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Characterization of a novel form of X-linked incomplete achromatopsia

Published online by Cambridge University Press:  05 April 2005

MICHAEL A. CROGNALE ,
MICHAEL FRY ,
JENNIFER HIGHSMITH ,
GUNILLA HAEGERSTROM-PORTNOY ,
MAUREEN NEITZ ,
JAY NEITZ  and
MICHAEL A. WEBSTER
MICHAEL A. CROGNALE
Affiliation:
University of Nevada at Reno
MICHAEL FRY
Affiliation:
University of Nevada at Reno
JENNIFER HIGHSMITH
Affiliation:
University of Nevada at Reno
GUNILLA HAEGERSTROM-PORTNOY
Affiliation:
University of California, Berkeley
MAUREEN NEITZ
Affiliation:
Medical College of Wisconsin, Milwaukee
JAY NEITZ
Affiliation:
Medical College of Wisconsin, Milwaukee
MICHAEL A. WEBSTER
Affiliation:
University of Nevada at Reno
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Abstract

X-linked incomplete achromatopsia (XIA), also called blue-cone monochromacy (BCM), is a rare cone disorder that most commonly results either from one of two conditions.. The first condition is a deletion of the locus control region (LCR) which is a critical DNA element that lies upstream of the L and M photopigment gene array on the X-chromosome and is necessary for expression of the photopigment genes. The second condition is an inactivating point mutation within the coding sequence of the remaining photopigment gene in an array from which all but one gene has been deleted. Many previous studies have concluded that affected individuals either have only rods and S-cones (Blackwell & Blackwell, 1957, 1961; Daw & Enoch, 1973; Hess et al., 1989) or have rods, S-cones, and another cone type that contains the rod pigment (Pokorny et al., 1970; Alpern et al., 1971). However, Smith et al. (1983) described individuals with XIA who had residual L-cone function. Here we report results for a subject with XIA who appears to have residual M-cone function. Genetic analysis revealed that he had apparently normal genes for M-cone photopigment thus leaving open the possibility that he has a contribution to vision based on expression of these genes at a very low level.

Keywords

Blue-cone monochromacyCone disorderColor blindnessMonochromatGenetics
Type
Research Article
Information
Visual Neuroscience , Volume 21 , Issue 3 , May 2004 , pp. 197 - 203
Copyright
© 2004 Cambridge University Press

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