FEVR-Like Presentation of Homocystinuria

A male infant with a diagnosis of homocystinuria presented with avascularity of the peripheral retina with a ridge on ophthalmic exam, consistent with a FEVR-like manifestation homocystinuria. Upon follow-up and treatment for homocystinuria, the retinal vascularity improved without the need for prophylactic treatment to the peripheral avascular retina

Can children undergoing ophthalmologic examinations under anesthesia be safely anesthetized without using an IV line?

To document that with proper patient and procedure selection, children undergoing general inhalational anesthesia for ophthalmologic exams (with or without photos, ultrasound, laser treatment, peri-ocular injection of chemotherapy, suture removal, and/or replacement of ocular prosthesis) can be safely anesthetized without the use of an intravenous (IV) line. Children are rarely anesthetized without IV access placement. We performed a retrospective study to determine our incidence of IV access placement during examinations under anesthesia (EUA) and the incidence of adverse events that required intraoperative IV access placement. Data collected from our operating room (OR) information system includes but is not limited to diagnosis, anesthesiologist, surgeon, and location of IV catheter (if applicable), patient's date of birth, actual procedure, and anesthesia/procedure times. We reviewed the OR and anesthetic records of children (>1 month and <10 years) who underwent EUAs between January 1, 2003 and May 31, 2009. We determined the percentage of children who were anesthetized without IV access placement, as well as the incidence of any adverse events that required IV access placement, intraoperatively. We analyzed data from 3196 procedures performed during a 77-month period. Patients' ages ranged from 1 month to 9 years. Overall, 92% of procedures were performed without IV access placement. Procedure duration ranged from 1-39 minutes. Reasons for IV access placement included parental preference for antinausea medication and/or attending preference for IV access placement. No child who underwent anesthesia without an IV line had an intraoperative adverse event requiring insertion of an IV line. Our data suggest that for children undergoing general anesthesia for ophthalmologic exams (with or without photos, ultrasound, laser treatment, intraocular injection of chemotherapy, suture removal, and/or replacement of ocular prosthesis), anesthesia can be safely conducted without placement of an IV line

Stargardt macular dystrophy and evolving therapies

Introduction: Stargardt macular dystrophy (STGD1) is a hereditary retinal degeneration that lacks effective treatment options. Gene therapy, stem cell therapy, and pharmacotherapy with visual cycle modulators (VCMs) and complement inhibitors are discussed as potential treatments. Areas covered: Investigational therapies for STGD1 aim to reduce toxic bisretinoids and lipofuscin in the retina and retinal pigment epithelium (RPE). These agents include C20-D3-vitamin A (ALK-001), isotretinoin, VM200, emixustat, and A1120. Avacincaptad pegol is a C5 complement inhibitor that may reduce inflammation-related RPE damage. Animal models of STGD1 show promising data for these treatments, though proof of efficacy in humans is lacking. Fenretinide and emixustat are VCMs for dry AMD and STGD1 that failed to halt geographic atrophy progression or improve vision in trials for AMD. A1120 prevents retinol transport into RPE and may spare side effects typically seen with VCMs (nyctalopia and chromatopsia). Stem cell transplantation suggests potential biologic plausibility in a phase I/II trial. Gene therapy aims to augment the mutated ABCA4 gene, though results of a phase I/II trial are pending. Expert opinion: Stem cell transplantation, ABCA4 gene therapy, VCMs, and complement inhibitors offer biologically plausible treatment mechanisms for treatment of STGD1. Further trials are warranted to assess efficacy and safety in humans

Approaches to the Repair of Diabetic Traction Retinal Detachments

Purpose of Review To review the diagnosis, surgical evaluation, surgical techniques, and outcomes of vitrectomy for tractional retinal detachments (TRDs) in patients with diabetes. Recent Findings Tractional retinal detachment is the leading cause of blindness in patients with diabetes. They account for 40% of all vitrectomies in patients with proliferative diabetic retinopathy. The use of small gauge microincisional vitrectomy systems, enhanced visualization, anti-VEGF, and optimized instrumentation and surgical techniques have revolutionized the treatment and outcomes of TRD repair. Although anatomical and visual acuity outcomes of TRD repair have greatly improved over the past 4 decades, further research is needed to reduce post-operative complications and improve final visual acuity. Summary Proper preoperative planning is essential to minimize intraoperative complications of TRD repair. Small gauge instrumentation allows for precise and controlled fibrovascular membrane removal and relief of traction, providing excellent reattachment rates and limiting post-operative complications

Congenital Glaucoma Related Retinal Detachment - Chapter 37

Congenital glaucoma is a rare inherited condition in which the increased intraocular pressure is detected shortly after birth. The retinal detachment related to this condition is rare but it can lead to a poor visual outcome if left untreated. The awareness of this condition by the treating physicians leads to the early detection and treatment. Therefore, the patients can maintain their useful visions afterwards. This chapter will discuss in details of congenital glaucoma related retinal detachment and the applications for ophthalmologists

Diagnostic and Management Strategies in Patients with Persistent Fetal Vasculature: Current Insights

Persistent fetal vasculature (PFV), previously known as persistent hyperplastic primary vitreous, is a developmental malformation of the eyes that is caused by a failure of the hyaloid vasculature to regress in utero. PFV has been reported for decades; however, our understanding of the pathophysiology/pathogenesis of PFV, and the diagnostic and treatment modalities for PFV have evolved over time, and these advancements have improved diagnosis, treatment, and outcomes. However and in spite of these advancements, the heterogeneity of this disease continues to make PFV a diagnostic challenge. Here, we review what is currently known about various important aspects of PFV to update and enhance the knowledge of ophthalmologists who encounter and manage PFV in clinical practice

Retinopathy of Prematurity Related Late Rhegmatogenous Retinal Detachment - Chapter 35

Retinopathy of prematurity is a neovascular disease of premature infants and the natural history of this disease has been extensively described. Long term sequelae and complications has been less investigated. Retinal detachment is vision threating in these patients; tractional and exudative retinal detachments are usually presented earlier in age; rhegmatogenous detachments tent to occur more commonly later in life secondary to abnormal vitreoretinal interface changes. Different surgical approaches can be used to treat this complication. Either vitrectomy, scleral buckle or combination of both techniques are recommended depending on the case