Retinal Degeneration Associated With Biallelic RDH12 Variants: Longitudinal Evaluation of Retinal Structure and Visual Function in Pediatric Patients.

Purpose: The purpose of this study was to determine the natural history of the photoreceptor disease in a large group of pediatric patients with RHD12-associated Leber congenital amaurosis (RDH12-LCA), to estimate the changes expected over the duration of a clinical trial, and to define the relationship between the photoreceptor loss and visual dysfunction.

Methods: Forty-six patients representing 36 families were included. The great majority of patients were under the age of 18 years.

-TRPM1 autoantibody-positive unilateral melanoma associated retinopathy (MAR) triggered by immunotherapy recapitulates functional and structural details of -associated congenital stationary night blindness.

Purpose: To describe the retinal phenotype of an unusual case of anti-TRPM1 autoantibody-positive unilateral melanoma-associated retinopathy (MAR) triggered by nivolumab therapy and compare with the phenotype of -associated Congenital Stationary Night Blindness (-CSNB).

Observations: Unilateral MAR was diagnosed 3 months after starting nivolumab therapy for consolidation of a successfully treated melanoma. Retinal autoantibodies against TRPM1 were identified.

Opinions regarding equine veterinarian attire and attributes: results of a horse owner survey.

Objective: To investigate potential equine clients' perceptions of equine veterinarians based on attire.

Sample: 763 horse owners/lessees.

Methods: Participants were invited to complete a survey shared mainly via equestrian social media pages between August and October 2022.

Treatment of Spontaneous Tumors With Algorithmically Controlled Electroporation.

Objective: To study the safety and efficacy of algorithmically controlled electroporation (ACE) against spontaneous equine melanoma.

Methods: A custom temperature sensing coaxial electrode was paired with a high voltage pulse generation system with integrated temperature feedback controls. Computational modeling and ex vivo studies were conducted to evaluate the system's ability to achieve and maintain target temperatures.

Investigation of integrated time nanosecond pulse irreversible electroporation against spontaneous equine melanoma.

Introduction: Integrated time nanosecond pulse irreversible electroporation (INSPIRE) is a novel tumor ablation modality that employs high voltage, alternating polarity waveforms to induce cell death in a well-defined volume while sparing the underlying tissue. This study aimed to demonstrate the efficacy of INSPIRE against spontaneous melanoma in standing, awake horses.

Methods: A custom applicator and a pulse generation system were utilized in a pilot study to treat horses presenting with spontaneous melanoma.

Use of equine cadaver limb models to enhance veterinary student self-efficacy during arthrocentesis.

Objective: To determine if equine cadavers modified with joint distension would yield higher fluid volumes, require fewer needle redirects, and improve student self-efficacy.

Sample: 19 third-year veterinary students.

Methods: Voluntary participation was sought during 4 sessions of an equine arthrocentesis and diagnostic analgesia laboratory.

Bilateral patellar aplasia in a foal.

A 2-day-old Cleveland Bay colt was referred to the Equine Emergency Service of the Farm Animal and Equine Veterinary Medical Center at North Carolina State University's College of Veterinary Medicine for evaluation of decreased nursing behaviour and right hindlimb lameness of 2 days' duration. When assisted to stand, the foal was unable to extend either hindlimb or bear weight on the hindlimbs, the right patella was luxated laterally and unable to be reduced, and the foal assumed a crouched position. Stifle radiographs revealed minimal, heterogeneous, ill-defined ossification of both patellae.

Optimization and Validation of a Virtual Reality Orientation and Mobility Test for Inherited Retinal Degenerations.

Purpose: To optimize a virtual reality (VR) orientation and mobility (O&M) test of functional vision in patients with inherited retinal degenerations (IRDs).

Methods: We developed an O&M test using commercially available VR hardware and custom-generated software. Normally sighted subjects (n = 20, ages = 14-67 years) and patients with IRDs (n = 29, ages = 15-63 years) participated.

DANON DISEASE: A MODEL OF PHOTORECEPTOR DEGENERATION SECONDARY TO PRIMARY RETINAL PIGMENT EPITHELIUM DISEASE.

Purpose: To describe in detail the retinal phenotype of LAMP2-associated Danon disease.

Methods: Three LAMP2-positive patients from two unrelated families were studied with spectral-domain optical coherence tomography and with short-wavelength and near-infrared fundus autofluorescence (FAF) imaging. Visual function was measured with full-field electroretinography and chromatic perimetry.

Ocular Biomarkers of Riboflavin Transporter Deficiency.

Background: To describe the clinical presentation with a focus on ocular manifestations and response to riboflavin supplementation of 3 patients with riboflavin transporter deficiency (RTD) caused by mutations in SLC52A2 ( SLC52A2- RTD).

Methods: This is a retrospective review of records of 3 children (aged 18, n = 2 and age = 8, n = 1) with SLC52A2- RTD. Patients underwent comprehensive ophthalmic evaluations including color vision testing, pattern visual-evoked potentials (pVEPs, 1 patient) and spectral domain optical coherence tomography (SD-OCT) imaging.

Efficacy of a commercial dry sleeve cryotherapy system for cooling the equine metacarpus.

Objective: To determine the ability of a commercial cryotherapy system (Game Ready Equine) to cool the metacarpal subcutaneous tissue and the superficial digital flexor tendon (SDFT) in horses.

Study Design: Experimental study.

Animals Or Sample Population: Six healthy adult horses.

-associated recessive retinitis pigmentosa caused by paternal uniparental disomy.

Background: We report on a patient with a juvenile-onset inherited retinal degeneration (IRD) associated with homozygous mutations inherited by uniparental disomy (UPD).

Material And Methods: A 6-year-old healthy girl failed school vision screening and was diagnosed with a bull's eye maculopathy. She underwent complete ophthalmic examination, full-field electroretinograms (ERG), kinetic fields, full-field sensitivity testing (FST), and retinal imaging with spectral domain optical coherence tomography (SD-OCT) and near-infrared (NIR) and short wavelength (SW) fundus autofluorescence (FAF).

VISION-RELATED MALPRACTICE INVOLVING PRISONERS: Analysis of the Westlaw Database.

Purpose: To characterize vision-related malpractice litigation involving prisoners.

Methods: Retrospective legal database review using the Westlaw database was performed to identify vision-related malpractice lawsuits involving prisoners in the United States from 1914 to 2020. Main outcomes and measurements were allegations of malpractice, verdicts, and settlements.

Relative preservation of the extramacular retina in -associated Leber congenital amaurosis.

Leber Congenital Amaurosis caused by mutations in (-LCA) represents one of the most severe molecular forms of inherited retinal degenerations, even within the LCA disease spectrum. A retina-wide retinal degeneration with preservation of photoreceptors limited to central retina, near the foveal center, is the expected phenotype in various forms of LCA, including -LCA. In this report large areas of relatively preserved photoreceptors in the midperipheral and peripheral retina were documented with spectral domain optical coherence tomography and with fundus autofluorescence in a 13-year-old patient with -LCA.

NPHP1 FULL DELETION CAUSES NEPHRONOPHTHISIS AND A CONE-ROD DYSTROPHY.

Purpose: To describe in detail the structural and functional phenotypes of a patient with cone-rod dystrophy associated with a full deletion of the NPHP1 gene.

Methods: A 30-year-old man with a history of end-stage renal disease presented with progressive vision loss in early adulthood prompting evaluation for retinal disease. Ophthalmic evaluation was performed including visual fields, electroretinography, spectral domain optical coherence tomography and short-wavelength and near-infrared fundus autofluorescence imaging.

Efficacy of an Intranasal Tear Neurostimulator in Sjögren Syndrome Patients.

Purpose: To assess the efficacy and safety of an intranasal tear neurostimulator (ITN) device in Sjögren syndrome (SS) patients.

Methods: This was a two-visit prospective, randomized, controlled, same-day crossover study in participants with SS. Inclusion criteria were assessed at a baseline screening visit and included an Ocular Surface Disease Index (OSDI) score ≥13, and a Schirmer with anesthesia ≤10 mm/5 min (in at least one eye), with a cotton swab stimulation induced increase of ≥4 mm in the same eye.

Compound Heterozygous Mutations in ZNF408 in a Patient with a Late Onset Pigmentary Retinopathy and Relatively Preserved Central Retina.

Purpose: To describe in detail the phenotype of a patient with compound heterozygous mutations in ZNF408 and an adult-onset pigmentary retinopathy rather than familial exudative vitreoretinopathy as expected with heterozygous mutations in this gene.

Methods: A 70-year-old male presented with a pigmentary retinopathy, which prompted a genetic evaluation that revealed two variants in trans in the ZNF408 gene. He underwent an ophthalmic examination, kinetic fields, electroretinography (ERG), spectral-domain optical coherence tomography (SD-OCT), fundus autofluorescence, wide-angle fluorescein angiography and near-infrared imaging.

Bardet-Biedl syndrome-7 () shows treatment potential and a cone-rod dystrophy phenotype that recapitulates the non-human primate model.

: To provide a detailed ophthalmic phenotype of two male patients with Bardet-Biedl Syndrome (BBS) due to mutations in the gene: Two brothers ages 26 (Patient 1, P1) and 23 (P2) underwent comprehensive ophthalmic evaluations over three years. Visual function was assessed with full-field electroretinograms (ffERGs), kinetic and chromatic perimetry, multimodal imaging with spectral domain optical coherence tomography (SD-OCT), fundus autofluorescence (FAF) with short- (SW) and near-infrared (NIR) excitation lights and adaptive optics scanning light ophthalmoscopy (AOSLO).: Both siblings had a history of obesity and postaxial polydactyly; P2 had diagnoses of type 1 Diabetes Mellitus, Addison's disease, high-functioning autism-spectrum disorder and -12D myopia.

Detailed retinal phenotype of Boucher-Neuhäuser syndrome associated with mutations in mimicking choroideremia.

: To confirm the pathogenic role of a novel mutation in and detail the phenotype of a patient presenting with choroideremia-like chorioretinal degeneration. : A 40-year-old man with presumed choroideremia underwent a complete ophthalmic examination, full-field electroretinography (ERG), kinetic fields and two-color automated static perimetry and retinal imaging with spectral domain optical coherence tomography (SD-OCT) and near-infrared (NIR) and short wavelength (SW) fundus autofluorescence (FAF). : Visual acuity was 20/200 and 20/40 for the right and left eye, respectively, with a ~ 5D myopic correction.

Advances in dry eye disease treatment.

Purpose Of Review: The prevalence and burden of dry eye disease continues to grow at a rapid pace, creating an increased need for new therapies. In a sector once limited to only a handful of treatments, clinicians now have multiple options available for patients who fail traditional therapies. This review summarizes the various treatment options available to clinicians treating complex dry eye disease patients.

Iontophoretic delivery of dexamethasone phosphate for non-infectious, non-necrotising anterior scleritis, dose-finding clinical trial.

Unlabelled: Currently available treatment options for non-infectious scleritis, including non-steroidal anti-inflammatory drugs, systemic corticosteroids and immunosuppressive therapies, have both efficacy and side effect limitations. Iontophoretic delivery of corticosteroids has been demonstrated to be effective for anterior uveitis and represents a potential new approach to scleritis therapy. We hypothesised that iontophoretic delivery would provide effective and precise medication delivery to the sclera, while limiting systemic exposure and side effects.