Mutational spectrum and deep phenotyping in Pseudoxanthoma Elasticum: Findings from a Portuguese cohort
CONCLUSIONS: This study describes the genetic spectrum of patients with PXE for the first time in a Portuguese cohort. A total of 16 different variants in ABCC6 were found (7 of which are novel), thus highlighting the genotypic heterogeneity associated with this condition and expanding its mutational spectrum. Still, no major genotype-phenotype associations could be established.PMID:38602027 | DOI:10.1177/11206721241247676 (Source: European Journal of Ophthalmology)
Source: European Journal of Ophthalmology - April 11, 2024 Category: Opthalmology Authors: Margarida Q Dias Nuno Gouveia Raquel F élix S érgio Estrela-Silva Diogo Cabral Ana Lu ísa Carvalho Joaquim Murta Rufino Silva Jo ão Pedro Marques Source Type: research
Atypical phacolytic glaucoma diagnosed by biometry and anterior segment optical coherence tomography (OCT) in a patient with CMV anterior uveitis
CONCLUSION: This is the first time that we image and document the phacolytic nature of a natural lens. Our patient did not have the typical clinical presentation and was differentially diagnosed with biometry SS-OCT and confirmed by anterior segment SD-OCT.PMID:38602030 | DOI:10.1177/11206721241246816 (Source: European Journal of Ophthalmology)
Source: European Journal of Ophthalmology - April 11, 2024 Category: Opthalmology Authors: Efthymios Karmiris Evangelia Papakonstantinou Konstantinos Tsiripidis Panagiotis Stavrakas Ioannis Giannakis Evangelia Chalkiadaki Source Type: research
Worsening of early DME after cataract surgery. The DICAT II Study report #2
CONCLUSION: The study provides parameters to be considered when assessing the risk of developing persistent DME after cataract surgery in diabetic patients. In particular, CFT at baseline and dropout time have been reported to be an effective and predictable OCT biomarkers when evaluating DME progression. During the evaluation of the systemic disease, similar results were found for the glycated hemoglobin at baseline.PMID:38576315 | DOI:10.1177/11206721241245743 (Source: European Journal of Ophthalmology)
Source: European Journal of Ophthalmology - April 5, 2024 Category: Opthalmology Authors: Marco R Pastore Alex Lucia Vinciguerra Giulia Dalla Mura Abdallah El Jabali Daniele Tognetto Giacomo Panozzo Source Type: research
Worsening of early DME after cataract surgery. The DICAT II Study report #2
CONCLUSION: The study provides parameters to be considered when assessing the risk of developing persistent DME after cataract surgery in diabetic patients. In particular, CFT at baseline and dropout time have been reported to be an effective and predictable OCT biomarkers when evaluating DME progression. During the evaluation of the systemic disease, similar results were found for the glycated hemoglobin at baseline.PMID:38576315 | DOI:10.1177/11206721241245743 (Source: European Journal of Ophthalmology)
Source: European Journal of Ophthalmology - April 5, 2024 Category: Opthalmology Authors: Marco R Pastore Alex Lucia Vinciguerra Giulia Dalla Mura Abdallah El Jabali Daniele Tognetto Giacomo Panozzo Source Type: research
Worsening of early DME after cataract surgery. The DICAT II Study report #2
CONCLUSION: The study provides parameters to be considered when assessing the risk of developing persistent DME after cataract surgery in diabetic patients. In particular, CFT at baseline and dropout time have been reported to be an effective and predictable OCT biomarkers when evaluating DME progression. During the evaluation of the systemic disease, similar results were found for the glycated hemoglobin at baseline.PMID:38576315 | DOI:10.1177/11206721241245743 (Source: European Journal of Ophthalmology)
Source: European Journal of Ophthalmology - April 5, 2024 Category: Opthalmology Authors: Marco R Pastore Alex Lucia Vinciguerra Giulia Dalla Mura Abdallah El Jabali Daniele Tognetto Giacomo Panozzo Source Type: research
Worsening of early DME after cataract surgery. The DICAT II Study report #2
CONCLUSION: The study provides parameters to be considered when assessing the risk of developing persistent DME after cataract surgery in diabetic patients. In particular, CFT at baseline and dropout time have been reported to be an effective and predictable OCT biomarkers when evaluating DME progression. During the evaluation of the systemic disease, similar results were found for the glycated hemoglobin at baseline.PMID:38576315 | DOI:10.1177/11206721241245743 (Source: European Journal of Ophthalmology)
Source: European Journal of Ophthalmology - April 5, 2024 Category: Opthalmology Authors: Marco R Pastore Alex Lucia Vinciguerra Giulia Dalla Mura Abdallah El Jabali Daniele Tognetto Giacomo Panozzo Source Type: research
Worsening of early DME after cataract surgery. The DICAT II Study report #2
CONCLUSION: The study provides parameters to be considered when assessing the risk of developing persistent DME after cataract surgery in diabetic patients. In particular, CFT at baseline and dropout time have been reported to be an effective and predictable OCT biomarkers when evaluating DME progression. During the evaluation of the systemic disease, similar results were found for the glycated hemoglobin at baseline.PMID:38576315 | DOI:10.1177/11206721241245743 (Source: European Journal of Ophthalmology)
Source: European Journal of Ophthalmology - April 5, 2024 Category: Opthalmology Authors: Marco R Pastore Alex Lucia Vinciguerra Giulia Dalla Mura Abdallah El Jabali Daniele Tognetto Giacomo Panozzo Source Type: research
Multimodal imaging in deferasirox-mediated retinopathy
CONCLUSIONS: Retinal examinations should be considered for patients requiring chronic administration of deferasirox.PMID:38562036 | DOI:10.1177/11206721241245740 (Source: European Journal of Ophthalmology)
Source: European Journal of Ophthalmology - April 2, 2024 Category: Opthalmology Authors: Jonathan Caranfa William Carrera Anna Marmalidou Shilpa Desai Caroline Baumal Source Type: research
Multimodal imaging in deferasirox-mediated retinopathy
CONCLUSIONS: Retinal examinations should be considered for patients requiring chronic administration of deferasirox.PMID:38562036 | DOI:10.1177/11206721241245740 (Source: European Journal of Ophthalmology)
Source: European Journal of Ophthalmology - April 2, 2024 Category: Opthalmology Authors: Jonathan Caranfa William Carrera Anna Marmalidou Shilpa Desai Caroline Baumal Source Type: research
Multimodal imaging in deferasirox-mediated retinopathy
CONCLUSIONS: Retinal examinations should be considered for patients requiring chronic administration of deferasirox.PMID:38562036 | DOI:10.1177/11206721241245740 (Source: European Journal of Ophthalmology)
Source: European Journal of Ophthalmology - April 2, 2024 Category: Opthalmology Authors: Jonathan Caranfa William Carrera Anna Marmalidou Shilpa Desai Caroline Baumal Source Type: research
Quantifying cardiac dysfunction and valvular heart disease associated with subretinal drusenoid deposits in age-related macular degeneration
CONCLUSIONS: Several specific VHDs have been found associated with the SDD form of AMD. Decreased systemic perfusion as measured by CI was also associated with SDDs, which supports a perfusion hypothesis of SDD pathogenesis. Further research is warranted to understand the relationship between cardiovascular disease and SDDs.PMID:38545630 | DOI:10.1177/11206721241244413 (Source: European Journal of Ophthalmology)
Source: European Journal of Ophthalmology - March 28, 2024 Category: Opthalmology Authors: Yang Fei Jason J Jo Sophie Chen Gerardo Ledesma-Gil Oscar Otero-Marquez Emanuel Mordechav Brandon Le Yuehong Tong Katy Tai Gareth Lema Richard B Rosen Vikram Vedprakash Agarwal Roland Theodore Smith Source Type: research
Novel compound heterozygous variants in < em > LTBP2 < /em > associated with relative anterior microphthalmos
CONCLUSION: To our knowledge, this is the first study to report novel LTBP2 gene variants related to RAM. Considering the importance of LTBP2 in ocular development, we provide initial insights into the potential pathogenic mechanisms of LTBP2 in RAM.PMID:38545692 | DOI:10.1177/11206721241240503 (Source: European Journal of Ophthalmology)
Source: European Journal of Ophthalmology - March 28, 2024 Category: Opthalmology Authors: Peimin Lin Jie Xu Ao Miao Yi Lu Yongxiang Jiang Tianyu Zheng Source Type: research
Quantifying cardiac dysfunction and valvular heart disease associated with subretinal drusenoid deposits in age-related macular degeneration
CONCLUSIONS: Several specific VHDs have been found associated with the SDD form of AMD. Decreased systemic perfusion as measured by CI was also associated with SDDs, which supports a perfusion hypothesis of SDD pathogenesis. Further research is warranted to understand the relationship between cardiovascular disease and SDDs.PMID:38545630 | DOI:10.1177/11206721241244413 (Source: European Journal of Ophthalmology)
Source: European Journal of Ophthalmology - March 28, 2024 Category: Opthalmology Authors: Yang Fei Jason J Jo Sophie Chen Gerardo Ledesma-Gil Oscar Otero-Marquez Emanuel Mordechav Brandon Le Yuehong Tong Katy Tai Gareth Lema Richard B Rosen Vikram Vedprakash Agarwal Roland Theodore Smith Source Type: research
Novel compound heterozygous variants in < em > LTBP2 < /em > associated with relative anterior microphthalmos
CONCLUSION: To our knowledge, this is the first study to report novel LTBP2 gene variants related to RAM. Considering the importance of LTBP2 in ocular development, we provide initial insights into the potential pathogenic mechanisms of LTBP2 in RAM.PMID:38545692 | DOI:10.1177/11206721241240503 (Source: European Journal of Ophthalmology)
Source: European Journal of Ophthalmology - March 28, 2024 Category: Opthalmology Authors: Peimin Lin Jie Xu Ao Miao Yi Lu Yongxiang Jiang Tianyu Zheng Source Type: research
Quantifying cardiac dysfunction and valvular heart disease associated with subretinal drusenoid deposits in age-related macular degeneration
CONCLUSIONS: Several specific VHDs have been found associated with the SDD form of AMD. Decreased systemic perfusion as measured by CI was also associated with SDDs, which supports a perfusion hypothesis of SDD pathogenesis. Further research is warranted to understand the relationship between cardiovascular disease and SDDs.PMID:38545630 | DOI:10.1177/11206721241244413 (Source: European Journal of Ophthalmology)
Source: European Journal of Ophthalmology - March 28, 2024 Category: Opthalmology Authors: Yang Fei Jason J Jo Sophie Chen Gerardo Ledesma-Gil Oscar Otero-Marquez Emanuel Mordechav Brandon Le Yuehong Tong Katy Tai Gareth Lema Richard B Rosen Vikram Vedprakash Agarwal Roland Theodore Smith Source Type: research
