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Mapping X-linked Ophthalmic Diseases: III. Provisional Assignment of the Locus for Blue Cone Monochromacy to Xq28
Abstract
Blue cone monochromacy (BCM) is an infrequent X-linked retinal disorder typified by poor central visual acuity and color discrimination, early onset of nystagmus, variable degrees of myopia and astigmatism, and a nearly normal retinal appearance. The physiologic functions of rods and blue cones are preserved. The regional location of the genetic mutation causing BCM has been unknown. We have applied the modern molecular techniques of analysis of restriction fragment length polymorphisms to three multigenerational kindreds in which BCM is segregating. Significant linkage is established to two DNA markers, DXS15 and DXS52, each of which maps to the vicinity of Xq28. Regional localization of the locus for BCM has the potential to improve carrier detection and to provide antenatal diagnosis in families at risk for the disease.
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“until linkage mapping showed it to be linked to Xq28, the same chromosomal location as the L and M opsin genes (Lewis, Holcomb, Bromley, Wilscon, Roderick & Hejtmancik, 1987).”
From The genetics of normal and defective color vision (2011) · cites this paper as Lewis et al., 1987
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The genetics of normal and defective color vision
Neitz, J., & Neitz, M. (2011) · Vision Research · doi:10.1016/j.visres.2010.12.002 · Cited by 377
Metadata
- Authors
- Lewis, R. A.
- Venue
- Archives of Ophthalmology
- Publisher
- American Medical Association (AMA)
- Published
- 1987-08-01
- Volume
- 105
- Issue
- 8
- Pages
- 1055
- ISSN
- 0003-9950
- Cited by
- 22
- References
- 0
- Language
- en
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- CoChat. (2026). Citation check: Mapping X-linked Ophthalmic Diseases: III. Provisional Assignment of the Locus for Blue Cone Monochromacy to Xq28. https://app.cochat.ai/papers/10.1001/archopht.1987.01060080057028
- The paper
- Lewis, R. A. (1987). Mapping X-linked Ophthalmic Diseases: III. Provisional Assignment of the Locus for Blue Cone Monochromacy to Xq28. Archives of Ophthalmology. https://doi.org/10.1001/archopht.1987.01060080057028
