Phenotypic heterogeneity of the mitochondrial DNA A8344G variant presenting with dorsal midbrain syndrome.

Purpose: To describe a neuro-ophthalmic presentation of a phenotypically heterogeneous mitochondrial DNA variant.

Observations: A 10-year-old female with gross motor developmental delay, absence seizures and ataxia subacutely developed poor near acuity and asthenopia. She was found to have accommodative insufficiency, impaired supraduction and convergence retraction nystagmus leading to a diagnosis of dorsal midbrain syndrome.

Active Learning to Characterize the Full Contrast Sensitivity Function in Cataracts.

Background: To characterize contrast sensitivity function (CSF) in cataractous and pseudophakic eyes compared to healthy control eyes using a novel quantitative CSF test with active learning algorithms.

Methods: This is a prospective observational study at an academic medical center. CSF was measured in eyes with visually significant cataract, at least 2+ nuclear sclerosis (NS) and visual acuity (VA) ≥ 20/50, in pseudophakic eyes and in healthy controls with no more than 1+ NS and no visual complaints, using the Manifold Contrast Vision Meter.

Sex-Specific Changes in Choroid Vasculature Among Patients with Schizophrenia and Bipolar Disorder.

Purpose: While structural changes within the retina of psychosis patients have been established, no detailed studies of choroidal microvasculature in these patients have been performed. Given evidence of microvascular disruption in psychosis patients, this study sought to determine whether there exists evidence of microvascular disruption in the choroids in these patients.

Methods: Fifty-six subjects (20 controls and 36 psychosis patients) were recruited from April 2018 to February 2020.

Retinal microvasculature and vasoreactivity changes in hypertension using optical coherence tomography-angiography.

Purpose: To evaluate the retinal vasculature and vasoreactivity of patients with hypertension (HTN) using spectral domain optical coherence tomography angiography (SD-OCTA).

Methods: Patients with and without a diagnosis of HTN were included in this cross-sectional observational study. All eyes were imaged with SD-OCTA using 3 mm × 3 mm and 6 mm × 6 mm centered on both the fovea and optic disk.

Quantitative contrast sensitivity test to assess visual function in central serous chorioretinopathy.

Background: To characterise the contrast sensitivity function (CSF) in central serous chorioretinopathy (CSCR) compared with healthy controls using novel computerised contrast sensitivity (CS) testing with active learning algorithms.

Methods: Prospective observational study measuring CSF in CSCR eyes and controls using the Manifold Platform (Adaptive Sensory Technology, San Diego, California). Mixed effects multivariate regression models were used.

Contrast sensitivity function in patients with macular disease and good visual acuity.

Introduction: Contrast sensitivity function (CSF) may better estimate a patient's visual function compared with visual acuity (VA). Our study evaluates the quick CSF (qCSF) method to measure visual function in eyes with macular disease and good letter acuity.

Methods: Patients with maculopathies (retinal vein occlusion, macula-off retinal detachment, dry age-related macular degeneration and wet age-related macular degeneration) and good letter acuity (VA ≥20/30) were included.

Retinal Imaging Findings in Carriers With PSEN1-Associated Early-Onset Familial Alzheimer Disease Before Onset of Cognitive Symptoms.

Importance: Individuals with autosomal dominant mutations for Alzheimer disease are valuable in determining biomarkers present prior to the onset of cognitive decline, improving the ability to diagnose Alzheimer disease as early as possible. Optical coherence tomography (OCT) has surfaced as a potential noninvasive technique capable of analyzing central nervous system tissues for biomarkers of Alzheimer disease.

Objective: To evaluate whether OCT can detect early retinal alterations in carriers of the presenilin 1 (PSEN1 [OMIM 104311]) E280A mutation who are cognitively unimpaired.

Disorganisation of retinal inner layers is associated with reduced contrast sensitivity in retinal vein occlusion.

Background/aims: To determine if disorganisation of retinal inner layers (DRIL) is associated with reduced contrast sensitivity (CS) in patients with retinal vein occlusion (RVO) with a history of macular oedema (ME).

Methods: Prospective, observational cohort study. Patients with a history of ME secondary to central retinal vein occlusion (CRVO) or branch retinal vein occlusion (BRVO) from October 2017 to July 2019 at a single institution were included.

Measuring Contrast Sensitivity Function With Active Learning in Retinal Vein Occlusion: A New Endpoint of Visual Function.

Background And Objective: To characterize contrast sensitivity function (CSF) in patients with retinal vein occlusion (RVO) compared to age-matched controls using novel computerized contrast sensitivity (CS) testing with active learning algorithms.

Patients And Methods: CSF was prospectively measured in RVO patients with visual acuity (VA) greater than 20/200 and age-matched controls using the novel Manifold Contrast Vision Meter implementing quantitative CSF testing. Outcomes included area under the Log CSF (AULCSF), contrast acuity (CA), and CS thresholds at 1, 1.

BILATERAL EPIRETINAL MEMBRANE FORMATION AFTER INTRAVITREAL INJECTIONS OF AUTOLOGOUS MESENCHYMAL STEM CELLS.

Purpose: The authors describe a case of new bilateral epiretinal membranes and vitreous cells after intravitreal and sub-Tenon's injections of bone marrow-derived stem cells.

Methods: A case report of a 43-year-old man with OPA-1 autosomal dominant optic atrophy who self-enrolled in a stem cell therapy clinical trial and received simultaneous bilateral intravitreal and sub-Tenon's injections of bone marrow-derived stem cells.

Results: Within one month of receiving the injections, the patient developed epiretinal membranes and vitreous cells in both eyes, seen with optical coherence tomography.

Retinal layer abnormalities and their association with clinical and brain measures in psychotic disorders: A preliminary study.

Studies utilizing optical coherence tomography (OCT) in psychosis have identified abnormalities in retinal cytoarchitecture. We aim to analyze retinal layer topography in psychosis and its correlation with clinical and imaging parameters. Macular retinal images were obtained via OCT in psychosis probands (n = 25) and healthy controls (HC, n = 15).

CLOSURE OF SMALL MACULAR HOLES USING VITRECTOMY SURGERY WITH INTERNAL LIMITING MEMBRANE PEELING WITHOUT THE USE OF INTRAOCULAR GAS TAMPONADE: BROADENING THE UNDERSTANDING OF THE MACULAR HOLE PATHOPHYSIOLOGY.

Purpose: To determine whether small macular hole closure can be achieved with 25-G vitrectomy surgery with internal limiting membrane peeling without the use of intraocular gas tamponade or facedown positioning.

Methods: 25-G vitrectomy surgery with internal limiting membrane peeling without the use of intraocular gas tamponade or positioning was performed on 20 eyes with a small (<400-µm diameter), full-thickness macular hole.

Results: In 17 of 20 eyes (85%), the hole had closed.

Intensive multidisciplinary weight management in patients with type 1 diabetes and obesity: A one-year retrospective matched cohort study.

Aims: Recent studies report that approximately 50% of patients with type 1 diabetes (T1D) are overweight or obese. This work studies the effects of intensive multidisciplinary weight management (IMWM) in patients with T1D and obesity.

Methods: We retrospectively evaluated 68 patients with T1D and obesity who enrolled in a 12-week IMWM program (IMWM cohort: mean age, 42 ± 11 years; HbA1c, 8.

Weight Management in Patients with Type 1 Diabetes and Obesity.

Purpose Of Review: Patients with type 1 diabetes (T1D) are typically viewed as lean individuals. However, recent reports showed that their obesity rate surpassed that of the general population. Patients with T1D who show clinical signs of type 2 diabetes such as obesity and insulin resistance are considered to have "double diabetes.