Brian G. Ballios
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View article: <i>USH2A</i> -Mutated Human Retinal Organoids Model Rod–Cone Dystrophy
<i>USH2A</i> -Mutated Human Retinal Organoids Model Rod–Cone Dystrophy Open
Our findings suggest that molecular changes precede overt photoreceptor loss in USH2A RP, and pathogenesis may begin before clinical symptoms emerge. By defining early and late disease features, we provide new insight on the developmental …
View article: SAT-251 Massive Tissue Deposition Of Cholesterol Leading To Multi-organ Failure In Cholestatic Hypercholesterolemia
SAT-251 Massive Tissue Deposition Of Cholesterol Leading To Multi-organ Failure In Cholestatic Hypercholesterolemia Open
Disclosure: D.R. Barros: None. B.G. Ballios: None. Y. Patoida: None. S. Singer: None. C.F. Rosen: None. M.A. Seidman: None. R.A. Hegele: None. G.F. Lewis: None. Background: Cholestasis-induced severe hypercholesterolemia can result in vari…
View article: Visual stimulus-evoked transient blood flow and blood vessel diameter changes in the healthy human retina measured with a combined OCT+ERG system
Visual stimulus-evoked transient blood flow and blood vessel diameter changes in the healthy human retina measured with a combined OCT+ERG system Open
Neurodegenerative retinal diseases, such as glaucoma, age-related macular degeneration and diabetic retinopathy, cause gradual damage to the retinal morphology, blood vasculature, and neuronal function, and ultimately lead to blindness. In…
View article: Massive tissue deposition of cholesterol leading to multi-organ failure in cholestatic hypercholesterolemia
Massive tissue deposition of cholesterol leading to multi-organ failure in cholestatic hypercholesterolemia Open
Cholestasis-induced severe hypercholesteremia can result in various complications, including the development of xanthomas and concern that marked hypercholesterolemia may accelerate atherosclerosis. However, deposition of lipids and choles…
View article: Visual stimulus-evoked transient blood flow and blood vessel diameter changes in the healthy human retina measured with a combined OCT+ERG system
Visual stimulus-evoked transient blood flow and blood vessel diameter changes in the healthy human retina measured with a combined OCT+ERG system Open
Neurodegenerative retinal diseases, such as glaucoma, age-related macular degeneration, and diabetic retinopathy, cause gradual damage to the retinal morphology, blood vasculature and neuronal function, and ultimately lead to blindness. In…
View article: Visual stimulus-evoked transient blood flow and blood vessel diameter changes in the healthy human retina measured with a combined OCT+ERG system
Visual stimulus-evoked transient blood flow and blood vessel diameter changes in the healthy human retina measured with a combined OCT+ERG system Open
Neurodegenerative retinal diseases, such as glaucoma, age-related macular degeneration, and diabetic retinopathy, cause gradual damage to the retinal morphology, blood vasculature and neuronal function, and ultimately lead to blindness. In…
View article: In Vivo Contactless, Cellular-Resolution Imaging of the Healthy and Pathological Human Limbus With 250-kHz Point-Scanning SD-OCT
In Vivo Contactless, Cellular-Resolution Imaging of the Healthy and Pathological Human Limbus With 250-kHz Point-Scanning SD-OCT Open
The OCT technology described here could improve the clinical diagnostics and grading of LSCD, preoperative planning, and postoperative evaluation of LSCD subjects, in addition to monitoring the effectiveness of various LSCD treatments.
View article: <i>Sox15</i>is a novel retinal developmental gene that promotes cone photoreceptor differentiation through inhibition of alternative rod photoreceptor fates
<i>Sox15</i>is a novel retinal developmental gene that promotes cone photoreceptor differentiation through inhibition of alternative rod photoreceptor fates Open
The type of cell fate decisions a progenitor can make in the developing nervous system are dependent on a combination of cell intrinsic gene expression programs and cell extrinsic signaling molecules that influence expression programs. Mor…
View article: Streamlined Ophthalmologist-Led Pathway to Diagnosis and Accessibility of Genetics Testing for Patients with Inherited Retinal Dystrophies in Canada
Streamlined Ophthalmologist-Led Pathway to Diagnosis and Accessibility of Genetics Testing for Patients with Inherited Retinal Dystrophies in Canada Open
Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.
View article: Inherited Retinal Diseases and Retinal Organoids as Preclinical Cell Models for Inherited Retinal Disease Research
Inherited Retinal Diseases and Retinal Organoids as Preclinical Cell Models for Inherited Retinal Disease Research Open
Inherited retinal diseases (IRDs) are a large group of genetically and clinically diverse blinding eye conditions that result in progressive and irreversible photoreceptor degeneration and vision loss. To date, no cures have been found, al…
View article: Exploring the diverse clinical and variant spectrum of <scp>CEP78</scp>‐associated syndrome: Novel pathogenic variants identified in a case series
Exploring the diverse clinical and variant spectrum of <span>CEP78</span>‐associated syndrome: Novel pathogenic variants identified in a case series Open
Dual sensory impairment, commonly referred to as combined hearing and vision loss, can stem from a diverse spectrum of conditions, each presenting with its unique set of clinical characteristics. Our understanding of dual sensory impairmen…
View article: P435: CEP78-associated cone-rod dystrophy and hearing loss unveiled through retinal dystrophy panel: Resolving uncertainty in a family with inconclusive WES
P435: CEP78-associated cone-rod dystrophy and hearing loss unveiled through retinal dystrophy panel: Resolving uncertainty in a family with inconclusive WES Open
Dual sensory impairment (DSI), commonly referred to as combined hearing and vision loss, can stem from a diverse spectrum of conditions, each presenting unique clinical characteristics. When evaluated by clinicians lacking genetic expertis…
View article: Ensemble of deep convolutional neural networks is more accurate and reliable than board-certified ophthalmologists at detecting multiple diseases in retinal fundus photographs
Ensemble of deep convolutional neural networks is more accurate and reliable than board-certified ophthalmologists at detecting multiple diseases in retinal fundus photographs Open
Aims To develop an algorithm to classify multiple retinal pathologies accurately and reliably from fundus photographs and to validate its performance against human experts. Methods We trained a deep convolutional ensemble (DCE), an ensembl…
View article: Editorial: Regulation of inflammation and metabolism in retinal neurodegenerative disorders
Editorial: Regulation of inflammation and metabolism in retinal neurodegenerative disorders Open
EDITORIAL article Front. Neurosci., 02 December 2022Sec. Neurodegeneration Volume 16 - 2022 | https://doi.org/10.3389/fnins.2022.1102385
View article: Full-Thickness Macular Hole Due to Choroidal Neovascularization in the Setting of Pathologic Myopia
Full-Thickness Macular Hole Due to Choroidal Neovascularization in the Setting of Pathologic Myopia Open
Purpose: To present a case of myopic choroidal neovascularization (CNV) leading to a full-thickness macular hole (MH) in a patient with macular schisis. Methods: A single case was evaluated. Results: A 65-year-old woman presented with myop…
View article: RP2 X-LINKED RETINITIS PIGMENTOSA CARRIER STATE PRESENTING WITH VASCULAR LEAKAGE AND UNILATERAL MACULAR ATROPHY
RP2 X-LINKED RETINITIS PIGMENTOSA CARRIER STATE PRESENTING WITH VASCULAR LEAKAGE AND UNILATERAL MACULAR ATROPHY Open
Purpose: We describe the unusual clinical presentation of a 33-year-old woman subsequently identified as a carrier of RP2 -associated X-linked retinitis pigmentosa. Methods: Case report. Results: A 33-year-old woman without a known family …
View article: Novel <i>RCBTB1</i> variants causing later-onset non-syndromic retinal dystrophy with macular chorioretinal atrophy
Novel <i>RCBTB1</i> variants causing later-onset non-syndromic retinal dystrophy with macular chorioretinal atrophy Open
This report adds to the genetic diversity of RCBTB1-associated disease. These cases confirm the later-onset, relative to many other retinal dystrophies, and macular focus of disease described in most cases to-date. They are thus a reminder…
View article: Novel <i>RCBTB1</i> variants causing later-onset non-syndromic retinal dystrophy with macular chorioretinal atrophy
Novel <i>RCBTB1</i> variants causing later-onset non-syndromic retinal dystrophy with macular chorioretinal atrophy Open
Variants in RCBTB1 were recently described to cause a retinal dystrophy with only eight families described to date and a predominant phenotype of macular atrophy and peripheral reticular degeneration. Here, we further evaluate the genotypi…
View article: Beyond Sector Retinitis Pigmentosa: Expanding the Phenotype and Natural History of the Rhodopsin Gene Codon 106 Mutation (Gly-to-Arg) in Autosomal Dominant Retinitis Pigmentosa
Beyond Sector Retinitis Pigmentosa: Expanding the Phenotype and Natural History of the Rhodopsin Gene Codon 106 Mutation (Gly-to-Arg) in Autosomal Dominant Retinitis Pigmentosa Open
Sector and pericentral are two rare, regional forms of retinitis pigmentosa (RP). While usually defined as stable or only very slowly progressing, the available literature to support this claim is limited. Additionally, few studies have an…
View article: The Next Generation of Molecular and Cellular Therapeutics for Inherited Retinal Disease
The Next Generation of Molecular and Cellular Therapeutics for Inherited Retinal Disease Open
Inherited retinal degenerations (IRDs) are a diverse group of conditions that are often characterized by the loss of photoreceptors and blindness. Recent innovations in molecular biology and genomics have allowed us to identify the causati…
View article: Spontaneous Closure of an Idiopathic Full-Thickness Macular Hole: A Literature Review
Spontaneous Closure of an Idiopathic Full-Thickness Macular Hole: A Literature Review Open
Purpose: This work reviews the literature regarding spontaneous closure of idiopathic full-thickness macular holes (FTMHs). Methods: Literature on patients with spontaneous idiopathic FTMH closure was reviewed via Ovid MEDLINE, EMBASE, and…
View article: Induction of rod versus cone photoreceptor-specific progenitors from retinal precursor cells
Induction of rod versus cone photoreceptor-specific progenitors from retinal precursor cells Open
During development, multipotent progenitors undergo temporally-restricted differentiation into post-mitotic retinal cells; however, the mechanisms of progenitor division that occurs during retinogenesis remain controversial. Using clonal a…