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13 pags., 7 figs. -- Open Access funded by Creative Commons Atribution Licence 4.0 ; Earlier studies have shown that the gradient index of refraction (GRIN) of the crystalline lens can be reconstructed in vitro using Optical Coherence Tomography (OCT) images. However, the methodology cannot be extended in vivo because it requires accurate measurements of the external geometry of the lens. Specifically, the posterior surface is measured by flipping the lens so that the posterior lens surface faces the OCT beam, a method that cannot be implemented in vivo. When the posterior surface is imaged through the lens in its natural position, it appears distorted by the unknown GRIN. In this study, we demonstrate a method to reconstruct both the GRIN and the posterior surface shape without the need to flip the lens by applying optimization routines using both on-axis and off-axis OCT images of cynomolgous monkey crystalline lenses, obtained by rotating the OCT delivery probe from -45 to +45 degrees in 5 degree steps. We found that the GRIN profile parameters can be reconstructed with precisions up to 0.009, 0.004, 1.7 and 1.1 (nucleus and surface refractive indices, and axial and meridional power law, respectively), the radius of curvature within 0.089 mm and the conic constant within 0.3. While the method was applied on isolated crystalline lenses, it paves the way to in vivo lens GRIN and posterior lens surface reconstruction. ; European Research Council (ERC) under European Union's Horizon 2020 research and innovation programme (H2020-MSCA COFUND-2015 FP-713694, MULTIPLY); Spanish government (FIS2014-56643-R, FIS2017-84753-R); European Research Council under the European Union's Seventh Framework programme (ERC-2011-AdG-2940); National Eye Institute (R01EY021834; F31EY021444); Ruth L. Kirschstein National Research Service Award Individual Pre-doctoral Fellowship (P30EY14801 Center Core Grant); the Florida Lions Eye Bank and Beauty of Sight Foundation; the Henri and Flore Lesieur Foundation.

To access publisher full text version of this article. Please click on the hyperlink in Additional Links field. ; A trio of genome-wide association studies recently reported sequence variants at three loci to be significantly associated with schizophrenia. No sequence polymorphism had been unequivocally (P<5 × 10(-8)) associated with schizophrenia earlier. However, one variant, rs1344706[T], had come very close. This polymorphism, located in an intron of ZNF804A, was reported to associate with schizophrenia with a P-value of 1.6 × 10(-7), and with psychosis (schizophrenia plus bipolar disorder) with a P-value of 1.0 × 10(-8). In this study, using 5164 schizophrenia cases and 20,709 controls, we replicated the association with schizophrenia (odds ratio OR = 1.08, P = 0.0029) and, by adding bipolar disorder patients, we also confirmed the association with psychosis (added N = 609, OR = 1.09, P = 0.00065). Furthermore, as it has been proposed that variants such as rs1344706[T]-common and with low relative risk-may also serve to identify regions harboring less common, higher-risk susceptibility alleles, we searched ZNF804A for large copy number variants (CNVs) in 4235 psychosis patients, 1173 patients with other psychiatric disorders and 39,481 controls. We identified two CNVs including at least part of ZNF804A in psychosis patients and no ZNF804A CNVs in controls (P = 0.013 for association with psychosis). In addition, we found a ZNF804A CNV in an anxiety patient (P = 0.0016 for association with the larger set of psychiatric disorders). ; European Union LSHM-CT-2006-037761 PIAP-GA-2008-218251 HEALTH-F2-2009-223423 National Genomic Network (NGFN-2) of the German Federal Ministry of Education and Research (BMBF) National Institute of Mental Health R01 MH078075 Center of Excellence for Complex Disease Genetics of the Academy of Finland 213506 129680 Biocentrum Helsinki Foundation and Faculty of Medicine, University of Helsink info:eu-repo/grantAgreement/EC/FP7/218251