Journal articleOphthalmol Sci · June 2026
OBJECTIVE: To define and characterize the clinical association of autosomal dominant snowflake vitreoretinal degeneration (SVD) with retinochisis arising from a heterozygous KCNJ13 variant in unrelated multigenerational families and to investigate its gene ...
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Journal articleJ Clin Invest · April 1, 2026
Vision begins in the outer segment compartment of photoreceptor cells, which is constantly renewed through the addition of membrane material at its base and ingestion of mature membranes at its tip by the retinal pigment epithelium (RPE). The close apposit ...
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Journal articleRetin Cases Brief Rep · April 1, 2026
PURPOSE: To report a case of bull's eye maculopathy in a 61-year-old female following short-term hydroxychloroquine (HCQ) exposure. METHODS: This was a retrospective chart review of a single patient case. RESULTS: The patient had normal macular anatomy at ...
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Journal articleOphthalmic Genet · March 30, 2026
INTRODUCTION: TUB-like protein 1 (TULP1) is a protein expressed in rod and cone photoreceptors, where it is thought to play a role in ciliary transport. Pathogenic variants in TULP1 have been implicated in a number of retinal conditions, including non-synd ...
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Journal articleOphthalmic Genet · February 2026
INTRODUCTION: Short stature, optic atrophy, and Pelger-Huët anomaly (SOPH) syndrome is a rare autosomal recessive condition associated with variants in the NBAS gene. First described in 2010, SOPH syndrome is a relatively newly recognized condition and our ...
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Journal articlebioRxiv · December 19, 2025
Vision begins in the outer segment compartment of photoreceptor cells, which is constantly renewed through the addition of membrane material at its base and ingestion of mature membranes at its tip by the retinal pigment epithelium (RPE). The close apposit ...
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Journal articleOphthalmol Retina · December 2025
PURPOSE: We present a deep learning algorithm-HCQuery-that detects the presence of hydroxychloroquine retinopathy and predicts its future occurrence from spectral-domain OCT (SD-OCT) images. DESIGN: We trained and validated a deep learning algorithm using ...
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Journal articleOphthalmic Genet · December 2025
INTRODUCTION: Pathogenic variants in TUBB4B, which encodes the β-tubulin 4B isotype of microtubule subunits, have been associated with Leber congenital amaurosis with early-onset deafness (LCAEOD), an autosomal dominant condition characterized by early and ...
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Journal articleOphthalmic Genet · October 2025
Ȧland Island eye disease (ȦIED) is a rare X-linked recessive condition caused by mutations in the CACNA1F gene. The ȦIED phenotype involves an overlap of canonical features of ocular albinism and congenital stationary night blindness (CSNB), thereby presen ...
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Journal articleInvest Ophthalmol Vis Sci · August 1, 2025
PURPOSE: Oligomeric complexes of peripherin-2 and ROM1 support the rim structure of membrane discs stacked inside the light-sensitive outer segment of vertebrate photoreceptor cells. We investigated the route by which peripherin-2 and ROM1 reach their dest ...
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Journal articleTransl Vis Sci Technol · August 1, 2025
Over the past decade, efforts focused on developing genetic therapies for inherited retinal diseases have advanced steadily to clinical trials and the development of a treatment, fueling optimism for the potential of precision medicines to provide safe and ...
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Journal articleJ Vis Exp · July 25, 2025
The conventional method of material delivery to the subretinal space in the mouse involves dual perforation of the neural retina, which causes extensive surgical damage. This leads to variability in the subsequent outcome measures of the visual function, s ...
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Journal articleCommun Biol · January 16, 2025
Rod and cone photoreceptor cells are specialized neurons responsible for transforming the information reaching the eyes in the form of photons into the language of neuronal activity. Rods are the most prevalent photoreceptor type, primarily responsible for ...
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Journal articleOphthalmic Genet · October 2024
INTRODUCTION: Caused by mutation or deletion of the CHM gene, choroideremia is a rare X-linked recessive chorioretinal dystrophy characterized by progressive degeneration of the retinal pigment epithelium, photoreceptors, and the choriocapillaris. There ar ...
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Journal articlebioRxiv · August 10, 2024
The first steps in vision take place in photoreceptor cells, which are highly compartmentalized neurons exhibiting significant structural variation across species. The light-sensitive ciliary compartment, called the outer segment, is located atop of the ce ...
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Journal articleInt J Retina Vitreous · April 23, 2021
BACKGROUND: Pemigatinib is an inhibitor of the fibroblast growth factor receptor (FGFR), recently approved for the treatment of cholangiocarcinoma. FGFR retinopathy is a newly recognized entity, with only two other FGFR inhibitors reported to cause serous ...
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Journal articleInvest Ophthalmol Vis Sci · June 3, 2020
PURPOSE: Herpes simplex virus type I (HSV-1) infection of corneal epithelial cells activates ataxia telangiectasia mutated (ATM), an apical kinase in the host DNA damage response pathway, whose activity is necessary for the progression of lytic HSV-1 infec ...
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Journal articleOphthalmic Res · 2015
BACKGROUND/AIMS: Herpes simplex virus (HSV) type I keratitis remains a leading cause of corneal morbidity, despite the availability of effective antiviral drugs. Improved understanding of virus-host interactions at the level of the host DNA damage response ...
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Journal articleExp Eye Res · December 2014
Age-related macular degeneration (AMD) is the most common cause of blindness among older adults in developed countries, and retinal iron accumulation may exacerbate the disease. Iron can upregulate the production of amyloid precursor protein (APP). Since a ...
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Journal articleExp Eye Res · November 2014
The purpose of our studies was to examine the relationship between iron and melanogenesis in retinal pigment epithelial cells, as prior observations had suggested that iron may promote melanogenesis. This relationship has potential clinical importance, as ...
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Journal articleInvest Ophthalmol Vis Sci · October 28, 2014
PURPOSE: Proangiogenic protein VEGF-A contributes significantly to retinal lesions and neovascularization in diabetic retinopathy (DR). In preclinical DR, hyperglycemia can upregulate VEGF-A in retinal cells. The VEGF-A promoter is responsive to the transc ...
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Journal articleTransl Vis Sci Technol · March 2014
PURPOSE: Herpes keratitis (HK) is the leading cause of cornea-derived and infection-associated blindness in the developed world. Despite the availability of effective antivirals, some patients develop refractory disease, drug-resistant infection, and topic ...
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Journal articleInvest Ophthalmol Vis Sci · February 3, 2014
PURPOSE: Herpes keratitis (HK) remains the leading cause of cornea-derived blindness in the developed world, despite the availability of effective antiviral drugs. Treatment toxicity and the emergence of drug resistance highlight the need for additional th ...
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Journal articleJ Vis Exp · November 3, 2012
Herpes keratitis is one of the most severe pathologies associated with the herpes simplex virus-type 1 (HSV-1). Herpes keratitis is currently the leading cause of both cornea-derived and infection-associated blindness in the developed world. Typical presen ...
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Journal articlePLoS One · January 21, 2011
Thermal plasmas and lasers have been widely used in medicine to cut, ablate and cauterize tissues through heating; in contrast, non-thermal plasma produces no heat, so its effects can be selective. In order to exploit the potential for clinical application ...
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Journal articleReprod Biol Endocrinol · May 13, 2009
BACKGROUND: NASP (Nuclear Autoantigenic Sperm Protein) is a linker histone chaperone required for normal cell division. Changes in NASP expression significantly affect cell growth and development; loss of gene function results in embryonic lethality. Howev ...
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Journal articleGene · April 12, 2006
NASP (nuclear autoantigenic sperm protein) is a histone H1 binding protein expressed in all cells undergoing division. We have previously reported the sequence for the mouse NASP gene and analyzed its proximal promoter region in silico to determine putativ ...
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