal of the American Academy of Pediatric Ophthalmology and Strabismus. According to estimates, approximately 4% to 6% of child abuse victims see an ophthalmologist first. Senior author, Avery H. Weiss, M, D, m Roger Johnson Clinical Vision Laboratory, Division of Ophthalmology, Seattle Children's Hospital, explained: "In retrospect, there were clinical and laboratory findings that might have raised concerns about child abuse earlier in the course of the condition. This troubling case is a reminder to be vigilant for the possibility of child abuse in chronic or recurrent keratoconjunctivitis with dermatitis or an uncertain etiology.
Results from the largest genetic study of glaucoma, a leading cause of blindness and vision loss worldwide, showed that two genetic variations are associated with primary open angle glaucoma (POAG), a common form of the disease. The identification of genes responsible for this disease is the first step toward the development of gene-based disease detection and treatment. About 2.2 million people in the U.S. have glaucoma. POAG is often associated with increased eye pressure but about one-third of patients have normal pressure glaucoma (NPG). Currently, no curative treatments exist for NPG. Researchers including lead author Janey Wiggs, M.D., Ph.D., and Lou Pasquale, M.D. Co-Directors of the Glaucoma the Harvard Glaucoma Center of Excellence, analyzed DNA sequences of 6, 633 participants, half of whom had POAG.
Scientists funded by the Medical Research Council (MRC) have shown for the first time that transplanting light-sensitive photoreceptors into the eyes of visually impaired mice can restore their vision. The research, published in Nature, suggests that transplanting photoreceptors - light-sensitive nerve cells that line the back of the eye - could form the basis of a new treatment to restore sight in people with degenerative eye diseases. Scientists from UCL Institute of Ophthalmology injected cells from young healthy mice directly into the retinas of adult mice that lacked functional rod-photoreceptors. Loss of photoreceptors is the cause of blindness in many human eye diseases including age-related macular degeneration, retinitis pigmentosa and diabetes-related blindness. There are two types of photoreceptor in the eye - rods and cones.