Two Cases of Intraocular Undifferentiated Pleomorphic Sarcoma.

Introduction: Undifferentiated pleomorphic sarcoma (UPS), formerly known as malignant fibrous histiocytoma, is a high-grade soft tissue sarcoma arising from mesenchymal stem cells. UPSs are rare and account for about 5% of all soft tissue sarcoma. UPSs arising in the head and neck are especially rare, comprising 1-3% of all UPSs.

Performance of Polygenic Risk Scores for Primary Open-Angle Glaucoma in Populations of African Descent.

Importance: Primary open-angle glaucoma (POAG) polygenic risk scores (PRSs) continue to be evaluated in primarily European-ancestry populations despite higher prevalence and worse outcomes in African-ancestry populations.

Objective: To evaluate how established POAG PRSs perform in African-ancestry samples from the Genetics in Glaucoma Patients of African Descent (GIGA), Genetics of Glaucoma in Individuals of African Descent (GGLAD), and Million Veteran Program (MVP) datasets and compare these with European-ancestry samples.

Design, Setting, And Participants: This was a multicenter, cross-sectional study of POAG cases and controls from Tanzania, South Africa, Nigeria, Ghana, and the US.

The Impact of Spliceosome Inhibition in SF3B1-Mutated Uveal Melanoma.

Purpose: Unfortunately, treatment of patients with uveal melanoma (UM) with metastatic disease is limited. Twenty percent of patients with UM harbor a mutation in the splicing factor gene SF3B1, suggesting that aberrant spliceosome function plays a vital role in tumorigenesis. Splicing inhibitors exploit the preferential sensitivity of spliceosome-compromised leukemic cells to these compounds.

Characteristics of autosomal dominant WFS1-associated optic neuropathy and its comparability to OPA1-associated autosomal dominant optic atrophy.

This study aims to describe the ophthalmic characteristics of autosomal dominant (AD) WFS1-associated optic atrophy (AD WFS1-OA), and to explore phenotypic differences with dominant optic atrophy (DOA) caused by mutations in the OPA1-gene. WFS1-associated diseases, or 'wolframinopathies', exhibit a spectrum of ocular and systemic phenotypes, of which the autosomal recessive Wolfram syndrome has been the most extensively studied. AD mutations in WFS1 also cause various phenotypical changes including OA.

Frequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort: The RD5000 Consortium.

Purpose: Gene-based therapies for inherited retinal dystrophies (IRDs) are upcoming. Treatment before substantial vision loss will optimize outcomes. It is crucial to identify common phenotypes and causative genes in children.

Optical Coherence Tomography Angiography Assessment of Optic Nerve Head and Macula Across the Primary Angle Closure Disease Spectrum.

Prcis: The microvasculature of the optic disc and macula in eyes with acute primary angle closure and primary angle closure glaucoma was lower across the disease spectrum, but the significant difference was only observed in primary angle closure glaucoma.

Purpose: To assess the microvasculature in the optic nerve head (ONH) and macula across the primary angle closure disease (PACD) spectrum using optical coherence tomography angiography (OCTA).

Materials And Methods: OCTA (AngioVue, Fremont, CA) imaging was performed on 122 PACD subjects.

A Rare Case of Subconjunctival Nerve Sheath Myxoma Presenting as Orbital Fat Prolapse.

Nerve sheath myxomas are extremely rare myxoid peripheral nerve sheath tumors with a predilection for the distal extremities, particularly common in the fingers and knees. Here, the authors report a 60-year-old male patient with a subconjunctival epibulbar nerve sheath myxoma, which was clinically diagnosed as an orbital fat prolapse. The lesion was successfully debulked without clinical recurrence over more than 3 years.

Advances in Molecular Understanding of Ocular Adnexal Disease.

The goal of this Special Issue is to provide comprehensive molecular biological data that aims to elucidate the molecular and epigenetic mechanisms operable in diseases of the ocular adnexa [...

Retrospective study in 1020 cases on the rate of surgical site infections after lacrimal surgery without prophylactic systemic antibiotics.

Background/aims: Data regarding the effectiveness of prophylactic systemic antibiotics (PSA) in lacrimal surgery is scarce. Therefore, we determined the postoperative surgical site infection (SSI) rate in lacrimal surgery without PSA.

Methods: We retrospectively analysed files of patients who underwent external (extDCR) or endoscopic endonasal dacryocystorhinostomy (endoDCR).

Histological evidence of MAPK pathway activation across subtypes of adult orbital xanthogranulomatous disease irrespective of the detection of oncogenic mutations.

Adult orbital xanthogranulomatous disease (AOXGD) is a spectrum of histiocytoses with four subtypes. Mitogen-activated protein kinase (MAPK) pathway mutations have been detected in various histiocytic neoplasms, little is known about this in AOXGD. Targeted regions of cancer- and histiocytosis-related genes were analyzed and immunohistochemical staining of phosphorylated ERK (pERK), cyclin D1 and PU.

Multicentric Longitudinal Prospective Study in a European Cohort of MYO7A Patients: Disease Course and Implications for Gene Therapy.

Purpose: We investigated the natural history of retinal dystrophy owing to variants in the MYO7A gene.

Methods: Fifty-three patients (mean age, 33.6 ± 16.

Detection of capillary abnormalities in early diabetic retinopathy using scanning laser ophthalmoscopy and optical coherence tomography combined with adaptive optics.

This study tested if a high-resolution, multi-modal, multi-scale retinal imaging instrument can provide novel information about structural abnormalities in vivo. The study examined 11 patients with very mild to moderate non-proliferative diabetic retinopathy (NPDR) and 10 healthy subjects using fundus photography, optical coherence tomography (OCT), OCT angiography (OCTA), adaptive optics scanning laser ophthalmoscopy (AO-SLO), adaptive optics OCT and OCTA (AO-OCT(A)). Of 21 eyes of 11 patients, 11 had very mild NPDR, 8 had mild NPDR, 2 had moderate NPDR, and 1 had no retinopathy.

Representation of Women Among Individuals With Mild Variants in ABCA4-Associated Retinopathy: A Meta-Analysis.

Importance: Previous studies indicated that female sex might be a modifier in Stargardt disease, which is an ABCA4-associated retinopathy.

Objective: To investigate whether women are overrepresented among individuals with ABCA4-associated retinopathy who are carrying at least 1 mild allele or carrying nonmild alleles.

Data Sources: Literature data, data from 2 European centers, and a new study.

Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.

Inherited macular dystrophies (iMDs) are a group of genetic disorders, which affect the central region of the retina. To investigate the genetic basis of iMDs, we used single-molecule Molecular Inversion Probes to sequence 105 maculopathy-associated genes in 1352 patients diagnosed with iMDs. Within this cohort, 39.

Loss-of-function variants in UBAP1L cause autosomal recessive retinal degeneration.

Purpose: Inherited retinal diseases (IRDs) are a group of monogenic conditions that can lead to progressive blindness. Their missing heritability is still considerable, due in part to the presence of disease genes that await molecular identification. The purpose of this work was to identify novel genetic associations with IRDs.

8q Gain Has No Additional Predictive Value in Uveal Melanoma but Is Predictive for a Worse Prognosis in Patients with Uveal Melanoma.

Purpose: Gain of chromosome 8q has been associated with poor prognosis in uveal melanoma (UM), and an increase in the absolute number of 8q-copies correlated with an even shorter survival. Splicing factor 3b subunit 1 ()-mutated () tumors display structural chromosomal anomalies and frequently show a partial gain of chromosome 8qter. A recent subset of UM with early-onset metastases has been identified, prompting the investigation of the relationship between survival, 8q gain, and UM.

Efficacy of Carbonic Anhydrase Inhibitors on Cystoid Fluid Collections and Visual Acuity in Patients with X-Linked Retinoschisis.

Purpose: To date, there is no standard treatment regimen for carbonic anhydrase inhibitors (CAIs) in X-linked retinoschisis (XLRS) patients. This retrospective study aims to evaluate the efficacy of CAIs on visual acuity and cystoid fluid collections (CFC) in XRLS patients in Dutch and Belgian tertiary referral centers.

Design: Retrospective cohort study.

Novel Surgical Treatment of an Intraretinal Juxtapapillary Hemangioblastoma Using Intraocular Diathermy Forceps: A Case Report.

The surgical treatment of intraretinal juxtapapillary retinal hemangioblastomas (JRHs) was previously contraindicated because of the significant risk of collateral damage to the macula and optic nerve. This case report discusses the effectiveness and safety of a novel surgical technique using intraocular bipolar diathermy forceps to coagulate feeder and draining blood vessels of an intraretinal JRH. The patient suffered from bilateral retinal hemangioblastomas with loss of visual function in one eye and the development of an intraretinal JRH in the other eye.

An Artificial Intelligence Enabled System for Retinal Nerve Fiber Layer Thickness Damage Severity Staging.

Purpose: To develop an objective glaucoma damage severity classification system based on OCT-derived retinal nerve fiber layer (RNFL) thickness measurements.

Design: Algorithm development for RNFL damage severity classification based on multicenter OCT data.

Subjects And Participants: A total of 6561 circumpapillary RNFL profiles from 2269 eyes of 1171 subjects to develop models, and 2505 RNFL profiles from 1099 eyes of 900 subjects to validate models.

Allogeneic Serum Eye Drops: A Randomized Clinical Trial to Evaluate the Clinical Effectiveness of Two Drop Sizes.

Introduction: Allogeneic serum from blood donors is starting to be used to treat patients with dry eye disease (DED). However, the optimal dose is not known. We therefore aimed to evaluate the clinical efficaciousness and user-friendliness of micro-sized versus conventional-sized allogeneic serum eye drops (SEDs).

CRB1-Associated Retinal Dystrophy Patients Have Expanded Lewis Glycoantigen-Positive T Cells.

Purpose: Eye inflammation may occur in patients with inherited retinal dystrophies (IRDs) and is seen frequently in IRDs associated with mutations in the CRB1 gene. The purpose of this study was to determine the types of inflammatory cells involved in IRDs, by deep profiling the composition of peripheral blood mononuclear cells of patients with a CRB1-associated IRD.

Methods: This study included 33 patients with an IRD with confirmed CRB1 mutations and 32 healthy controls.

ATRX Loss in the Development and Prognosis of Conjunctival Melanoma.

Metastatic disease is linked to promoter mutations in conjunctival melanomas (CM). Both promoter and mutations are associated with faulty telomere maintenance. This study aimed to determine the prognostic value of ATRX loss in conjunctival melanocytic lesions.

Long-Term Follow-Up of Patients with Scleritis After Rituximab Treatment Including B Cell Monitoring.

Purpose: We report the long-term effect of rituximab (RTX) in scleritis and determine the value of B-cell monitoring for the prediction of relapses.

Methods: We retrospectively studied 10 patients with scleritis, who were treated with RTX. Clinical characteristics were collected, and blood B-cell counts were measured before the start of RTX, and at various time points after treatment.

Aberrant regeneration in an international registry of patients with 3rd-nerve palsy.

Background/aims: To describe the patterns of pre-operative aberrant regeneration and motility outcomes reported in an international registry of patients with 3-nerve palsy treated with nasal transposition of the split lateral rectus muscle (NTSLR).

Methods: This cross-sectional study used data from an international, multicentre registry of patients with 3-nerve palsy treated with NTSLR. Patients with aberrant regeneration were identified, and patterns of innervation described.