A novel deletion mutation, c.1296delT in the BCOR gene, is associated with oculo-facio-cardio-dental syndrome.

The purpose of the present study was to analyze the clinical phenotypes of a girl with oculo-facio-cardio-dental (OFCD) syndrome and to identify the potential pathogenic mutation responsible for her disease. The patient underwent detailed clinical examinations and phenotype data were collected over a follow-up period of 9 years. Mutation analysis of the candidate gene BCOR was performed with polymerase chain reaction and Sanger sequencing.

Findings of Optical Coherence Tomography Angiography in Best Vitelliform Macular Dystrophy.

Purpose: To evaluate the vascular anatomy of eyes with Best vitelliform macular dystrophy (BVMD) using optical coherence tomography angiography (OCTA).

Methods: This retrospective case-control study enrolled 11 consecutive BVMD patients and 13 age-matched healthy participants. Both eyes of each participant were imaged using a macular OCTA scan (3 × 3 mm) by 70-kHz 840-nm spectral-domain OCT.

High-Dose Decanted Triamcinolone for Treatment-Resistant Persistent Macular Edema.

Background And Objective: To report the outcomes of decanted high-dose intravitreal triamcinolone acetonide (HD-IVTA) injection for treatment-resistant persistent macular edema (ME).

Patients And Methods: Seventy-seven eyes of 70 consecutive patients who failed prior treatments for persistent ME received as-needed HD-IVTA injections. Best-corrected visual acuity and central macular thickness (CMT) were assessed at all follow-up visits.

Congenital aniridia with cataract: case series.

Background: This study evaluates patients with congenital aniridia and cataract who underwent phacoemulsification, capsular tension ring placement, and foldable intraocular lens implantation.

Methods: In this prospective case series, 10 patients (17 eyes) underwent cataract surgery via a 3.2 mm clear corneal incision.

CHARACTERISTICS OF EPIRETINAL MEMBRANE REMNANT EDGE BY OPTICAL COHERENCE TOMOGRAPHY AFTER PARS PLANA VITRECTOMY.

Purpose: To evaluate the incidence, characteristics, and the progression of epiretinal membrane (ERM) remnant edge seen by optical coherence tomography after ERM peeling.

Methods: A retrospective chart review was conducted for 86 eyes of 85 consecutive patients who were diagnosed with ERM and underwent pars plana vitrectomy for epiretinal membrane peeling between 2013 and 2014. Data collected and analyzed included age, gender, preoperative and postoperative visual acuity, use of indocyanine green dye to stain internal limiting membrane, tamponade used after vitrectomy, ERM edge boundaries, presence of cystoid macular edema, and central foveal thickness.

The analysis of corneal asphericity (Q value) and its related factors of 1,683 Chinese eyes older than 30 years.

Purpose: To determine corneal Q value and its related factors in Chinese subjects older than 30 years.

Design: Cross sectional study.

Methods: 1,683 participants (1,683 eyes) from the Handan Eye Study were involved, including 955 female and 728 male with average age of 53.

High-frequency aflibercept injections in persistent neovascular age-related macular degeneration.

Purpose: To report the 1-year outcomes of every-4-weeks (Q4W) as-needed aflibercept treatment in resistant neovascular age-related macular degeneration (nAMD) patients who had been treated and failed prior bevacizumab or ranibizumab injections, and who also responded poorly to every-8-weeks (Q8W) aflibercept treatment.

Methods: Forty-three eyes of 39 patients with persistent nAMD despite monthly bevacizumab and/or ranibizumab injections and who were switched to Q8W 2-mg aflibercept injections, but showed persistence of fluid were included. Patients were treated with as-needed Q4W aflibercept injections with monthly monitoring.

Long-Term Results of Pro Re Nata Regimen of Aflibercept Treatment in Persistent Neovascular Age-Related Macular Degeneration.

Purpose: To determine the 24-month results of patients who had pro re nata (PRN) aflibercept treatment owing to recurrent or resistant neovascular macular degeneration.

Design: Retrospective, interventional, consecutive case series.

Methods: Eighty-one eyes of 78 patients with resistant or multiple recurrences of intraretinal or subretinal fluid while receiving monthly bevacizumab or ranibizumab injections and were switched to strict, as-needed aflibercept treatment with every-8-weeks spectral-domain optical coherence tomography (SDOCT)-guided monitoring were included.

Impaled Orbital TASER Probe Injury Requiring Primary Enucleation.

The Conducted Electrical Weapon is a weapon often used by law enforcement agencies as a method of less lethal means to subdue a suspect. Injuries to the eye with these devices are usually due to the projectile force of the metal probes that are released when these devices are engaged. The authors report what may be the first case of an impaled orbital TASER probe that required primary enucleation for globe perforation.

Central retinal artery occlusion in a patient with tetralogy of Fallot.

A 17-year-old Caribbean male presented with painless acute vision loss in the left eye. The patient was found to have a central retinal artery occlusion and an underlying uncorrected tetralogy of Fallot. To our knowledge, this is the first such reported case.

Pachydermoperiostosis: a rare cause of marked blepharoptosis and floppy eyelid syndrome.

A 34-year-old African-American man was referred for eyelid swelling and ocular discomfort. He was found to have floppy hypertrophic eyelids and marked bilateral mechanical ptosis that was present since childhood. Systemic examination was significant for furrows on his forehead and scalp, coarse facial features, and enlarged hands and feet with clubbing of the fingers and toes.

Bilateral marked dacryops following trauma.

A 35 year-old man presented for evaluation of bilateral lacrimal fossa masses. He sustained left and right periocular trauma, eight months and five years prior to presentation, respectively. The patient had marked dacryops, left greater than right, which was confirmed by orbital CT.

Human CRB1-associated retinal degeneration: comparison with the rd8 Crb1-mutant mouse model.

Purpose: To investigate the human disease due to CRB1 mutations and compare results with the Crb1-mutant rd8 mouse.

Methods: Twenty-two patients with CRB1 mutations were studied. Function was assessed with perimetry and electroretinography (ERG) and retinal structure with optical coherence tomography (OCT).

Late capsular bag contraction and intraocular lens subluxation in retinitis pigmentosa: a case report.

Introduction: Retinitis pigmentosa is clinically characterized by loss of predominantly rod photoreceptor function as well as loss of peripheral vision. The classic clinical triad is considered to be the presence of bone spicule pigmentation in the peripheral retina, arteriolar attenuation, and waxy disc pallor. Cataracts, most commonly of the posterior subcapsular type, are often found in all forms of retinitis pigmentosa.