ex-vivo-organotypic-corneal-model-acute-epithelial-herpes-simplex

<em>Ex Vivo</em> Organotypic Corneal Model of Acute Epithelial Herpes Simplex Virus Type I Infection

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 ...

optimized-minimally-invasive-transscleral-subretinal-injection

Optimized Minimally Invasive Transscleral Subretinal Injection Technique in Mouse

The conventional method of material delivery to the subretinal space in the mouse involves dual perforation of the neural retina, which causes extensive ...

Drexel University College of Medicine

Duke University School of Medicine

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 retinopathy. Herein, we describe the first published report of a multifocal serous retinopathy secondary to pemigatinib.

Multifocal serous retinopathy with pemigatinib therapy for metastatic colon adenocarcinoma.

Caused by mutation or deletion of the  gene, choroideremia is a rare X-linked recessive chorioretinal dystrophy characterized by progressive degeneration of the retinal pigment epithelium, photoreceptors, and the choriocapillaris. There are few published reports of choroideremia associated with complex syndromic phenotypes due to large or contiguous gene deletions.

A novel large multi-gene deletion in syndromic choroideremia.

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 light detection under conditions of limited illumination. Here we demonstrate that human rods have a morphological organization unique among all described species, whereby the cell soma extends alongside the light-sensitive outer segment compartment to form a structure we have termed the "accessory inner segment." These structures have two striking features: they are reinforced by a massive microtubular cytoskeleton and contain electron-dense adhesions that mediate their attachment to outer segments. Given that the spacing of human rod photoreceptors is sparser than in most other species, the accessory inner segment likely provides mechanical support to the closely apposed outer segment. This discovery expands our understanding of the human retina and directs future studies of human photoreceptor function in health and disease.

Unique ultrastructural organization of human rod photoreceptors.

Ȧland Island eye disease (ȦIED) is a rare X-linked recessive condition caused by mutations in the  gene. The ȦIED phenotype involves an overlap of canonical features of ocular albinism and congenital stationary night blindness (CSNB), thereby presenting a diagnostic challenge. Genetic testing often cannot distinguish between ȦIED and CSNB, as many mutations in  are known to cause either ȦIED, CSNB, or conditions with ambiguous phenotypes along the ȦIED/CSNB continuum. Therefore, it is necessary to expand the landscape of  mutations responsible for this spectrum of conditions. We report two novel  variants in patients with a clinical presentation of ȦIED, including low visual acuity, congenital nystagmus, high myopia, hypopigmented fundi, foveal hypoplasia, and choroidal thinning. Electroretinographic findings included decreased rod- and cone-mediated responses, electronegative mixed responses, as well as a novel finding of electronegative rod-mediated responses. While these patients' presentations are consistent with ȦIED, future studies will be needed to determine whether these novel  variants are exclusive to ȦIED or can cause phenotypes along the entire ȦIED/CSNB2A spectrum.

ArticleTotal : 2	Year
Publication title Cited by 27	2012
Publication title	2025

Article	Year
Multifocal serous retinopathy with pemigatinib therapy for metastatic colon adenocarcinoma. International journal of retina and vitreous\| PubMed ID: 33892812	2021
A novel large multi-gene deletion in syndromic choroideremia. Ophthalmic genetics\| PubMed ID: 39257251	2024
Unique ultrastructural organization of human rod photoreceptors. Communications biology\| PubMed ID: 39820780	2025
Ȧland Island eye disease in two patients harboring novel variants. Ophthalmic genetics\| PubMed ID: 40400241	2025

Oleg Alekseev

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