As director of the National Eye Institute (NEI), one of the National Institutes of Health, I am sad to report that Muriel Isolde Kaiser-Kupfer, M.D., researcher in genetic eye diseases and chief of NEI's Ophthalmic Genetics and Visual Function Branch until her retirement in 2004, passed away January 9, 2008 after a lengthy illness.

Kim, as she was known to many of her friends and colleagues, was an accomplished scientist. She had remarkable success in reducing visual loss associated with the metabolic disorders gyrate atrophy and nephropathic cystinosis. Her stellar career emphasized her devotion to the care of patients with these rare diseases. She will be remembered for her focus on patients and her commitment to linking laboratory findings to clinical treatments that improved people's eyesight.

Originally from New York, Dr. Kaiser-Kupfer spent part of her childhood in Florida, where at the age of 14 she was a champion diver. She graduated from Wellesley College in 1957 and earned her M.D. from Johns Hopkins University School of Medicine in 1961. She was one of only four women in the class. 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. She was one of the few women physicians of her era who were board certified in both pediatrics and ophthalmology.

Dr. Kaiser-Kupfer joined NEI in 1972 and from 1974 through 2004 served in a number of leadership roles: founding member of the NIH Medical Genetics Training Program, medical officer in NEI's Ophthalmology and Pediatrics Clinical Branch, section chief and branch chief of Ophthalmic Genetics and Visual Function, NEI representative to the NIH Inter-Institute Genetics Group, and deputy clinical director.

In addition to researching gyrate atrophy and cystinosis, Dr. Kaiser-Kupfer pioneered new ways to diagnose and treat other hereditary diseases such as neurofibromatosis II, congenital cataracts, and anomalies of the anterior segment. She was the author or co-author of more than 100 scientific papers, and she mentored and inspired many medical students, residents, and fellows. In addition, she volunteered with the Maryland School for the Blind and gave hope to many young people there who were then seen and treated at NEI. Because she spoke Spanish, she saw many Hispanic patients with congenital and hereditary diseases.

For much of her 30-year career, Dr. Kaiser-Kupfer focused on gyrate atrophy, which causes retinal degeneration and resulting visual disability by the age of 50 or 60. She and her colleague, Dr. David Valle of Johns Hopkins University School of Medicine, conducted an 18-year study of the disease in patients from many parts of the world, and discovered that it was caused by an enzyme deficiency. They then proved that a diet restricted in arginine, an amino acid, slows the progression of the disease.

Another disease to which Dr. Kaiser-Kupfer devoted much of her research and clinical work was nephropathic cystinosis, a rare disease that eventually causes kidney failure at about ten years of age. In this disorder crystals of cystine begin to build up in the cornea by one year of age. Cystine is a component of protein found in hair, skin, and other tissues of the body. 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 vision loss.

Seeking treatment for the children with this devastating disorder, Dr. Kaiser-Kupfer worked with long-term collaborator and cystinosis expert William A. Gahl, M.D., Ph.D., clinical director in the National Human Genome Research Institute. The two tested 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.

Dr. Gahl, in his recollections at Kaiser-Kupfer's memorial service, described what it was like to know and work with her. "Kim developed eye drops to deliver cysteamine directly to the cornea," he explained. "After a few months of treatment, the crystals actually dissolved and for hundreds of patients the pain was gone. It was a miracle. Kim herself was a miracle. In her professional interactions, she displayed the grace and form of the competitive diver that she was. She provided care at every visit, but discoveries for all time. She was an excellent pediatrician, a great ophthalmologist, a fine person, and a wonderful friend."

In 1990, Dr. Kaiser-Kupfer received the Lifetime Achievement Award from the Cystinosis Foundation for her role in developing the cystinosis treatment. After her retirement from NEI, she was honored by the National Library of Medicine in its ongoing series called "Local Legends: Celebrating America's Local Women Physicians."

Dr. Kaiser-Kupfer is survived by her husband, Dr. Carl Kupfer, founding NEI director, their children Charles and Sarah, and four grandchildren.

The National Eye Institute (NEI) is part of the National Institutes of Health (NIH) and is the federal government's lead agency for vision research that leads to sight-saving treatments and plays a key role in reducing visual impairment and blindness. For more information, visit the NEI Website at http://www.nei.nih.gov.

The National Institutes of Health (NIH) — The Nation's Medical Research Agency — includes 27 Institutes and Centers and is a component of the U.S. Department of Health and Human Services. It is the primary federal agency for conducting and supporting basic, clinical and translational medical research, and it investigates the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, visit www.nih.gov.