Edwin M. Stone.

Edwin M. Stone.

Department Of Ophthalmology, University Of Iowa Carver College Of Medicine, Iowa City, Iowa The Howard Hughes Medical Institute, Iowa City, Iowa.

Direct Impact

Concepts for which Edwin M Stone has direct influence:

retinitis pigmentosa
age-related macular degeneration
leber congenital amaurosis
bardet-biedl syndrome
gene therapy
visual acuity
macular dystrophy

External impact

Concepts related to the work of other authors for which Edwin M Stone has influence:

refractive error
fixation location
retinitis pigmentosa
leber congenital amaurosis
12 months
additional loci
education level

Prominent publications by Edwin M. Stone.

KOL-Index: 197 Stargardt disease, the most common inherited macular dystrophy, is characterized by vision loss due to central retinal atrophy. Although clinical trials for Stargardt are currently underway, the disease is typically slowly progressive, and objective, imaging-based biomarkers are critically needed. In this retrospective, observational study, we characterize the thicknesses of individual ...
Known for
Sublayers Outer | Macular Optical Coherence Tomography | Mixed Effects Models | Central Retinal Atrophy
KOL-Index: 153 BACKGROUND/AIMS: Patients with BEST1-associated autosomal dominant Best vitelliform macular dystrophy (AD-BVMD) have been reported to be hyperopic, but the prevalence of refractive error has not been described. This study aimed to characterise the type and degree of refractive error in a large cohort of patients with AD-BVMD compared with an age-similar group with ABCA4-associated Stargardt ...
Known for
Single Academic Centre | 94 Women | Hyperopic Refractive | Dystrophy Bvmd
KOL-Index: 73 Our understanding of inherited retinal disease has benefited immensely from molecular genetic analysis over the past several decades. New technologies that allow for increasingly detailed examination of a patient's DNA have expanded the catalog of genes and specific variants that cause retinal disease. In turn, the identification of pathogenic variants has allowed the development of gene ...
Known for
Diagnosis Today | Expanded Catalog | Focused Methods | Modeling Molecular
KOL-Index: 62 Gene correction is a valuable strategy for treating inherited retinal degenerative diseases, a major cause of irreversible blindness worldwide. Single gene defects cause the majority of these retinal dystrophies. Gene augmentation holds great promise if delivered early in the course of the disease, however, many patients carry mutations in genes too large to be packaged into adeno-associated ...
Known for
Treat Inherited | Induced Pluripotent Stem | Cas9 Gene | Current Developments
KOL-Index: 61 Gene expression provides valuable insight into cell function. As such, vision researchers have frequently employed gene expression studies to better understand retinal physiology and disease. With the advent of single-cell RNA sequencing, expression experiments provide an unparalleled resolution of information. Instead of studying aggregated gene expression across all cells in a heterogenous ...
Known for
Single-Cell Technology | Choroidal Endothelial Cells | Retinal Organoid Biology | Basic Translational Vision
KOL-Index: 49
KOL-Index: 48 Age-related macular degeneration (AMD) is a common and devastating disease that can result in severe visual dysfunction. Over the last decade, great progress has been made in identifying genetic variants that contribute to AMD, many of which lie in genes involved in the complement cascade. In this review we discuss the significance of complement activation in AMD, particularly with respect ...
Known for
Choriocapillaris | Amd Implications | Loss Early
KOL-Index: 46 BACKGROUND: Glaucoma is a leading cause of visual disability and blindness. Release of iris pigment within the eye, pigment dispersion syndrome (PDS), can lead to one type of glaucoma known as pigmentary glaucoma. PDS has a genetic component, however, the genes involved with this condition are largely unknown. We sought to discover genes that cause PDS by testing cohorts of patients and ...
Known for
19 Genes | Abundant Mrap Protein | Complex Genetic Basis | Iris
KOL-Index: 45 Purpose: To determine efficacy outcome measures for clinical trials of Leber congenital amaurosis (LCA) associated with a common intronic mutation in the CEP290 gene. Methods: CEP290-LCA patients (ages 5-48) with the intronic mutation (c.2991+1655A>G) were studied as a retrospective observational case series using clinical methods and with full-field sensitivity testing (FST), optical ...
Known for
Mutation Cep290 | Foveal Cone Function | Tplr Oci | Retrospective Observational Series
KOL-Index: 44 BACKGROUND: In a four-generation Caucasian family variably diagnosed with autosomal dominant (AD) Stickler or Wagner disease, commercial gene screening failed to identify a mutation in COL2A1 or VCAN. We utilized linkage mapping and exome sequencing to identify the causal variant. MATERIALS AND METHODS: Genomic DNA samples collected from 40 family members were analyzed. A whole-genome ...
Known for
Materials Methods Genomic Dna | Multipoint Linkage | Illumina | Clustered Chromosome 12q Snps

Department of Ophthalmology, University of Iowa Carver College of Medicine, Iowa City, Iowa The Howard Hughes Medical Institute, Iowa City, Iowa.

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