Progressive optic nerve changes in cavitary optic disc anomaly: integration of copy number alteration and cis-expression quantitative trait loci to assess disease etiology
Abstract Background We performed clinical and genetic characterization of a family with cavitary optic disc anomaly (CODA), an autosomal dominant condition that causes vision loss due to adult-onset maculopathy in the majority of cases. CODA is characterized by a variably excavated optic nerve appea...
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Main Authors: | Eileen S. Hwang (Author), Denise J. Morgan (Author), Katie L. Pennington (Author), Leah A. Owen (Author), John H. Fingert (Author), Paul S. Bernstein (Author), Margaret M. DeAngelis (Author) |
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Format: | Book |
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BMC,
2019-04-01T00:00:00Z.
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