The National Eye Institute is sad to learn of the passing of Muriel Isolde Kaiser-Kupfer, M.D., a researcher in genetic eye diseases and retired chief of the Ophthalmic Genetics and Visual Function Branch in the National Eye Institute (NEI).
Dr. Kaiser-Kupfer earned her M.D. from Johns Hopkins University School of Medicine in 1961. She then completed a pediatric internship, residency, and fellowship, and served as assistant director and instructor at the Johns Hopkins University Hospital until 1968. From 1968 to 1970, she completed a residency in ophthalmology and served as a consultant in the congenital defects clinic at the University of Washington School of Medicine in Seattle, where she met Carl Kupfer, M.D., who became her husband. From 1974 through 2004, Dr. Kaiser-Kupfer served as medical officer, Ophthalmology and Pediatrics Clinical Branch at NEI, and eventually was appointed section chief and branch chief of Ophthalmic Genetics and Visual Function, and deputy clinical director at NEI.
During almost 30 years of her research career, Dr. Kaiser-Kupfer had remarkable success in reducing visual loss associated with disorders of metabolism, focusing first on gyrate atrophy, which causes retinal degeneration and resulting visual disability by the age of 50 or 60. Conducting an 18-year study of the treatment of gyrate atrophy in patients from many parts of the world, she and her colleague, Dr. David Valle of Johns Hopkins University School of Medicine, discovered that this eye disease was caused by an enzyme deficiency. They then proved that a diet restricted in arginine, an amino acid, slows the progression of the disease.
Dr. Kaiser-Kupfer’s efforts on another disease emphasize her devotion to the care of patients with rare eye disease. That disorder is nephropathic cystinosis, a rare disease that eventually causes kidney failure at about ten years of age. In this disorder, crystals of cystine, a component of protein found in hair, skin, and other tissues of the body, begin to build up in the cornea by one year of age. As the number of crystals increases in the cornea, patients experience severe pain and have difficulty keeping their eyes open. Occasionally, the crystals break through the corneal surface, causing the cornea to become hazy, and resulting in a reduction of vision.
Seeking treatment for the children with this devastating disorder, Kaiser-Kupfer worked with long-term collaborator and cystinosis expert Dr. William A. Gahl to test the use of topical cysteamine, a byproduct of the amino acid cysteine, on animal corneas. They then conducted a human clinical trial that demonstrated the disappearance of the crystals and the resulting relief of pain and improvement of vision. In 1987, Kaiser-Kupfer published a study in the New England Journal of Medicine that described the successful removal of crystals from the cornea by use of cysteamine. The expected approval of cysteamine eyedrops by the U.S. Food and Drug Administration will make this therapy available to children and adults with cystinosis throughout the world. In 1990, Dr. Kaiser-Kupfer received the Lifetime Achievement Award from the Cystinosis Foundation for her role in developing the cystinosis treatment.
Recently, Dr. Kaiser-Kupfer was honored by the National Library of Medicine in its ongoing series called “Local Legends: Celebrating America’s Local Women Physicians.” She was nominated by Congressman Chris Van Hollen (D-MD-8).
Dr. Kaiser-Kupfer authored more than 100 scientific papers. But it is her focus on patients and her commitment to linking laboratory findings to clinical treatments that best characterize her life’s work in improving people’s eyesight.