Macular atrophy and focal choroidal excavation in a patient with < em > JAG1 < /em > - related alagille syndrome
CONCLUSION: The presence of FCE in AGS is uncommon, and the underlying mechanisms remain unclear. Further exploration of similar cases is necessary to better understand the evolution and visual prognosis in patients with AGS and FCE.PMID:38526149 | DOI:10.1080/13816810.2024.2303786 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - March 25, 2024 Category: Opthalmology Authors: Diego Ruiz-Chavolla Tania Barrag án-Arévalo Daniel Cortes-Mu ñoz Jhoana S ánchez-Ruiz Juan Carlos Zenteno Gerardo Ledesma-Gil Source Type: research
Genetic factors associated with age-related macular degeneration modulating plasma inflammatory biomarker levels in patients with AIDS
CONCLUSIONS: Genetic variants in AMD-associated immune genes may influence AMD-associated systemic plasma inflammatory biomarker levels in patients with AIDS.PMID:38526161 | DOI:10.1080/13816810.2024.2330380 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - March 25, 2024 Category: Opthalmology Authors: Efe Sezgin Michael F Schneider Peter W Hunt Gabriele Beck-Engeser Gabriele C Ambayac Douglas A Jabs Source Type: research
Haplotype-based association study of TCF7L2 gene variants with the development of diabetic retinopathy in an Iranian population
CONCLUSION: In conclusion, there was no significant genetic association between rs7903146, rs11196205, and rs12255372 with DR among T2DM Iranians; however, these variants may play unknown roles in other populations.PMID:38514248 | DOI:10.1080/13816810.2024.2318611 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - March 21, 2024 Category: Opthalmology Authors: Leila Alidoust Alireza Sharafshah Parvaneh Keshavarz Source Type: research
Heterozygous Pyrin (MEFV) E148Q allele carriers indicate a reduced glaucoma risk for Turkish population: a prospective clinical analysis
CONCLUSION: The pyrin variant of the MEFV gene resulting in a subclinical phenotype appears to reduce the incidence of glaucoma, and heterozygous pyrin (MEFV) E148Q allele carriers confer protection against glaucoma. It is important to consider the limitations arising from the relatively small number of studies conducted on this topic.PMID:38482581 | DOI:10.1080/13816810.2024.2324362 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - March 14, 2024 Category: Opthalmology Authors: Orkun Muhsinoglu Ibrahim Akalin Remzi Karadag Sarenur Yilmaz Huseyin Bayramlar James D Nicholson Source Type: research
Structural and functional characterization of an individual with the M285R < em > KCNV2 < /em > hypomorphic allele
CONCLUSIONS: We provide functional and structural evidence that the variant M285R is disease-causing if associated with a loss-of-function variant. To the best of our knowledge, this is the first hypomorphic allele reported in KCNV2.PMID:38454848 | DOI:10.1080/13816810.2024.2324046 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - March 8, 2024 Category: Opthalmology Authors: Thales A C de Guimaraes Francesco Lai Raffaella Colombatti Giovanni Sato Roberta Rizzo Angelos Kalitzeos Michel Michaelides Source Type: research
