METHODS: A cross-sectional study was conducted in Hospital Universiti Sains Malaysia, Kelantan from November 2013 till May 2016 among Type 2 DM patients (DM with no DR and DM with NPDR). The patients were evaluated for anterior ocular segment biometry [central corneal thickness (CCT), anterior chamber width (ACW), angle opening distance (AOD) and anterior chamber angle (ACA)] by using Anterior Segment Optical Coherence Tomography (AS-OCT). Three ml venous blood was taken for the measurement of HbA1c.
RESULTS: A total of 150 patients were included in this study (DM with no DR: 50 patients, DM with NPDR: 50 patients, non DM: 50 patients as a control group). The mean CCT and ACW showed significant difference among the three groups (p < 0.001 and p = 0.015 respectively). Based on post hoc result, there were significant mean difference of CCT between non DM and DM with NPDR (mean difference 36.14 μm, p < 0.001) and also between non DM and DM with no DR (mean difference 31.48 μm, p = 0.003). The ACW was significantly narrower in DM with NPDR (11.39 mm SD 0.62) compared to DM with no DR (11.76 mm SD 0.53) (p = 0.012). There were no significant correlation between HbA1c and all the anterior ocular segment biometry.
CONCLUSION: Diabetic patients have significantly thicker CCT regardless of retinopathy status whereas ACW was significantly narrower in DM with NPDR group compared to DM with no DR. There was no significant correlations between HbA1c and all anterior ocular segment biometry in diabetic patients regardless of DR status.
METHODS: We utilized a combination of chromosome microarray, exome sequencing, and genome sequencing with structural variant and trio analysis to investigate a cohort of 41 predominantly sporadic cases.
RESULTS: We identified likely causative variants in 54% (22/41) of cases, including 51% (19/37) of sporadic cases and 75% (3/4) of cases initially referred as familial ASD. Two-thirds of sporadic cases were found to have heterozygous variants, which in most cases were de novo. Approximately one-third (7/22) of genetic diagnoses were found in rarely reported or recently identified ASD genes including PXDN, GJA8, COL4A1, ITPR1, CPAMD8, as well as the new phenotypic association of Axenfeld-Rieger anomaly with a homozygous ADAMTS17 variant. The remainder of the variants were in key ASD genes including FOXC1, PITX2, CYP1B1, FOXE3, and PAX6.
CONCLUSIONS: We demonstrate the benefit of detailed phenotypic, genomic, variant, and segregation analysis to uncover some of the previously "hidden" heritable answers in several rarely reported and newly identified ocular ASD-related disease genes.