In 1987, Dr. Stone began the laboratory in a single room which had no equipment for refrigerated centrifugation, electrophoresis, or micro-pipetting. Over three years, with support from the Knights Templar Eye Foundation, Research to Prevent Blindness, the C.S. O'Brien Center for Macular Disease, and the National Eye Institute, the laboratory expanded in size to nearly 1700 square feet. In 1990, Dr. Sheffield came to the University of Iowa and brought with him special expertise in gene mapping and mutation detection. Drs. Stone and Sheffield immediately joined forces and in the ensuing six years made a number of significant contributions to the study of eye diseases at the molecular level. In addition to mapping several eye disease genes, they also developed new methods for detection of disease-causing mutations in retinitis pigmentosa, hereditary retinal detachments, familial macular degeneration, hereditary optic neuropathy, and a hereditary form of cancer known as von Hippel Lindau Syndrome.
This diagram summarizes a technique for identifying disease-causing mutations known as "GC-clamped denaturing gradient gel electrophoresis". An affected patient has four bands while a normal individual (not shown) has only one. The GC clamp was developed by Dr. Sheffield and significantly increases the test's sensitivity.
To complement the fixed laboratory at the University, the investigators also developed a mobile ophthalmology clinic capable of ophthalmoscopy, slit lamp biomicroscopy, refraction, Goldmann perimetry, electro-retinography, electro-oculography, and fundus photography. This unit has traveled to over 40 cities (as far away as Kentucky) to study families with inherited eye diseases who could not make the trip to Iowa City. More details of these field trips are given elsewhere in this report.
Dr. Stone checks vision on a farm in Missouri.
