A Health-Related Quality of Life Measure for Patients Who Undergo Minimally Invasive Glaucoma Surgery.

Purpose: To develop a patient-reported outcome measure to assess the impact of glaucoma and treatment, including minimally invasive glaucoma surgery (MIGS).

Design: Observational study before and after concomitant cataract and Food and Drug Administration-approved implantable MIGS device surgery.

Setting: Survey administration was on a computer, iPad, or similar device.

Agreement of Serial iCare HOME2 and Goldmann Applanation Tonometry.

Purpose: To assess agreement of iCare HOME2 and Goldmann applanation tonometry over a wide range of intraocular pressure (IOP).

Design: A prospective, observational cohort study.

Subjects: Twenty-six adult patients undergoing intravitreal injection, which temporarily raises IOP, were recruited from the Palo Alto Medical Foundation Retina Clinic between October 2022 and February 2023.

Ocular and visual perceptive factors associated with treatment outcomes in patients with anisometropic amblyopia.

Background: The aim of this observational study was to identify ocular and visual perceptive risk factors related to treatment results following refractive correction and patching in children with anisometropic amblyopia, who were between the ages of 4 to 14 years old.

Methods: One-hundred and two children with newly diagnosed anisometropic amblyopia were recruited. Successful treatment of amblyopia was defined as the final best corrected visual acuity (BCVA) better than or equal to 0.

Clinical characteristics, rates of blindness, and geographic features of PACD in China.

Objective: To analyze the rates of blindness with the demographics and clinical characteristics of patients with primary angle-closure disease (PACD) to provide a comprehensive epidemiologic reference in China.

Methods: A retrospective analysis was conducted in the Chinese Glaucoma Study Consortium database, which is a national multicenter glaucoma research alliance of 111 hospitals participating between December 21, 2015 and September 9, 2018. The diagnosis of PACD was made by qualified physicians through examination.

Characterization of a variant of gap junction protein α8 identified in a family with hereditary cataract.

Purpose: Congenital cataracts occur in isolation in about 70% of cases or are associated with other abnormalities such as anterior segment dysgenesis and microphthalmia. We identified a three-generation family in the University of California San Francisco glaucoma clinic comprising three individuals with congenital cataracts and aphakic glaucoma, one of whom also had microphthalmia. The purpose of this study was to identify a possible causative mutation in this family and to investigate its pathogenesis.

Normal-Tension Glaucoma Masqueraders: Detection Using Optical Coherence Tomography.

Purpose: Optical coherence tomography (OCT) has become an important tool in the diagnosis and management of glaucoma; however, there can be overlap in the OCT findings between glaucoma and other diseases. We describe the clinical examination finings and interpretation of OCT imaging that led to the diagnosis of glaucoma masqueraders in a clinical case series.

Materials And Methods: Four adult patients seen in the glaucoma clinic at the Duke Eye Center were included in a retrospective observational case series.

Orbital compartment syndrome following retrobulbar injection of amphotericin B for invasive fungal disease.

Purpose: To describe a complication of retrobulbar amphotericin B injections in the treatment of invasive rhino-orbital .

Observations: 27 year-old renal transplant recipient presented with a two-week history of headache, binocular diplopia and proptosis of the left eye. Endonasal biopsy on hospital day 3 confirmed the diagnosis of rhino-orbital invasive involving the left orbital apex.

Correlation of Serial Scleral and Corneal Pneumatonometry.

Purpose: To evaluate the usefulness of scleral pneumatonometry as an alternative for corneal measurements of intraocular pressure (IOP) over a broad range of IOPs.

Design: Prospective, observational cohort study.

Participants: The study was conducted in the University of California, San Francisco, Retina Clinic between August and November 2013 in 33 adult patients (age range, 34-94 years; mean ± standard deviation, 74.

The short-term effects of exercise on intraocular pressure, choroidal thickness and axial length.

Purpose: To explore ocular changes in healthy people after exercise.

Methods: Twenty five volunteers underwent exercise for 15 minutes on a treadmill. Measurements of choroidal thickness, intraocular pressure (IOP), ocular biometry, and blood pressure were taken before and after exercise.

Allelic heterogeneity contributes to variability in ocular dysgenesis, myopathy and brain malformations caused by Col4a1 and Col4a2 mutations.

Collagen type IV alpha 1 and 2 (COL4A1 and COL4A2) are present in nearly all basement membranes. COL4A1 and COL4A2 mutations are pleiotropic, affecting multiple organ systems to differing degrees, and both genetic-context and environmental factors influence this variable expressivity. Here, we report important phenotypic and molecular differences in an allelic series of Col4a1 and Col4a2 mutant mice that are on a uniform genetic background.

Controlling the number of melanopsin-containing retinal ganglion cells by early light exposure.

A small percentage of retinal ganglion cells (RGCs) express melanopsin and are intrinsically photosensitive (ipRGCs). Whether light can affect the development of ipRGCs is not clear. In the rat retina, we found constant light exposure during the first postnatal week significantly increased the number of melanopsin immunopositive ipRGCs.

COL4A1 and COL4A2 mutations and disease: insights into pathogenic mechanisms and potential therapeutic targets.

Heterotrimers composed of collagen type IV alpha 1 (COL4A1) and alpha 2 (COL4A2) constitute one of the most abundant components of nearly all basement membranes. Accordingly, mutations in COL4A1 or COL4A2 are pleiotropic and contribute to a broad spectrum of disorders, including myopathy, glaucoma and hemorrhagic stroke. Here, we summarize the contributions of COL4A1 and COL4A2 mutations in human disease, integrate knowledge gained from model organisms and evaluate the implications for pathogenic mechanisms and therapeutic approaches.

COL4A2 mutation associated with familial porencephaly and small-vessel disease.

Familial porencephaly, leukoencephalopathy and small-vessel disease belong to the spectrum of disorders ascribed to dominant mutations in the gene encoding for type IV collagen alpha-1 (COL4A1). Mice harbouring mutations in either Col4a1 or Col4a2 suffer from porencephaly, hydrocephalus, cerebral and ocular bleeding and developmental defects. We observed porencephaly and white matter lesions in members from two families that lack COL4A1 mutations.

Congenital solitary eyelid trichoepithelioma.

Trichoepitheliomas are unusual, benign tumors of hair follicle origin. They may present in children and adults as acquired lesions on the body and face, but they rarely involve the eyelids. Solitary trichoepitheliomas have not previously been reported in infants.

Inactivation of Cdc13p triggers MEC1-dependent apoptotic signals in yeast.

Inactivation of the budding yeast telomere binding protein Cdc13 results in abnormal telomeres (exposed long G-strands) and activation of the DNA damage checkpoint. In the current study, we show that inactivation of Cdc13p induces apoptotic signals in yeast, as evidenced by caspase activation, increased reactive oxygen species production, and flipping of phosphatidylserine in the cytoplasmic membrane. These apoptotic signals were suppressed in a mitochondrial (rho(o)) mutant.