January 1997

Genomic Mapping of Kjer Dominant Optic Atrophy

Author Affiliations

Boston, Mass

Arch Ophthalmol. 1997;115(1):115-116. doi:10.1001/archopht.1997.01100150117022

Kjer DOMINANT optic atrophy (DOA) is a rare primary degeneration of the retinal ganglion cell. In this issue of the Archives, 2 articles describing the genetic analysis of single, large, affected families confirm the initial genomic mapping of this disease to chromosome 3q27-3q28 and refine the localization of the gene to a 4 to 7 centimorgan region.1,2 These mapping studies are important steps toward the cloning and characterization of the actual gene. Although this disorder is a rare cause of blindness, the genetic analysis of this disease will provide an opportunity to investigate one mechanism of optic nerve degeneration and to determine what role this gene may play in other degenerative disorders of the retinal ganglion cell and optic nerve.

See also pages 95 and 100

Kjer DOA is inherited as an autosomal dominant trait with high penetrance. The responsible gene was initially mapped to chromosome 3q27-3q28 in 1994.

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