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Implications of Genetic Analysis in Leber Congenital Amaurosis
Arch Ophthalmol. 2001;119:426-427.
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DESPITE ITS COMPLEXITY, the retina is limited in its ability to manifest
readily observable patterns that distinguish certain heritable diseases. The
resulting phenotypic similarities among affected individuals often mask a
vast array of distinct underlying molecular defects. A greater understanding
of these defects will likely lead to more accurate diagnoses and prognoses
as well as suggest potential strategies for therapeutic intervention. Advances
in genetic analysis have provided scientists and clinicians with powerful
tools to pursue this goal. The results of these efforts are increasingly evident
in the ophthalmic and visual science literature, as further demonstrated in
this issue of the ARCHIVES. The article by Lotery et al1
describes novel mutations in a recently described gene, CRB1, that cause a subset of Leber congenital amaurosis (LCA). This
finding brings the total number of genes implicated in LCA to 6 and, perhaps
more importantly, provides another avenue for the study of . . . [Full Text of this Article]
RELATED ARTICLE
Mutations in the CRB1 Gene Cause Leber Congenital Amaurosis
Andrew J. Lotery, Samuel G. Jacobson, Gerald A. Fishman, Richard G. Weleber, Anne B. Fulton, P. Namperumalsamy, Elise Héon, Alex V. Levin, Sandeep Grover, Justin R. Rosenow, Kelly K. Kopp, Val C. Sheffield, and Edwin M. Stone
Arch Ophthalmol. 2001;119(3):415-420.
ABSTRACT
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THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES
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Molecular genetics of Leber congenital amaurosis
Cremers et al.
Hum Mol Genet 2002;11:1169-1176.
ABSTRACT
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