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Discovery sets the stage for the development of new therapies to treat vitelliform macular dystrophy.
Retina with yolk-like lesions in a person with vitelliform macular dystrophy
Using a new imaging technique, researchers from the National Eye Institute found that retinal lesions of vitelliform macular dystrophy (VMD) vary by gene mutation. Addressing these differences may be the key to designing effective treatments for these and other rare diseases. NEI is part of the National Institutes of Health.
“NEI’s long-term investment in imaging technology is changing our understanding of eye diseases,” said NEI Director Michael F. Chiang, M.D. that can inform the development of therapeutics.”
VMD is an inherited genetic disease that causes progressive vision loss due to degeneration of the light-sensitive retina. Genes implicated in VMD include BEST1, PRPH2, IMPG1, and IMPG2. Depending on the gene and mutation, age of onset and severity vary widely. All forms of the disease have in common a lesion in the central retina (macula) that looks like an egg yolk and is a build-up of toxic fatty material called lipofuscin. VMD affects approximately 1 in 5,500 Americans and there is currently no treatment for this condition.
Johnny Tam, Ph.D., head of the NEI Clinical and Translational Imaging Unit, used multimodal imaging to evaluate the retinas of patients with VMD at the NIH Clinical Center. Tam’s multimodal imaging uses adaptive optics—a technique that uses deformable mirrors to improve resolution—to see living cells in the retina, including the light-sensitive photoreceptors, retinal pigment epithelium (RPE) cells, and blood vessels in unprecedented detail.
The mission of the National Eye Institute is “to conduct and support research, education, dissemination of health information, and other programs with respect to blinding eye diseases, visual disorders, mechanisms of visual function, preservation of sight, and the special Health problems and requirements of the blind.
Tam and his team collaborated with clinicians at the NEI Eye Clinic to characterize 11 participants using genetic testing and other clinical assessments, and then evaluated their retinas using multimodal imaging. Assessment of cell densities (photoreceptors and RPE cells) in VMD lesions revealed differences in cell density after the different mutations. IMPG1 and IMPG2 mutations had a greater effect on photoreceptor cell density than RPE cell density. The opposite was true with PRPH2 and BEST1 mutations. In participants with only one affected eye, the researchers noted similar effects on cell density in the unaffected eye, despite the absence of lesions.
Tam uses multimodal imaging on a variety of other rare retinal diseases and more common ones, including age-related macular degeneration.
This press release describes a basic research finding. Basic research increases our understanding of human behavior and biology, which is the basis for developing new and better ways to prevent, diagnose and treat disease. Science is an unpredictable and incremental process—every research proposal builds on previous discoveries, often in unexpected ways. Most clinical advances would not be possible without the knowledge of fundamental basic research. To learn more about basic research, visit https://www.nih.gov/news-events/basic-research-digital-media-kit.
NEI leads the federal government’s research on the visual system and eye diseases. NEI supports basic and clinical science programs to develop vision-saving treatments and address special needs of people with vision loss. For more information, visit https://www.nei.nih.gov.
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NIH, the nation’s medical research agency, includes 27 institutes and centers and is a component of the US Department of Health and Human Services. NIH is the primary federal agency that conducts and supports basic, clinical, and translational medical research, investigating the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, visit www.nih.gov.
