Vision-Sciences, Inc.

Abstract: Recent substantial developments in light source and detector technology have initiated a paradigm shift in retinal optical coherence tomography (OCT) performance. Broad bandwidth light sources in the 800 nm and 1060 nm wavelength region enable axial OCT resolutions of 2-3 mum and 5-7 mum, respectively. Novel high speed silicon based CMOS cameras at 800 nm and InGaAs based CCD cameras in combination with frequency domain OCT technology enable data acquisition speeds of up to 47,000 A-scans/s at 1060 nm and up to 312,500 A-scans/s at 800 nm. Combining ultrahigh axial resolution, ultrahigh speed OCT at 800 nm with pancorrected adaptive optics allows volumetric in vivo cellular resolution retinal imaging. Commercially available three-dimensional (3D) retinal OCT at 800 nm (20,000 A-scans/s, 6 mum axial resolution) is compared to ultrahigh speed 3D retinal imaging at 800 nm (160,000 A-scans/s, 2-3 mum axial resolution), high speed 3D choroidal imaging at 1060 nm (47,000 Ascan/ second, 6-7 mum axial resolution) and cellular resolution retinal imaging at 800 nm using adaptive optics OCT at 160,000 A-scans/second with isotropic resolution of ~2 mum. Analysis of the performance of these four imaging modalities applied in normal and pathologic eyes focusing on motion artifact free volumetric retinal imaging and revealing novel, complementary morphological information due to enhanced resolution, speed and penetration is presented.

Abstract: The integrity of the pre-lens tear film (PLTF) is an important determinant of the clinical performance of contact lenses. The PLTF of eight hydrogel lenses, ranging from 36.5% to 85% water content, was assessed on six asymptomatic lens wearers in a randomized, double-masked experiment. Using a specular reflection technique, the thicknesses of the lipid and aqueous phases were found to be greater on lenses of higher water content. Water content was measured before and after 90 min wear using a hand-held refractometer. Non-invasive tear break-up time was also found to be greater for higher water content lenses. No association was found between lens dehydration and PLTF characteristics. The differences in PLTF noted in this study may help to explain the differences noted between some lenses in their rates of surface deposition.

Abstract: Background Bardet–Biedl syndrome is a pleiotropic disorder with 14 BBS genes identified. BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, and BBS9 form a complex called the BBSome, which is believed to recruit Rab8 GTP to the primary cilium and promote ciliogenesis. The second group, the chaperonin-like proteins BBS6, BBS10, and BBS12, have been defined as a vertebrate-specific branch of the type II chaperonin superfamily. These may play a role in the regulation of BBSome assembly. Methods and results Using sequence analysis, the role of BBS6, 10 and 12 was assessed in the patient population comprising 93 cases from 74 families. Systemic and ocular phenotypes were defined. In the study, chaperonin-like BBS gene mutations accounted for the disease in approximately 36.5% of BBS families. A total of 38 different non-polymorphic exonic sequence variants were identified in 40.5% of BBS families (41.9% cases), of which 26 were novel (68%). Six cases had mutations present in more than one chaperonin-like BBS gene. One case with four mutations in BBS10 had a phenotype of overall greater severity. The phenotypes observed were beyond the classic BBS phenotype as they overlapped with characteristics of MKKS (congenital heart defect, vaginal atresia, hydrometrocolpos, cryptorchidism), as well as Alstrom syndrome (diabetes, hearing loss, liver abnormalities, endocrine anomalies, cardiomyopathy). Conclusions While overlap between the MKKS and BBS phenotypes has previously been reported for cases with BBS6 mutations, we also observed MKKS phenotypes involving BBS10 and BBS12 and Alstrom-like phenotypes associated with mutations in BBS1 , BBS2 , BBS6 , BBS7 , BBS9 , BBS10 and BBS12 for the first time.