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Carroll, J.

Publications and source records attributed to Carroll, J..

2 recordsLinked to original sources

Interocular Symmetry and Repeatability of Foveal Outer Nuclear Layer Thickness in Congenital Achromatopsia

PurposeTo examine the intraobserver repeatability of foveal outer nuclear layer (ONL) thickness measurements and evaluate interocular symmetry for patients with achromatopsia (ACHM) and controls.\n\nDesignCross-sectional study.\n\nSubjectsSixty-four patients with CNGA3- or CNGB3-associated ACHM and 38 patients with normal vision were recruited for analysis.\n\nMethodsHorizontal line scans through the fovea of each eye were acquired using optical coherence tomography. Three foveal ONL thickness measurements were made by a single observer using custom software to analyze repeatability. Interocular symmetry was assessed using the average of the three measurements for each eye.\n\nMain Outcome MeasuresThe main parameter being measured is foveal ONL thickness.\n\nResultsMean ({+/-} SD) foveal ONL thickness for ACHM patients was 74.86 {+/-} 17.82m (OD) and 75.30 {+/-} 15.68m (OS) compared to 110.60 {+/-} 15.67m (OD) and 110.53 {+/-} 13.91m (OS) for controls. Foveal ONL thickness did not differ between eyes for ACHM (p = 0.821) or control patients (p = 0.961). Intraobserver repeatability was high for foveal ONL measurements in ACHM patients (ICC = 0.939, OD and 0.915, OS) and controls (ICC = 0.991, OD and 0.984, OS).\n\nConclusionsFoveal ONL thickness can be measured with excellent repeatability. While foveal ONL thickness is reduced in ACHM compared to controls, the high interocular symmetry indicates that contralateral ONL measurements could be used as a negative control in early-phase monocular treatment trials.

neuroscience

Shared gene co-expression networks in autism from induced pluripotent stem cell (iPSC) neurons

BackgroundAutism is a heterogenous collection of disorders with a complex molecular underpinning. Evidence from post-mortem brain studies using adult brains have indicated that early prenatal development may be altered in autism. Induced pluripotent stem cells (iPSCs) generated from autistic individuals with macrocephaly also indicate prenatal development as a critical period for this condition. But little is known about early altered cellular events during prenatal stages in autism. MethodsIPSCs were generated from 9 unrelated autistic individuals without macrocephaly and with heterogeneous genetic backgrounds, and 6 typically developing, control, individuals. IPSCs were differentiated towards either cortical or midbrain fates. Gene expression and high throughput cellular phenotyping was used to characterise iPSCs at different stage of differentiation. ResultsA subset of autism-iPSC cortical neurons were RNA-sequenced to reveal autism-specific signatures similar to post-mortem brain studies, indicating a potential common biological mechanism. Autism-iPSCs differentiated towards a cortical fate displayed impairments in the ability to self-form into neural rosettes. In addition, autism-iPSCs demonstrated significant differences in rate of cell type assignment of cortical precursors, and dorsal and ventral forebrain precursors. These cellular phenotypes occurred in the absence of alterations in cell proliferation during cortical differentiation, differing from previous studies. Acquisition of cell fate during midbrain differentiation was not different between control- and autism-iPSCs. ConclusionsTaken together, our data indicate that autism-iPSCs diverge from control-iPSCs at a cellular level during early stage of neurodevelopment. This suggests that unique developmental differences associated with autism may be established at early prenatal stages.

neuroscience