Oxygen Kinetics During Corneal Cross-linking With and Without Supplementary Oxygen.

Purpose: To measure and simulate oxygen kinetics during corneal cross-linking at different irradiances with and without supplementary oxygen.

Design: Experimental, laboratory study.

Methods: In de-epithelialized porcine eyes, a femtosecond-laser-generated tunnel was used to place a fiber probe in corneal depths of 100, 200, and 300 μm to measure the local oxygen concentration.

Ciliary body length revisited by anterior segment optical coherence tomography: implications for safe access to the pars plana for intravitreal injections.

Purpose: To investigate the dependence of the ciliary body length (CBL) on the axial length (AL) and to draw conclusions on implications regarding safe pars plana access for intravitreal injections and vitreoretinal surgery.

Methods: A total of 200 individuals (mean age 42 years, SD ± 15.4) were enrolled in the study.

Conjunctival Microangiopathy in Diabetes Mellitus Assessed with Optical Coherence Tomography Angiography.

Purpose: To detect and quantify conjunctival microangiopathy with optical coherence tomography angiography (OCTA).

Methods: Imaging was performed in the temporal and nasal quadrant of the conjunctiva using a Heidelberg Spectralis spectral domain-OCT in OCTA mode adding a 25D lens to the standard 30° fundus lens. Images were acquired within a 10° × 5° cube at the limbus.

Longitudinal Retinal Layer Changes and Clinical Outcome in Patients with Multiple Evanescent White Dot Syndrome.

: To evaluate longitudinal changes in retinal layer thickness and clinical outcome in patients with MEWDS.: In 20 patients with MEWDS, SD-OCT images and BCVA were assessed at baseline, and at months 1, 3, and 12. SD-OCTs were segmented and measurements were performed within the fovea and a MEWDS lesion.

Efficacy of Amniotic Membrane Transplantation for the Treatment of Corneal Ulcers.

Purpose: To evaluate the outcome of amniotic membrane transplantation (AMTX) as a treatment for corneal ulcers.

Methods: Patients treated with AMTX for refractory corneal ulcers between 2012 and 2017 were evaluated in a retrospective analysis. Primary outcome measure was complete reepithelialization.

Lessons learned from quantitative fundus autofluorescence.

Quantitative fundus autofluorescence (qAF) is an approach that is built on a confocal scanning laser platform and used to measure the intensity of the inherent autofluorescence of retina elicited by short-wavelength (488 nm) excitation. Being non-invasive, qAF does not interrupt tissue architecture, thus allowing for structural correlations. The spectral features, cellular origin and topographic distribution of the natural autofluorescence of the fundus indicate that it is emitted from retinaldehyde-adducts that form in photoreceptor cells and accumulate, under most conditions, in retinal pigment epithelial cells.

Fundus Autofluorescence Lifetime Patterns in Retinitis Pigmentosa.

Purpose: We investigated whether fundus autofluorescence (FAF) lifetimes in patients with retinitis pigmentosa display a disease-specific lifetime pattern.

Methods: Fundus autofluorescence lifetime imaging ophthalmoscopy (FLIO) was performed in two spectral channels (498-560 and 560-720 nm) after excitation with a 473 nm pulsed laser in patients with retinitis pigmentosa and compared to healthy controls of a similar age range. Corresponding FAF intensity and spectral domain optical coherence tomography (OCT) data, as well as best corrected visual acuity (BCVA) were acquired and compared to fluorescence lifetime data.

A Distinct Phenotype of Eyes Shut Homolog (EYS)-Retinitis Pigmentosa Is Associated With Variants Near the C-Terminus.

Purpose: Mutations in the eyes shut homolog (EYS) gene are a frequent cause of autosomal recessive retinitis pigmentosa (arRP). This study used multimodal retinal imaging to elucidate genotype-phenotype correlations in EYS-related RP (EYS-RP).

Design: Cross-sectional study.

Quantitative Autofluorescence Intensities in Acute Zonal Occult Outer Retinopathy vs Healthy Eyes.

Importance: Acute zonal occult outer retinopathy (AZOOR) remains a challenging diagnosis. Early recognition of the disease depends on advances in imaging modalities that can improve phenotyping and contribute to the understanding of the underlying pathogenesis.

Objectives: To expand the range of approaches available to assist in the identification of AZOOR by multimodal imaging and to analyze the fundus lesions by quantifying short-wavelength fundus autofluorescence (quantitative fundus autofluorescence [qAF]) and spectral-domain optical coherence tomography.

A Comparison of En Face Optical Coherence Tomography and Fundus Autofluorescence in Stargardt Disease.

Purpose: To compare morphologic changes on en face images derived from wide-field swept-source optical coherence tomography (ssOCT) to hypo- and hyperautofluorescent (hypoAF, hyperAF) areas on short-wavelength autofluorescence (SW-AF), and near-infrared (NIR)-AF in recessive Stargardt disease (STGD1).

Methods: Wide-field ssOCT cube scans were obtained from 16 patients (16 eyes). Averaged B-scans and SW-AF images were obtained using Spectralis HRA+OCT.

HYPERREFLECTIVE DEPOSITION IN THE BACKGROUND OF ADVANCED STARGARDT DISEASE.

Purpose: To describe an unusual manifestation of hyperreflective deposits in the subretinal space in a group of patients with clinically and genetically confirmed Stargardt disease.

Methods: Retrospective review of color fundus, autofluorescence, infrared reflectance, red-free images, and spectral domain optical coherence tomography in 296 clinically diagnosed and genetically confirmed (2 expected disease-causing mutations in ABCA4) patients with Stargardt disease. Full-field electroretinogram (ffERG), medical history, and genotype data (in silico predictions) were further analyzed from the selected cohort.

The Rapid-Onset Chorioretinopathy Phenotype of ABCA4 Disease.

Purpose: To characterize patients affected by a uniquely severe, rapid-onset chorioretinopathy (ROC) phenotype of ABCA4 disease.

Design: Comparative cohort study.

Participants: Sixteen patients were selected from a large clinically diagnosed and genetically confirmed cohort (n = 300) of patients diagnosed with ABCA4 disease.

Electroretinography Reveals Difference in Cone Function between Syndromic and Nonsyndromic USH2A Patients.

Usher syndrome is an inherited and irreversible disease that manifests as retinitis pigmentosa (RP) and bilateral neurosensory hearing loss. Mutations in Usherin 2A (USH2A) are not only a frequent cause of Usher syndrome, but also nonsyndromic RP. Although gene- and cell-based therapies are on the horizon for RP and Usher syndrome, studies characterizing natural disease are lacking.

Retrospective Analysis of Structural Disease Progression in Retinitis Pigmentosa Utilizing Multimodal Imaging.

In this report, we assess the natural progression rate of retinitis pigmentosa (RP) over an average of three years using spectral-domain optical coherence tomography (SD-OCT) and short wavelength fundus autofluorescence (SW-AF). Measurement of the ellipsoid zone (EZ) line width and hyperautofluorescent ring diameters was performed in 81 patients with RP in a retrospective, longitudinal fashion. Rate of structural disease progression, symmetry between eyes, and test-retest variability were quantified.

Efficacy of rituximab in non-paraneoplastic autoimmune retinopathy.

Background: Autoimmune retinopathy (AIR) is a rare but potentially blinding condition that is often underdiagnosed. Common features in AIR presentation include rapidly progressive vision loss with abnormal electrophysiological responses of the retina associated with positive anti-retinal antibodies. AIR is also challenging to treat, and thus, the introduction of new potential therapeutic agents is welcomed.

Evaluating Structural Progression of Retinitis Pigmentosa After Cataract Surgery.

Purpose: To determine whether cataract surgery accelerates disease progression in retinitis pigmentosa (RP).

Design: Retrospective cohort study.

Methods: Seventy eyes of 40 patients with RP were categorized as having had phacoemulsification with intraocular lens implantation vs no cataract surgery at a single tertiary-level institution.

Frequent hypomorphic alleles account for a significant fraction of ABCA4 disease and distinguish it from age-related macular degeneration.

Background: Variation in the gene is causal for, or associated with, a wide range of phenotypes from early onset Mendelian retinal dystrophies to late-onset complex disorders such as age-related macular degeneration (AMD). Despite substantial progress in determining the causal genetic variation, even complete sequencing of the entire open reading frame and splice sites of identifies biallelic mutations in only 60%-70% of cases; 20%-25% remain with one mutation and no mutations are found in 10%-15% of cases with clinically confirmed ABCA4 disease. This study was designed to identify missing causal variants specifically in monoallelic cases of ABCA4 disease.

Quantifying Fundus Autofluorescence in Patients With Retinitis Pigmentosa.

Purpose: Using quantitative fundus autofluorescence (qAF), we analyzed short-wavelength autofluorescent (SW-AF) rings in RP.

Methods: Short-wavelength autofluorescent images (486 nm excitation) of 40 patients with RP (69 eyes) were acquired with a confocal scanning laser ophthalmoscope equipped with an internal fluorescent reference. Mean qAF was measured in eight preset segments (qAF8) and in region of interest (ROI)-qAF (200-700 μm) within and external to the borders of the rings at superior, temporal, and inferior sites relative to the ring.

Genotypic spectrum and phenotype correlations of ABCA4-associated disease in patients of south Asian descent.

Variants in the ABCA4 gene are the most common cause of juvenile-onset blindness affecting close to 1 in 10 000 people worldwide. Disease severity varies largely according to genotype, which can be specific to ethnic and racial groups. Here we investigate the spectrum of ABCA4 variation and its phenotypic expression in 38 patients of South Asian descent, notably from India, Pakistan, Bangladesh and Sri Lanka.

MULTIMODAL IMAGING OF DISEASE-ASSOCIATED PIGMENTARY CHANGES IN RETINITIS PIGMENTOSA.

Purpose: Using multiple imaging modalities, we evaluated the changes in photoreceptor cells and retinal pigment epithelium (RPE) that are associated with bone spicule-shaped melanin pigmentation in retinitis pigmentosa.

Methods: In a cohort of 60 patients with retinitis pigmentosa, short-wavelength autofluorescence, near-infrared autofluorescence (NIR-AF), NIR reflectance, spectral domain optical coherence tomography, and color fundus images were studied.

Results: Central AF rings were visible in both short-wavelength autofluorescence and NIR-AF images.

Analysis of pseudoprogression after corneal cross-linking in children with progressive keratoconus.

Purpose: To analyse the long-term efficacy of corneal cross-linking (CXL) in children with keratoconus and to describe criteria for the detection of pseudoprogression.

Methods: Evaluation of retrospectively collected corneal topography (Placido system) and tomography (Scheimpflug system) results after CXL in children (age 18 or younger). Twenty-five patients (33 eyes) were included.

Simultaneous Expression of ABCA4 and GPR143 Mutations: A Complex Phenotypic Manifestation.

Purpose: To describe the complex, overlapping phenotype expressed in a two generation family harboring pathogenic mutations in the ABCA4 and GPR143 genes.

Methods: Clinical evaluation of a two generation family included quantitative autofluorescence imaging (qAF, 488-nm excitation) using a modified confocal scanning laser ophthalmoscope equipped with an internal fluorescent reference to account for varying laser power detector sensitivity, spectral-domain optical coherence tomography, and full-field ERG testing. Complete sequencing of the ABCA4 and GPR143 genes was carried out in each individual.

Impact of corneal cross-linking on topical drug penetration in humans.

Purpose: To analyse the influence of corneal cross-linking (CXL) with ultraviolet-A (UV-A) and riboflavin on drug permeability in human subjects.

Methods: Keratoconus patients (n = 23; mean age 26.9 ± 5.

Characteristics of rod regeneration in a novel zebrafish retinal degeneration model using N-methyl-N-nitrosourea (MNU).

Primary loss of photoreceptors caused by diseases such as retinitis pigmentosa is one of the main causes of blindness worldwide. To study such diseases, rodent models of N-methyl-N-nitrosourea (MNU)-induced retinal degeneration are widely used. As zebrafish (Danio rerio) are a popular model system for visual research that offers persistent retinal neurogenesis throughout the lifetime and retinal regeneration after severe damage, we have established a novel MNU-induced model in this species.