ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder.

Purpose: To identify the molecular cause in five unrelated families with a distinct autosomal dominant ocular systemic disorder we called ROSAH syndrome due to clinical features of retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache.

Methods: Independent discovery exome and genome sequencing in families 1, 2, and 3, and confirmation in families 4 and 5. Expression of wild-type messenger RNA and protein in human and mouse tissues and cell lines.

Blepharospasm in children and adolescents.

Purpose: Benign essential blepharospasm (BEB) generally is considered a disorder of adults; however, it rarely can present in childhood or adolescence. The main purpose of this study was to determine the prevalence of BEB in children and adolescents. Our research question was whether blepharospasm is seen in children or adolescents as well as in the adult population.

Effect of intraocular lens glistening size on visual quality.

Purpose: To determine whether intraocular glistenings have an impact on light scatter and visual function.

Setting: John A. Moran Eye Center Laboratories, University of Utah, Salt Lake City, Utah, USA.

Chronic migraine is associated with reduced corneal nerve fiber density and symptoms of dry eye.

Background: We used in vivo corneal confocal microscopy to investigate structural differences in the sub-basal corneal nerve plexus in chronic migraine patients and a normal population. We used a validated questionnaire and tests of lacrimal function to determine the prevalence of dry eye in the same group of chronic migraine patients. Activation of the trigeminal system is involved in migraine.

Adalimumab and Non-Arteritic Anterior Ischaemic Optic Neuropathy: A Case Report.

Sequential anterior ischaemic optic neuropathy was observed in a patient treated with a tumour necrosis factor α (TNF) inhibitor, adalimumab, for ankylosing spondylitis. He developed decreased visual acuity in the right eye after 17 months of treatment. Findings showed right optic disc oedema with haemorrhages and visual field defect.

Neuro-ophthalmic disorders in pregnancy.

Purpose Of Review: This review discusses evaluation and treatment of neuro-ophthalmic disorders in the pregnant patient.

Recent Findings: Any neuro-ophthalmic abnormality seen in nonpregnant women can be seen in pregnant women. Pregnancy-specific complications (preeclampsia and eclampsia) cause visual symptoms and can affect the entire visual axis.

Correlation of visual quality with satisfaction and function in a normal cohort of pseudophakic patients.

Purpose: To select a normal post-cataract-surgery cohort, determine visual quality parameters, and compare these parameters with self-reported satisfaction and visual function.

Setting: John A. Moran Eye Center, University of Utah, Salt Lake City, Utah, USA.

Comparison of stromal hydration techniques for clear corneal cataract incisions: conventional hydration versus anterior stromal pocket hydration.

Anterior stromal pocket hydration was compared with conventional hydration for preventing wound leak after 2.8 mm uniplanar clear corneal incisions (CCIs) in patients having routine cataract surgery. Conventional hydration involves hydration of the lateral walls of the main incision with visible whitening of the stroma.

Comparison of Hanna and Hessburg-Barron trephine and punch systems using histological, anterior segment optical coherence tomography, and elliptical curve fitting models.

Background: This study analyzes the characteristics of donor and recipient tissue preparation between the Hessburg-Barron and Hanna punch and trephine systems by using elliptical curve fitting models, light microscopy, and anterior segment optical coherence tomography (AS-OCT).

Methods: Eight millimeter Hessburg-Barron and Hanna vacuum trephines and punches were used on six cadaver globes and six corneal-scleral rims, respectively. Eccentricity data were generated using measurements from photographs of the corneal buttons and were used to generate an elliptical curve fit to calculate properties of the corneal button.

Femtosecond-assisted preparation of donor tissue for Boston type 1 keratoprosthesis.

We describe a technique for femtosecond laser-assisted preparation of donor tissue for Boston type 1 keratoprosthesis to provide accurate double punching of the donor tissue for optimized alignment in the visual axis. The technique was reproducibly performed in four donor corneas mounted in an artificial anterior chamber. This technique can provide optically centered donor tissue with smooth trephinated edges.

A fluidics comparison of Alcon Infiniti, Bausch & Lomb Stellaris, and Advanced Medical Optics Signature phacoemulsification machines.

Purpose: To compare three phacoemulsification machines for measurement accuracy and postocclusion surge (POS) in human cadaver eyes.

Design: In vitro comparisons of machine accuracy and POS.

Methods: Tip vacuum and flow were compared with machine indicated vacuum and flow.

Neural reprogramming in retinal degeneration.

Purpose: Early visual defects in degenerative diseases such as retinitis pigmentosa (RP) may arise from phased remodeling of the neural retina. The authors sought to explore the functional expression of ionotropic (iGluR) and group 3, type 6 metabotropic (mGluR6) glutamate receptors in late-stage photoreceptor degeneration.

Methods: Excitation mapping with organic cations and computational molecular phenotyping were used to determine whether retinal neurons displayed functional glutamate receptor signaling in rodent models of retinal degeneration and a sample of human RP.

Molecular mapping of the binding site for a blocker of hyperpolarization-activated, cyclic nucleotide-modulated pacemaker channels.

Hyperpolarization-activated, cyclic nucleotide-modulated (HCN) channels mediate rhythmic electrical activity of neural and cardiac pacemaker cells. Drugs that block these channels slow the beating rate of the heart and are used to treat angina. Here, we characterized the effect of the HCN channel blocker, ZD7288 [4-(N-ethyl-N-phenylamino)-1,2-dimethyl-6-(methylamino) pyrimidinium chloride] on HCN2 channels that were heterologously expressed in Xenopus oocytes.

Molecular mapping of a site for Cd2+-induced modification of human ether-à-go-go-related gene (hERG) channel activation.

Cd(2+) slows the rate of activation, accelerates the rate of deactivation and shifts the half-points of voltage-dependent activation (V(0.5,act)) and inactivation (V(0.5,inact)) of human ether-à-go-go-related gene (hERG) K(+) channels.