Novel heterozygous variant identified in a patient with spinocerebellar ataxia type 14 and macular dystrophy.

Purpose: To report on a patient with spinocerebellar ataxia type 14 (SCA14) and macular dystrophy with identification of a novel variant.

Methods: Case report.

Results: A 63-year-old female with molecularly confirmed SCA14 presented with symmetric pigmentary disturbances in a perifoveal distribution resembling a pattern macular dystrophy.

Gene therapy for cross-correction of somatic organs and the CNS in mucopolysaccharidosis II in rodents and non-human primates.

Mucopolysaccharidosis II (MPS II) is a rare lysosomal storage disease characterized by deficient activity of iduronate-2-sulfatase (I2S), leading to pathological accumulation of glycosaminoglycans (GAGs) in tissues. We used iduronate-2-sulfatase knockout ( KO) mice to investigate if liver-directed recombinant adeno-associated virus vectors (rAAV8-LSP-h) encoding human I2S (hI2S) could cross-correct I2S deficiency in KO mouse tissues, and we then assessed the translation of mouse data to non-human primates (NHPs). Treated mice showed sustained hepatic hI2S production, accompanied by normalized GAG levels in somatic tissues (including critical tissues such as heart and lung), indicating systemic cross-correction from liver-secreted hI2S.

Effect of Macular Internal Limiting Membrane Peeling on Single Surgery Success Rates of Vitrectomy for Uncomplicated, Primary Macula-Off Retinal Detachment.

To determine the anatomic and visual outcomes of pars plana vitrectomy for uncomplicated, primary macula-off rhegmatogenous retinal detachment (RRD) with and without internal limiting membrane (ILM) peeling. This retrospective chart review comprised 129 patients with uncomplicated, primary macula-off RRD presenting between January 1, 2016, and May 31, 2021. Thirty-six patients (27.

PHACOVITRECTOMY FOR PRIMARY RHEGMATOGENOUS RETINAL DETACHMENT REPAIR: A Retrospective Review.

Purpose: To analyze the single surgery success rate and anterior segment complications related to phacoemulsification and intraocular lens implantation in a series of patients undergoing phacovitrectomy for all types of primary rhegmatogenous retinal detachment.

Methods: We performed a retrospective interventional case series on 302 eyes undergoing phacovitrectomy for primary rhegmatogenous retinal detachment repair between November 1, 2016, and February 2, 2019, in Edmonton, Canada. Primary outcomes included single surgery retinal reattachment rate and anterior segment complications.

Leveraging Quantitative Systems Pharmacology Approach into Development of Human Recombinant Follistatin Fusion Protein for Duchenne Muscular Dystrophy.

Quantitative understanding about the dynamics of drug-target interactions in biological systems is essential, especially in rare disease programs with small patient populations. Follistatin, by antagonism of myostatin and activin, which are negative regulators of skeletal muscle and inflammatory response, is a promising therapeutic target for Duchenne Muscular Dystrophy. In this study, we constructed a quantitative systems pharmacology model for FS-EEE-Fc, a follistatin recombinant protein to investigate its efficacy from dual target binding, and, subsequently, to project its human efficacious dose.

Comparison of Residual Subfoveal Fluid by Intraoperative OCT After Macula-Involving RRD Repair Using Direct Drainage, Drainage Retinotomy, or Perfluoro-n-Octane.

Background And Objective: This study evaluated the residual subfoveal fluid (SFF) immediately after rhegmatogenous retinal detachment (RRD) repair using intraoperative optical coherence tomography (iOCT).

Patients And Methods: This retrospective cohort study assessed fovea-involving RRD repaired by pars plana vitrectomy (PPV) using different drainage techniques. iOCT images were acquired through the fovea at the start of the case prior to initiating vitrectomy and then again immediately prior to introduction of tamponade.

Are the changes in diagnostic criteria for gestational diabetes mellitus reflected in perinatal outcomes? A retrospective assessment.

Background: Gestational diabetes mellitus (GDM) is glucose intolerance first diagnosed during pregnancy not due to overt diabetes. Recent changes to the diagnostic guidelines have been shown to increase the apparent occurrence of GDM.

Aim: The aim of this study was to compare retrospectively the neonatal outcomes between groups defined using the new and old criteria to assess the impact of guideline changes on pregnancy outcomes.

Myostatin and activin blockade by engineered follistatin results in hypertrophy and improves dystrophic pathology in mdx mouse more than myostatin blockade alone.

Background: Myostatin antagonists are being developed as therapies for Duchenne muscular dystrophy due to their strong hypertrophic effects on skeletal muscle. Engineered follistatin has the potential to combine the hypertrophy of myostatin antagonism with the anti-inflammatory and anti-fibrotic effects of activin A antagonism.

Methods: Engineered follistatin was administered to C57BL/6 mice for 4 weeks, and muscle mass and myofiber size was measured.

TOPICAL DORZOLAMIDE-TIMOLOL WITH INTRAVITREOUS ANTI-VASCULAR ENDOTHELIAL GROWTH FACTOR FOR RETINAL VEIN OCCLUSION: A PILOT STUDY.

Purpose: To evaluate topical dorzolamide hydrochloride-timolol maleate as an adjunct therapy to intravitreous anti-vascular endothelial growth factor injections in eyes with retinal vein occlusion resistant to treatment.

Methods: Retinal vein occlusion patients with a history of persistent macular edema, despite fixed-interval intravitreous anti-vascular endothelial growth factor injections, were enrolled between April 4, 2016, and June 4, 2017. On enrollment, patients were instructed to administer one drop of topical dorzolamide-timolol twice daily for the duration of the study.

Protein Engineering on Human Recombinant Follistatin: Enhancing Pharmacokinetic Characteristics for Therapeutic Application.

Follistatin (FS) is an important regulatory protein, a natural antagonist for transforming growth factor-β family members activin and myostatin. The diverse biologic roles of the activin and myostatin signaling pathways make FS a promising therapeutic target for treating human diseases exhibiting inflammation, fibrosis, and muscle disorders, such as Duchenne muscular dystrophy. However, rapid heparin-mediated hepatic clearance of FS limits its therapeutic potential.

Patient Comfort with Yellow (577 nm) vs. Green (532 nm) Laser Panretinal Photocoagulation for Proliferative Diabetic Retinopathy.

Purpose: Pain associated with panretinal photocoagulation (PRP) can adversely affect the number and quality of retinal burns delivered and subsequently increase the number of treatment sessions required to achieve regression of proliferative diabetic retinopathy (PDR). We assessed comfort in patients undergoing treatment with yellow (577 nm) vs. green (532 nm) PRP for PDR.

ETX2514 is a broad-spectrum β-lactamase inhibitor for the treatment of drug-resistant Gram-negative bacteria including Acinetobacter baumannii.

Multidrug-resistant (MDR) bacterial infections are a serious threat to public health. Among the most alarming resistance trends is the rapid rise in the number and diversity of β-lactamases, enzymes that inactivate β-lactams, a class of antibiotics that has been a therapeutic mainstay for decades. Although several new β-lactamase inhibitors have been approved or are in clinical trials, their spectra of activity do not address MDR pathogens such as Acinetobacter baumannii.

A CASE OF INTRAVESICAL BACILLUS CALMETTE-GUERIN-RELATED ENDOPHTHALMITIS AND RETINITIS CONFIRMED WITH RETINAL BIOPSY.

Purpose: To present a rare case of bilateral endogenous chorioretinitis and unilateral endophthalmitis due to Mycobacterium bovis in a patient who received intravesical bacillus Calmette-Guerin (BCG) treatment.

Methods: We present a case of a single male patient with bilateral endogenous chorioretinitis due to Mycobacterium bovis in a patient who received intravesical BCG, an attenuated strain of M. bovis widely used to treat superficial bladder cancer.

BILATERAL OCCIPITAL POLE HYPERTENSIVE STROKE DIAGNOSED WITH MACULAR INTEGRITY ASSESSMENT (MAIA) MICROPERIMETRY.

Purpose: To describe the utility of microperimetry testing in the diagnosis of a bilateral occipital stroke.

Methods: Retrospective case report.

Results: A 57-year-old male with hypertension presented with complaints of bilateral blurred central vision and bilateral hypertensive retinopathy with cotton-wool spots.

Cataract surgery and age-related macular degeneration.

Purpose Of Review: The following review describes the recent evidence regarding the effect of cataract surgery on age-related macular degeneration (AMD).

Recent Findings: For patients with both visually significant cataracts and AMD, recent evidence supports the role of cataract surgery with reports demonstrating improved visual acuity, absence of significant disease progression, and improved quality of life.

Summary: Recent evidence does not find cataract surgery to cause or worsen AMD.