Figure 5.

Postreceptoral structures along the retinocortical pathway in CEP290-LCA. (A) Left, OCT scans along the vertical meridian in a normal subject and a CEP290-LCA patient. ONL is highlighted blue, INL is highlighted purple, and GCL is highlighted orange. (B) Quantitation of the three nuclear layer and the RNFL thickness in 6 CEP290-LCA patients compared with normal results (shaded areas; mean ± 2 SD). (C) Optic nerve anatomy. A normal-appearing optic chiasm (arrowhead) observed on T1 imaging. High-resolution T2-weighted axial and coronal images were obtained through the optic nerves. The position of the coronal slice displayed is indicated by the dashed line on the axial image. The cross-sectional diameter of the interpial optic nerve (arrows) was estimated at three positions along each nerve, and the average diameter is within the range of normal (plot). (D) Whole-brain morphometric analysis. The T1-weighted anatomic images from CEP290-LCA and controls were warped to a representative template (top row). The (log) determinant of the Jacobian matrix calculated during warping for each subject (bottom row) indexes the degree to which cerebral tissue is smaller or larger than the template image. No significant deviation from control measures was seen in two CEP290-LCA patients. A focused analysis was conducted within occipital lobe white matter (red on the registered anatomy). The z-position (mm) of each axial slice relative to the anterior commissure is indicated. The average (log) Jacobian measure within the occipital white matter for CEP290-LCA and normal subjects indicates no differences (plot). (C, D) Reprinted with permission from Cideciyan AV, Aleman TS, Jacobson SG, et al. Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis. Hum Mutat. 2007;28:1074–1083. © 2007 John Wiley & Sons, Inc. Published by Wiley-Liss, Inc.