Background: Age-related macular degeneration (AMD) is the leading cause of blindness in the elderly individuals. The etiology of AMD includes environmental and genetic factors.
Methods: We aimed to determine the association between CETP (rs5882; rs708272; rs3764261; rs1800775; rs2303790), AGER (rs1800624; rs1800625), and CYP4F2 (rs1558139) gene polymorphisms and development of atrophic AMD. About 52 patients with atrophic AMD and 800 healthy control subjects were evaluated. The genotyping of single-nucleotide polymorphisms in CETP, AGER, and CYP4F2 was carried out using the real-time-PCR method.
Results: Genetic risk models in the analysis of CETP rs5882 revealed statistically significant variables with increased risk of atrophic AMD in the codominant (p < .001), dominant (p < .001), recessive (p < .001), and additive (p < .001) models with the highest 25.4-fold increased risk of atrophic AMD in the codominant model (p < .001). The AGER rs1800625 was associated with a highly increased risk of atrophic AMD in the codominant (p < .001), recessive (p < .001), and additive (p < .001) genetic models.
Conclusion: We identified two polymorphisms with a higher risk of atrophic AMD (CETP rs5882 and AGER rs1800625).
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http://dx.doi.org/10.1002/mgg3.1357 | DOI Listing |
Stem Cells Transl Med
December 2024
NEI/OSCTRS/OGVFB, Bethesda, MD, United States.
Retinal pigment epithelium (RPE) atrophy is a significant cause of human blindness worldwide, occurring in polygenic diseases such as age-related macular degeneration (AMD) and monogenic diseases such as Stargardt diseases (STGD1) and late-onset retinal degeneration (L-ORD). The patient-induced pluripotent stem cells (iPSCs)-derived RPE (iRPE) model exhibits many advantages in understanding the cellular basis of pathological mechanisms of RPE atrophy. The iRPE model is based on iPSC-derived functionally mature and polarized RPE cells that reproduce several features of native RPE cells, such as phagocytosis of photoreceptor outer segments (POS) and replenishment of visual pigment.
View Article and Find Full Text PDFJ Pers Med
November 2024
Department of Translational Biomedicine Neuroscience, University of Bari "Aldo Moro", 70124 Bari, Italy.
The smaller-incision new-generation implantable miniature telescope (SING IMT) represents an advancement over the previous model, WA-IMT, serving as a unilateral prosthetic device for patients with late-stage age-related macular degeneration (AMD). This study aims to report changes in multifocal electroretinography (mfERG) 6 months post-SING IMT implantation. In this case series, we prospectively evaluated a cohort of phakic patients with late-stage AMD who underwent SING IMT implantation at the Ophthalmology Unit, University of Bari Aldo Moro, Italy.
View Article and Find Full Text PDFPharmacol Res Perspect
February 2025
Hamamatsu Pharma Research, Inc., Hamamatsu, Shizuoka, Japan.
The lack of effective treatments for dry age-related macular degeneration (AMD) is in part due to a lack of a preclinical animal model that recapitulates features of the clinical state including macular retinal pigment epithelium (RPE) degeneration, also known as geographic atrophy (GA). A nonhuman primate model of GA was developed and its responsiveness to an approved treatment, avacincaptad pegol (ACP), a complement C5 inhibitor, was evaluated. Intravitreal (ivt) administration of sodium iodate (SI) into one eye of male Macaca fascicularis leads to retinal areas (mm) of hyper- or hypo-autofluorescence.
View Article and Find Full Text PDFClin Ophthalmol
December 2024
Department of Ophthalmology, Acuity Eye Group, Pasadena, CA, USA.
Purpose: To study the effects of anti-VEGF injections on the prevalence of ocular hypertension (OHT), sustained elevated intraocular pressure (SE-IOP), and primary open-angle glaucoma (POAG) with age-matched controls.
Methods: A retrospective case-control study was performed with neovascular age-related macular degeneration (AMD) or diabetic macular edema (DME) against a control group involving atrophic AMD or diabetic retinopathy (DR) without DME. Bevacizumab, ranibizumab, or a combination of both were used in the treatment group.
Int Ophthalmol Clin
January 2025
Department of Ophthalmology, Cullen Eye Institute, Baylor College of Medicine, Houston, Texas.
Age-related macular degeneration (AMD) is a chronic condition that causes gradual central vision loss, most commonly in patients 50 years or older. This disease is commonly classified as either dry (non-exudative) or wet (exudative). Most patients with AMD have the non-exudative form, characterized by the presence of drusen in the macula.
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