Exfoliation syndrome (XFS) is the commonest recognizable cause of open angle glaucoma world-wide. To better understand the etiology of XFS, we conducted a genome-wide association study (GWAS) on 1,484 patients and 1,188 controls from Japan, and followed up the most significant findings on a further 6,901 patients and 20,727 controls from 17 countries across 6 continents. We discovered a significant association between a new locus (CACNA1A rs4926244) and increased susceptibility to XFS (Odds ratio [OR] = 1.16, P = 3.36 × 10−11). Although overwhelming association at the LOXL1 locus was confirmed, the key SNP marker (LOXL1 rs4886776) demonstrated allelic reversal depending on ethnic grouping (In Japanese: ORA-allele= 9.87, P = 2.13 × 10−217; In non-Japanese: ORA-allele= 0.49, P = 2.35 × 10−31). Our findings represent the first genetic locus outside of LOXL1 which surpasses genome-wide significance for XFS, and provides insight into the biology and pathogenesis of the disease.
Primary vitreoretinal lymphoma (PVRL) is a rare and potentially fatal intraocular malignancy. More than half of PVRL cases eventually involve the central nervous system (CNS). PVRL frequently masquerades as chronic uveitis. Advanced imaging tests, such as optical coherence tomography and fundus autofluorescence, have been applied in the diagnosis of PVRL. Histology and immunohistochemistry, in combination with molecular tests and IL-10 analysis, have been demonstrated as reliable in diagnosing PVRL. Mortality is high in patients with PVRL associated with CNS involvement, and relapses are common. The use of systemic chemotherapy in addition to the local therapies has proved to extend the mean survival time of these patients. Local therapies, including intravitreal injections of methotrexate and/or rituximab and low-dose radiotherapy to the eye, have been shown to be extremely effective in controlling intraocular lymphoma.
Purpose:To study the utility and predictive ability of newer macular hole (MH) indices for closure following surgery.Methods:In this retrospective study, pre- and post-operative optical coherence tomography images of 49 eyes with idiopathic full-thickness MH were reviewed and analysed. Various quantitative parameters of MH like maximum outer diameter (OD), minimum diameter between edges, height, nasal and temporal arm lengths, macular hole angle were noted. Indices including hole form factor, Macular Hole Index, (MHI), Diameter Hole Index (DHI) and Tractional Hole Index (THI) were calculated. Newer area indices like macular hole area index (MAI), cystoid space area index (MCSAI) and tissue area index (MTAI) were calculated using Image J (Ver. 1.51). Receiver operating characteristic (ROC) curves and cut-off values were derived for indices predicting type 1 or type 2 closure. Stepwise regression analysis and binary logistic regression analysis were carried out to predict the chances of hole closure.Results:ROC curve analysis showed indices like MHI, THI and MCSAI were capable of successfully predicting type 1 closure while OD, DHI and MAI predicted type 2 closure. On stepwise regression analysis, MAI was identified as the most important index in predicting the type of hole closure. Using the binary logistic regression analysis, the predictive ability of the model to identify success or failure following MH surgery was 89.7% and 80% respectively.Conclusion:MAI measurement could be used as a single important index in predicting hole closure in idiopathic MH. Further research is required to study this area index in detail.
Purpose: Torpedo lesions in the retina are rare. This study aimed to investigate torpedoshaped lesions in the retina in an adult population and to determine the spectrum and features of the disease. Methods: The review of a database for clinical diagnosis identified nine patients who were diagnosed with torpedo-shaped lesions in the retina between June 2017 and February 2019. Fundus photography and optical coherence tomography (OCT) imaging were used to analyze the cases. Multicolor imaging was also performed. Results: Nine patients with torpedo-shaped lesions in the fundus were identified. Fundus images revealed that the lesion involved the macula in six eyes; in the remaining three eyes, the lesion was present outside the macula. OCT identified six patients with type 1 torpedo lesions, one with type 2, and two with type 3. On multicolor imaging, the lesion was visualized as a region of increased reflectance in blue, green, and infrared light in all eyes, with notably increased infrared reflectance in eyes with focal choroidal excavation. Choroidal neovascular membrane was evident in one patient on OCT angiography. Conclusion: Torpedo lesions in the retina can occur away from the macula and exhibit features similar to those of torpedo maculopathy. As such, the authors propose a change in the nomenclature for torpedo lesions in the retina from “torpedo maculopathy” to “torpedo retinopathy.”
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