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April 1955

Rare Form of Hereditary Epithelial DystrophyGenetic, Clinical, and Pathologic Study

AMA Arch Ophthalmol. 1955;53(4):536-541. doi:10.1001/archopht.1955.00930010542012

During the year 1952 three patients—a 62-year-old man, a 66-year-old man, and a 4-year-old boy—presented themselves in the office of one of us (L. B. H.). The first needed a certificate for Blind Assistance; the second wanted a prescription for glasses, and the child was brought in because of a slight injury. All were active and in good health. None was concerned with the unusual condition of the cornea with which they were found to be afflicted. Inquiry revealed that all had common ancestors and relatives who were known to have or to have had poor vision. After examining several patients of this group, we initiated an investigation in two ways. First, by examining as many members of the family group as possible and getting information on former generations from all available sources, a pedigree was established. Second, a careful clinical study and a histologic examination of specimens obtained through therapeutic

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