Comparison of Internal and Total Optical Aberrations for 2 Aberrometers: iTrace and OPD Scan

PURPOSE: To compare and evaluate the total and internal aberrations measured by two aberrometers: the laser ray tracing aberrometer (iTrace, Tracey Technology) and the automatic retinoscope aberrometer (OPD Scan, Nidek). METHODS: A total of 54 healthy eyes were enrolled in the study. Following pupil dilation, aberrations were measured with the iTrace and OPD Scan. We compared the aberrations obtained from measurements obtained at pupillary diameters of 4 mm and 6 mm with the OPD Scan and iTrace. Aberrations of internal optics and total aberrations were compared for the two aberrometers. For each aberrometer and each eye, the averaged Zernike data were used to calculate various root-mean-square (RMS) data. These parameters, together with the refractive parameters, were then analyzed and complimented by paired t-tests. RESULTS: At a pupil diameter of 4 mm, the number of total aberrations in the entire eye showed significant differences for the mean values of spherical aberrations (Z4,0) obtained with the OPD Scan and iTrace aberrometers (p=0.001). Aberrations of the internal optics showed significant differences in the mean values of total RMS, coma (Z3,-1), and trefoil (Z3,3) between the iTrace and OPD Scan (p<0.001, p=0.01, p<0.001) for the same pupil diameter of 4 mm. At a pupil diameter of 6 mm, the two instruments showed a similar number of total aberrations. Aberrations of the internal optics showed significant differences in the mean values of total RMS, spherical aberration (Z4,0), and coma (Z3,-1) between the two devices (p<0.001, p=0.01, p<0.001). CONCLUSIONS: The iTrace and OPD Scan showed the largest number of differences for aberrations of internal optics rather than total aberrations for both pupil diameters. These results suggest that in healthy eyes, the two aberrometers may vary in some details. The aberrometers showed more agreement at a pupil diameter of 6 mm compared to 4 mmope

A Novel BEST1 Mutation in Autosomal Recessive Bestrophinopathy

Citation: Lee CS, Jun I, Choi S, et al. A novel BEST1 mutation in autosomal recessive bestrophinopathy. Invest Ophthalmol Vis Sci. 2015;56:8141-8150. DOI:10.1167/iovs.15-18168 PURPOSE. To describe the clinical characteristics associated with a newly identified mutant of autosomal recessive bestrophinopathy (ARB) and confirm the associated physiological functional defects. METHODS. Two patients with ARB from one family underwent a full ophthalmic examination, including dilated fundus examination, fundus photography, fluorescein angiography, fundus autofluorescence imaging, spectral-domain optical coherence tomography (OCT), electroretinography (ERG), and electrooculography (EOG). Subsequently, genetic analysis for bestrophin-1 (BEST1) mutations was conducted through direct Sanger sequencing. The effect of ARB-associated mutations of BEST1 on the cellular localization was determined by in vitro experiments. Whole-cell patch clamping was conducted to measure the chloride conductance of wild-type BEST1 and the identified BEST1 mutants in transfected HEK293T cells. RESULTS. Two related patients (66-year-old brother and 52-year-old sister) presented with reduced visual acuity and bilateral symmetrical subretinal deposits of hyperautofluorescent materials in the posterior pole. Spectral-domain OCT showed macular thinning with submacular fluid. The female patient had a concomitant macular edema associated with branched retinal vein occlusion in the left eye, which responded well to intravitreal bevacizumab injections. Genetic analysis demonstrated that both patients were compound heterozygous for one novel (Leu40Pro) and one previously identified (Ala195Val) BEST1 variant. HEK293T cells transfected with the identified BEST1 mutant showed significantly small currents compared to those transfected with the wild-type gene, whereas cells cotransfected with mutant and wild-type BEST1 showed good chloride conductance. Cellular localization of BEST1 was well conserved to the plasma membrane in the mutants. CONCLUSIONS. We have identified and described the phenotype and in vitro functional aspects of a new BEST1 mutation causing ARB. Clinically suspected ARB cases warrant genetic confirmation to confirm the diagnosis

Delayed Epithelial Ingrowth Caused by Viral Conjunctivitis after LASIK

To report a patient who presented with epithelial ingrowth caused by viral keratoconjunctivitis 3 months after LASIK surgery. A 41-year-old man presented with decreased visual acuity in the right eye, which had developed about 3 weeks before. He had undergone LASIK surgery 3 months prior without complications. Two months after the surgery, he was treated for viral conjunctivitis. During the treatment period, filamentary keratitis developed, and a therapeutic bandage contact lens was applied for 2 weeks. Upon presentation, examination revealed a corrected visual acuity of 20/100 and irregular epithelial sheets under the edematous flap. The flap was lifted, and the in-grown epithelium was removed. The flap was repositioned with double continuous 10 - 0 nylon sutures. Post-operatively, the patient developed a mild diffuse lamellar keratitis that resolved rapidly with topical corticosteroid treatment. At 2 months, the corrected visual acuity was 20/20 without interface opacities. As the patient showed no complications prior to viral conjunctivitis, we suspect that the viral infection caused edema of the corneal flap, which caused epithelial ingrowth under the flap. Patients who have viral conjunctivitis after LASIK surgery should be examined carefully and managed with consideration of flap complications

Seborrheic Keratosis of the Conjunctiva: A Case Report

Seborrheic keratosis is a benign epithelial neoplasia that occurs mainly in the skin of the eyelids and face. We describe a case of seborrheic keratosis of the conjunctiva confirmed by histopathology. A 72-year-old man presented with a recurrent conjunctival mass involving the nasal side of his right eye. Clinically, a diagnosis of conjunctival papilloma was made, and a mass excision was performed. The histopathological analysis evidenced a conjunctival-covering epithelium with papillomatous changes and irregular acanthosis, at the expense of a proliferation of basaloid cells. In addition, the lesion exhibited multiple pseudohorn cysts containing keratin. With the above findings, a diagnosis of conjunctival seborrheic keratosis was established. The occurrence of seborrheic keratosis on the conjunctiva is rare. In this case, seborrheic keratosis was confirmed by pathologic report despite its similar appearance with papilloma. Seborrheic keratosis should be considered in the differential diagnosis of conjunctival lesions

Three Cases of Descemet's Membrane Detachment after Cataract Surgery

Descemet's membrane detachment (DMD) is an uncommon condition with a wide range of etiologies. More than likely, the most common cause is a localized detachment occurring after cataract surgery. We report three cases of Descemet's membrane detachment that occurred after uncomplicated phacoemulsification cataract surgeries. The first patient was managed without surgical intervention, the second patient was treated using an intracameral air injection, and the last patient was treated with an intracameral perfluoropropane (C3F8) gas injection. All three patients recovered their vision following the reattachment of Descemet's membrane. The three patients were treated according to the extent of the detachment

IGF-1 Counteracts TGF-β-Mediated Enhancement of Fibronectin for in Vitro Human Lens Epithelial Cells

PURPOSE: To determine whether insulin-like growth factor (IGF-1) affects transforming growth factor (TGF-beta)- mediated fibronectin accumulation in human lens epithelial cell line (HLE B-3) cells. MATERIALS AND METHODS: HLE B-3 cells were incubated for 24 hours with TGF-beta (10 ng/ mL), IGF-1 (10 ng/mL), or both. Expression of the fibronectin gene was determined using a real-time reverse transcriptase-polymerase chain reaction (RT-PCR). Fibronectin levels were examined using western blot analysis and immunofluorescence staining. RESULTS: Expression of the fibronectin gene was not different between the TGF-beta/IGF-1 treated group and the TGF-beta treated group (p= 0.116). However, western blot analysis demonstrated decreased fibronectin levels in human lens epithelial cells treated with TGF-beta and IGF-1 compared to those treated with TGF-beta only (p < 0.01). Immunofluorescence staining disclosed inhibition of TGF-beta-induced fibronectin in the presence of IGF-1. CONCLUSION: This study suggests that IGF-1 counteracts TGF-beta-mediated fibronectin accumulation in human lens epithelial cells.ope

Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis

Publisher Copyright: © 2022, The Author(s).Background: Genetic variants within nearly 1000 loci are known to contribute to modulation of blood lipid levels. However, the biological pathways underlying these associations are frequently unknown, limiting understanding of these findings and hindering downstream translational efforts such as drug target discovery. Results: To expand our understanding of the underlying biological pathways and mechanisms controlling blood lipid levels, we leverage a large multi-ancestry meta-analysis (N = 1,654,960) of blood lipids to prioritize putative causal genes for 2286 lipid associations using six gene prediction approaches. Using phenome-wide association (PheWAS) scans, we identify relationships of genetically predicted lipid levels to other diseases and conditions. We confirm known pleiotropic associations with cardiovascular phenotypes and determine novel associations, notably with cholelithiasis risk. We perform sex-stratified GWAS meta-analysis of lipid levels and show that 3–5% of autosomal lipid-associated loci demonstrate sex-biased effects. Finally, we report 21 novel lipid loci identified on the X chromosome. Many of the sex-biased autosomal and X chromosome lipid loci show pleiotropic associations with sex hormones, emphasizing the role of hormone regulation in lipid metabolism. Conclusions: Taken together, our findings provide insights into the biological mechanisms through which associated variants lead to altered lipid levels and potentially cardiovascular disease risk.Peer reviewe