Fetal Presentation of MYRF-Related Cardiac Urogenital Syndrome: An Emerging and Challenging Prenatal Diagnosis.

Purpose: MYRF-related cardiac-urogenital syndrome (MYRF-CUGS) is a rare condition associated with heterozygous MYRF variants. The description of MYRF-CUGS phenotype is mostly based on postnatal cases and 36 affected individuals have been published so far. We aim now to delineate the prenatal phenotype of MYRF-CUGS by reporting clinical data from fetuses and neonates with a pathogenic MYRF variant.

A novel interaction between RNA mA methyltransferase METTL3 and RREB1.

Regulation of gene expression is achieved through the modulation of regulatory inputs both pre- and post-transcriptionally. Methyltransferase-like 3 (METTL3) is a key player in pre-mRNA processing, actively catalyzing N6-methyladenosine (m6A). Among the most enriched mRNA targets of METTL3 is the Ras Responsive Element Binding Protein 1 (RREB1), a transcription factor which functions to govern cell fate, proliferation and DNA repair.

Demographic and Metabolic Risk Factors Associated with Development of Diabetic Macular Edema among Persons with Diabetes Mellitus.

Purpose: Diabetic macular edema (DME), a leading cause of visual impairment, can occur regardless of diabetic retinopathy (DR) stage. Poor metabolic control is hypothesized to contribute to DME development, although large-scale studies have yet to identify such an association. This study aims to determine whether measurable markers of dysmetabolism are associated with DME development in persons with diabetes.

Assessment of hearing dysfunction in patients with Graves' disease and thyroid eye disease without or with teprotumumab.

Importance: Thyroid eye disease (TED) negatively impacts quality of life. TED occurs predominantly in Graves' disease (GD). Teprotumumab improves TED but concern for hearing adverse events (AEs) has emerged.

Staged Excision Technique for Periocular Cutaneous Melanoma: Long-Term Outcomes of the Square Procedure.

Purpose: To examine the long-term outcome of the staged excision via the square procedure for the treatment of periocular thin cutaneous melanoma.

Methods: A retrospective chart review of 95 periocular cutaneous melanoma-in-situ and microinvasive melanoma tumors that were treated with the square procedure between April 1, 1994 and December 31, 2018 at the University of Michigan. Demographic and clinical data were evaluated.

Quantitative Biomarkers of Diabetic Retinopathy Using Ultra-Widefield Fluorescein Angiography.

Introduction: Diabetic retinopathy (DR) is a leading cause of blindness. Retinal imaging is an important tool to monitor the progression of DR. While seven-standard retinal fields are the traditional method for evaluating DR, ultra-widefield (UWF) imaging allows for improved visualization of peripheral areas of nonperfusion (NP) and neovascularization (NV), which could be used as biomarkers to monitor and predict progression of DR.

Posterior Uveitis in Ocular-Involving Chronic Lymphocytic Leukemia and the Utility of Negative MYD88 L265P Testing in the Diagnosis.

Introduction: The aim of this study was to investigate if a negative test result for L265P mutation, associated with vitreoretinal lymphoma (VRL) and primary CNS lymphoma, in liquid biopsies from intraocular fluids can be a useful adjuvant test to diagnose chronic lymphocytic leukemia in clinically challenging cases.

Case Presentations: We selected patients with a past medical history or examinations findings suspicious for intraocular lymphoma. We evaluated both vitreous and aqueous humor-derived (AHD) L265P mutation from patients that had suspected intraocular lymphoma that warranted a liquid biopsy procedure.

Social Determinants of Health and Glaucoma Screening and Detection in the SIGHT Studies.

Prcis: Targeted glaucoma screenings in populations with high levels of poverty and high proportions of people who identify as African American or Hispanic/Latino identified a 27% rate of glaucoma and suspected glaucoma, which is 3 times the national average.

Purpose: To describe the neighborhood-level social risk factors across the 3 SIGHT Study sites and assess potential characteristics of these populations to help other researchers effectively design and implement targeted glaucoma community-based screening and follow-up programs in high-risk groups.

Methods/results: In 2019, Columbia University, the University of Michigan, and the University of Alabama at Birmingham each received 5 years of CDC funding to test a wide spectrum of targeted telehealth delivery methods to detect glaucoma in community-based health delivery settings among high-risk populations.

Quiescence enables unrestricted cell fate in naive embryonic stem cells.

Quiescence in stem cells is traditionally considered as a state of inactive dormancy or with poised potential. Naive mouse embryonic stem cells (ESCs) can enter quiescence spontaneously or upon inhibition of MYC or fatty acid oxidation, mimicking embryonic diapause in vivo. The molecular underpinning and developmental potential of quiescent ESCs (qESCs) are relatively unexplored.

Using Natural Language Processing to Identify Different Lens Pathology in Electronic Health Records.

Purpose: Nearly all published ophthalmology-related Big Data studies rely exclusively on International Classification of Diseases (ICD) billing codes to identify patients with particular ocular conditions. However, inaccurate or nonspecific codes may be used. We assessed whether natural language processing (NLP), as an alternative approach, could more accurately identify lens pathology.

Novel tactile bottle neck adaptor facilitates eye drop adherence in visually impaired patients.

Purpose: To test the use of Ring-IT, a novel 3D tactile bottle neck adaptor in topical eye drop adherence in visually impaired patients.

Methods: Bottle neck ring adaptors with either one, two or three protrusions with cube or sphere endings were designed. In phase 1, low vision was simulated in healthy subjects (n=20) with a 20/200 vision simulator; while in phase 2, visually impaired patients (n=26; 20/70 or worse) were recruited.

Molecular Analysis of Liquid Vitreous Biopsy Reveals Occult Lymphoma Following Cytology-Negative Biopsies of the Brain and Vitreous.

Purpose: Primary central nervous system lymphoma (PCNSL) is a rare but deadly malignancy that principally affects adults in the fifth and sixth decades of life. Despite diagnostic advances in analyses of cerebral spinal fluid and neuroimaging, definitive diagnosis of PCNSL requires primary brain tissue biopsy. While small neurosurgical biopsy volumes are pursued to minimize removal of normal brain tissue, the spatial margins to precisely biopsy pathologic tissue are narrow and can result in missed diagnoses.

Resolution of cyclic esotropia with 5-year follow-up after brief Fresnel prism treatment.

Cyclic esotropia is a rare form of strabismus that is characterized by a recurring esotropic deviation, usually with a 48-hour cycle. On esotropic days, the patient has a constant deviation with suppression, followed by a day with straight eyes and good binocular function. We report a case of cyclic esotropia in which the cycling resolved with 2 months of Fresnel prism for the amount of the distance deviation on her "straight" days.

Compassionomics: The Science and Practice of Caring.

Purpose: To summarize the scientific evidence that compassion can measurably improve patient outcomes, health care quality and safety, and the well-being of health care providers, and to consider specific strategies for cultivating compassion and better communicating it to patients.

Design: Perspective.

Methods: We selectively reviewed the literature on compassion in health care, including obstacles to its expression and the demonstrated effects of provider compassion on patient outcomes, health care quality and cost, and provider well-being.

Cushing's syndrome of the orbit: congestive orbitopathy and optic neuropathy associated with steroids.

A 56-year-old female with a history of chronic systemic steroid use for asthma control displayed orbital congestion, exophthalmos, a mild abduction deficit, and optic neuropathy. Laboratory workup was unrevealing. Neuroimaging showed increased orbital fat compartments, though the orbital fat was unremarkable on biopsy.

Retinal Detachments after Open-Globe Injury: Risk Factors and Outcomes.

Purpose: To identify risk factors for retinal detachment (RD) after open-globe injury (OGI) and evaluate outcomes of RD repair after OGI.

Design: Case-control study.

Participants: Overall, 769 patients presented with 786 OGIs, which were surgically managed with ≥ 30 days of follow-up.