Steven Agemy
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View article: New Noncoding Base Pair Mutation at the Identical Locus as the Original NCMD/MCDR1 in a Mexican Family, Suggesting a Mutational Hotspot
New Noncoding Base Pair Mutation at the Identical Locus as the Original NCMD/MCDR1 in a Mexican Family, Suggesting a Mutational Hotspot Open
Purpose: To clinically and molecularly study a newly found family with North Carolina macular dystrophy (NCMD/MCDR1) from Mexico. Methods: This retrospective study comprised 6 members of a 3-generation Mexican family with NCMD. Clinical op…
View article: Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy
Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy Open
View article: Multi-omics profiling, <i>in vitro</i> and <i>in vivo</i> enhancer assays dissect the <i>cis</i>-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy
Multi-omics profiling, <i>in vitro</i> and <i>in vivo</i> enhancer assays dissect the <i>cis</i>-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy Open
North Carolina macular dystrophy (NCMD) is a rare autosomal dominant disease affecting macular development. The disease is caused by non-coding single nucleotide variants (SNVs) in two hotspot regions near PRDM13 and by duplications in two…
View article: Whole genome sequencing and UMI-4C provide novel insights into the genetic architecture and mechanisms underlying North Carolina macular dystrophy, a cis-regulatory disease
Whole genome sequencing and UMI-4C provide novel insights into the genetic architecture and mechanisms underlying North Carolina macular dystrophy, a cis-regulatory disease Open
View article: First report of human infection caused by Colletotrichum chlorophyti occurring in a post-corneal transplant patient with endophthalmitis
First report of human infection caused by Colletotrichum chlorophyti occurring in a post-corneal transplant patient with endophthalmitis Open
Keratomycosis or mycotic keratitis is recognized as one of the major causes of ophthalmic morbidity worldwide. The most common organisms linked to keratomycosis include Candida spp., Fusarium spp., and Aspergillus spp.…
View article: North Carolina Macular Dystrophy (NCMD/MCDR1): Haplotype analysis shows single ancestral founder in 13 American families
North Carolina Macular Dystrophy (NCMD/MCDR1): Haplotype analysis shows single ancestral founder in 13 American families Open
View article: Ocular Involvement in Sarcoidosis
Ocular Involvement in Sarcoidosis Open
Sarcoidosis presents with ocular involvement in 20–30% of patients1, with the most common ocular manifestations being granulomatous uveitis, dry eye, and conjunctival nodules. Pain may be caused by ciliary spasm or elevated intraocular pre…
View article: Fractal Analysis of Optical Coherence Tomography Angiography in Diabetic Retinopathy With and Without Macular Edema
Fractal Analysis of Optical Coherence Tomography Angiography in Diabetic Retinopathy With and Without Macular Edema Open
View article: Optical Coherence Tomography Angiography Analysis of Perfused Peripapillary Capillaries in Primary Open-Angle Glaucoma and Normal-Tension Glaucoma
Optical Coherence Tomography Angiography Analysis of Perfused Peripapillary Capillaries in Primary Open-Angle Glaucoma and Normal-Tension Glaucoma Open
Optical coherence tomography angiography can uniquely identify changes in peripapillary PCD in glaucoma patients. Optical coherence tomography angiography may offer insights into the pathophysiology of glaucomatous damage and risk factors …
View article: Foveal avascular zone acircularity index in diabetic eyes and healthy controls measured by optical coherence tomography angiography (OCTA)
Foveal avascular zone acircularity index in diabetic eyes and healthy controls measured by optical coherence tomography angiography (OCTA) Open