Gene therapy for leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 years.

Objective: To determine the safety and efficacy of subretinal gene therapy in the RPE65 form of Leber congenital amaurosis using recombinant adeno-associated virus 2 (rAAV2) carrying the RPE65 gene.

Design: Open-label, dose-escalation phase I study of 15 patients (range, 11-30 years of age) evaluated after subretinal injection of the rAAV2- RPE65 vector into the worse-functioning eye. Five cohorts represented 4 dose levels and 2 different injection strategies.

Ab-externo AAV-mediated gene delivery to the suprachoroidal space using a 250 micron flexible microcatheter.

Background: The current method of delivering gene replacement to the posterior segment of the eye involves a three-port pars plana vitrectomy followed by injection of the agent through a 37-gauge cannula, which is potentially wrought with retinal complications. In this paper we investigate the safety and efficacy of delivering adeno-associated viral (AAV) vector to the suprachoroidal space using an ab externo approach that utilizes an illuminated microcatheter.

Methods: 6 New Zealand White rabbits and 2 Dutch Belted rabbits were used to evaluate the ab externo delivery method.

Multifocal juvenile xanthogranuloma presenting with a hand mass and bilateral vitreous hemorrhage in a neonate.

Purpose: To describe a rare case of multifocal juvenile xanthogranuloma (JXG) in a neonate presenting with a large hand mass, bilateral vitreous hemorrhage, and posterior segment involvement.

Methods: Biopsy of hand lesion led to the diagnosis of JXG. Further systemic workup and ocular examination revealed bilateral vitreous hemorrhage and a small, creamy yellowish subretinal lesion above the fovea in the macula of the left eye.

Visual loss due to central serous chorioretinopathy during corticosteroid treatment for giant cell arteritis.

Giant cell arteritis (GCA) can be a devastating disease resulting in blindness if not promptly diagnosed and treated. The only proven treatment for GCA is systemic corticosteroids; however, there are many side-effects associated with this therapy including ocular side-effects such as ocular hypertension, cataract formation and central serous chorioretinopathy. To raise physician awareness, a patient with biopsy-proven GCA is reported who lost vision during corticosteroid therapy because of central serous chorioretinopathy.

Ocular photodynamic therapy in choroidal neovascularization complicating idiopathic central serous chorioretinopathy.

Two consecutive patients with idiopathic central serous chorioretinopathy and decreased vision subsequent to subfoveal choroidal neovascular membranes were treated with photodynamic therapy applied using the protocol of the Treatment of Age-Related Macular Degeneration with Photodynamic Therapy Study Group. Main outcome measures included best-corrected visual acuity, biomicroscopic appearance, and leakage on fluorescein and indocyanine green angiography. Photodynamic therapy offered anatomical, angiographic, and functional improvement.

Bilateral ulnar decubitus as a complication of macular hole surgery.

Bilateral ulnar decubitus is described in a 69-year-old patient maintaining prone positioning after vitrectomy, membrane peeling, and perfluoropropane gas injection for the treatment of a macular hole. Patients should be warned to report any skin breakdown or ulnar paresthesias resulting from positioning and to change position frequently to allow weight bearing on other parts of the body. Patients with certain personality traits may be more likely to maintain correct positioning despite pain or injury to ensure surgical success.

The effect of intraoperative retinal manipulation on the underlying retinal pigment epithelium: an experimental study.

Purpose: Retinal pigment epithelial changes described after vitreoretinal surgery may result from localized compression injury caused by intentional or inadvertent contact with vitreoretinal instruments. The authors evaluated these changes resulting from manipulation of the retina without frank retinal injury.

Methods: One eye each of six pigmented rabbits underwent surgery during which the inner retinal surface was touched at several points with a 20-gauge silicone-tipped subretinal fluid cannula without causing a retinal break or subretinal hemorrhage.

Diagnostic use of a rigid contact lens to show corneal topography abnormalities after laser refractive surgery.

We describe 2 cases in which evaluation of rigid contact lens fluorescein patterns were used to delineate and characterize topography irregularities. Contact lens analysis confirmed and localized topography findings of an elevated central island in 1 patient and a semicircular pattern in the other patient. To determine a therapeutic strategy to correct topography irregularities after laser refractive surgery, it is critical to document a corneal elevation and delineate its location.