Progressive optic nerve changes in cavitary optic disc anomaly: integration of copy number alteration and cis-expression quantitative trait loci to assess disease etiology

• 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)
• פורמט: ספר
• יצא לאור: BMC, 2019-04-01T00:00:00Z.
• נושאים: article
• גישה מקוונת: Connect to this object online.

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...