Pseudo-vitelliform macular detachment and cuticular drusen: Exclusion of 6 candidate genes

Purpose: The etiology and genetic cause of pseudo-vitelliform macular detachment with cuticular drusen (PVMD/CD) are unknown; nor is it clear if this phenotype represents a separate disease entity, or is a sub-phenotype of disorders with overlapping clinical presentation. To answer this question, we screened a cohort of patients affected with PVMD/CD for variation in six plausible candidate genes (ABCA4, VMD2, TIMP-3, peripherin/RDS, fibulin 5 (FIBL5) and complement factor H (CFH)) associated with diseases of overlapping phenotypes. Methods: Twenty-eight patients, diagnosed with pseudo-vitelliform macular detachment and cuticular drusen, were evaluated by clinical examination, fundus photography, fluorescein angiography and autofluorescence imaging. DNA from all study subjects were screened for variants in the ABCA4, VMD2, TIMP-3, peripherin/RDS, FIBL5 and CFH genes by a combination of DHPLC, array screening and direct sequencing. Results: All patients presented with cuticular drusen; pseudo-vitelliform detachment was seen in 21 cases, while atrophic changes following regression of the detachment were seen in the remaining 7 subjects. Visual acuity ranged from 20/20 to CF. The screening revealed an I32V mutation in peripherin/RDS in one patient and 2ABCA4 variants, T897I and G1961E, in 2 more patients. No amino acid-altering variants were detected in VMD2, TIMP-3, and FIBL5 genes. The frequency of the CFH Y402H variant in this cohort corresponded to that detected in the general population. Conclusions: Screening of 6 candidate genes detected possibly disease-associated mutations in only 3/28 (10.7%) of patients presenting with PVMD/CD, eliminating these genes as causal for this phenotype. Copyright © Informa Healthcare USA, Inc

Baseline Predictors for Good Versus Poor Visual Outcomes in the Treatment of Neovascular Age-Related Macular Degeneration With Intravitreal Anti-VEGF Therapy

PURPOSE: To examine the baseline factors associated with good (20/60 or better) versus poor (20/200 or worse) visual outcomes in eyes with treatment-naïve neovascular age-related macular degeneration (AMD) receiving intravitreal antivascular endothelial growth factor (VEGF) on a treat-and-extend regimen (TER). METHODS: An observational, retrospective series of patients managed with a TER, identified as having either good or poor visual outcomes, was examined. A multivariate regression analysis of baseline characteristics identified factors associated with good and poor vision at 2, 3, and 4 years. Neovascular subtypes were identified using fluorescein angiography (FA) alone and the anatomic classification system with FA and optical coherence tomography (OCT). RESULTS: One hundred thirty-eight patients (154 eyes) fit the inclusion criteria at 2 years, 106 patients (113 eyes) at 3 years, and 72 patients (74 eyes) at 4 years. In the multivariate analysis, type 1 lesions, according to anatomic classification, had better vision at 24 months (95% CI: [3.1, 82.7], P = 0.01), 36 months (95% CI: [1.97, 24.17], P = 0.003), and 48 months (95% CI: [2.01, 65.47], P = 0.006). Clopidogrel use was associated with poor vision at 24 months (95% CI: [0.03, 0.68], P = 0.013). Vision at 3 months was the best predictor of vision at year 4 (β = -4.277, P = 0.002). CONCLUSIONS: Eyes with neovascular AMD managed with a TER of anti-VEGF therapy having type 1 neovascularization at baseline were more likely to maintain good vision over 4 years, whereas clopidogrel use predicted poor vision at 2 years. Vision at 3 months was the best predictor for favorable long-term vision

Clinical outcomes of 4-point scleral fixated 1-piece hydrophobic acrylic equiconvex intraocular lens using polytetrafluoroethylene suture

Nimesh A Patel, Parth Shah, Nicolas A Yannuzzi, Zubair Ansari, Jill S Zaveri, Nidhi Relhan, Basil K Williams Jr, Ajay E Kuriyan, Christopher R Henry, Jayanth Sridhar, Luis Haddock, Jorge A Fortun, Thomas A Albini, Janet L Davis, Harry W Flynn JrDepartment of Ophthalmology, Bascom Palmer Eye Institute, University of Miami, Miller School of Medicine, Miami, FL 33136, USA Purpose: To report the visual outcomes and complications of scleral fixated intraocular lenses (IOLs) using Gore-Tex suture.Methods: The current study is a retrospective noncomparative case series including patients who underwent scleral fixation of IOL (Akreos AO60) using Gore-Tex suture from August 2015 to March 2017 at a university teaching center. Primary outcome measures were visual acuity and complications at last follow-up.Results: The current study included 49 eyes of 48 patients. Mean follow-up duration postsurgery was 6.9 months (range: 0.9–29.4 months). The indications for secondary IOL surgery were dislocated IOL in 16/49 (33%), subluxed IOL in 9/49 (18%), dislocated or subluxed crystalline lens in 9/49 (18%), traumatic cataract in 8/49 (16%), and complicated cataract surgery in 7/49 (14%). Mean best-corrected logMAR visual acuity improved from 1±0.7 (20/200 Snellen equivalent) preoperatively to 0.5±0.5 (20/63 Snellen equivalent) at last follow-up. There were no intraoperative complications noted. Early postoperative complications included significant persistent corneal edema (longer than 1 week) in 4/49 (8.2%), ocular hypertension (intraocular pressure ≥25 mmHg) in 8/49 (16.3%), hypotony (intraocular pressure ≤5 mmHg) in 6/49 (12.2%), cystoid macular edema 3/21 (6.1%), IOL tilt 2/49 (4.1%), hyphema in 2/49 (4.1%), and vitreous hemorrhage in 5/49 (4.8%). There was one case of recurrent retinal detachment. One patient presented with an erosion of the Gore-Tex suture through the conjunctiva resulting in a purulent scleritis 6 months after the initial surgery, and was managed with removal of the IOL, debridement, and cryotherapy. Forty-one of 49 patients completed 3-month follow-up, among which visual acuity improved, deteriorated, or remained same compared to baseline in 27/49 (55.1%), 8/49 (16.3%), and 6/49 (12.2%) eyes, respectively.Conclusion: In the current study, visual acuity outcomes were generally favorable. The complications were largely transient. Significant complications included a suture-related infection, which required removal of the IOL, and a recurrence of a retinal detachment. Keywords: Gore-Tex, secondary intraocular lens, scleral fixation, clinical outcome

Multimodal Imaging of Punctate Outer Retinal Toxoplasmosis.

To describe the multimodal imaging characteristics associated with punctate outer retinal toxoplasmosis (PORT).info:eu-repo/semantics/publishe

Space ants: Constructing and reconfiguring large-scale structures with finite automata

© Amira Abdel-Rahman, Aaron T. Becker, Daniel E. Biediger, Kenneth C. Cheung, Sándor P. Fekete, Neil A. Gershenfeld, Sabrina Hugo, Benjamin Jenett, Phillip Keldenich, Eike Niehs, Christian Rieck, Arne Schmidt, Christian Scheffer, and Michael Yannuzzi; licensed under Creative Commons License CC-BY 36th International Symposium on Computational Geometry (SoCG 2020). In this video, we consider recognition and reconfiguration of lattice-based cellular structures by very simple robots with only basic functionality. The underlying motivation is the construction and modification of space facilities of enormous dimensions, where the combination of new materials with extremely simple robots promises structures of previously unthinkable size and flexibility. We present algorithmic methods that are able to detect and reconfigure arbitrary polyominoes, based on finite-state robots, while also preserving connectivity of a structure during reconfiguration. Specific results include methods for determining a bounding box, scaling a given arrangement, and adapting more general algorithms for transforming polyominoes