Three techniques for guidewire-assisted sulcus glaucoma tube shunt placement.

Purpose: Tube shunts can be inserted into the anterior chamber, ciliary sulcus, or pars plana. Sulcus tube placement can be challenging. This report demonstrates three techniques for guidewire-assisted sulcus tube insertion. Observations: The first technique uses a needle inserted through a paracentesis 180-degrees across from the tube entry site and creates an ab-interno sclerotomy through which the guidewire is inserted by docking it into the needle bevel. The second technique involves inserting the guidewire into the eye via a paracentesis and using microforceps to retrieve it through a sclerotomy. The third technique uses forceps to insert the guidewire into a paracentesis 180° across from the planned tube entry site and dock it into a needle bevel that has been inserted into the sulcus. Each of these techniques provides a reliable and reproducible way to insert a tube into the sulcus. Conclusions and importance: Guidewire-assisted tube entry offers a promising solution in cases of difficult sulcus tube placement without substantial additional cost.

De novo variants in PLCG1 are associated with hearing impairment, ocular pathology, and cardiac defects.

Phospholipase C isozymes (PLCs) hydrolyze phosphatidylinositol 4,5-bisphosphate into inositol 1,4,5-trisphosphate and diacylglycerol, important signaling molecules involved in many cellular processes. PLCG1 encodes the PLCγ1 isozyme that is broadly expressed. Hyperactive somatic mutations of PLCG1 are observed in multiple cancers, but only one germline variant has been reported. Here we describe three unrelated individuals with de novo heterozygous missense variants in PLCG1 (p.Asp1019Gly, p.His380Arg, and p.Asp1165Gly) who exhibit variable phenotypes including hearing loss, ocular pathology and cardiac septal defects. To model these variants in vivo, we generated the analogous variants in the Drosophila ortholog, small wing (sl). We created a null allele slT2A and assessed the expression pattern. sl is broadly expressed, including in wing discs, eye discs, and a subset of neurons and glia. Loss of sl causes wing size reductions, ectopic wing veins and supernumerary photoreceptors. We document that mutant flies exhibit a reduced lifespan and age-dependent locomotor defects. Expressing wild-type sl in slT2A mutant rescues the loss-of-function phenotypes whereas expressing the variants causes lethality. Ubiquitous overexpression of the variants also reduces viability, suggesting that the variants are toxic. Ectopic expression of an established hyperactive PLCG1 variant (p.Asp1165His) in the wing pouch causes severe wing phenotypes, resembling those observed with overexpression of the p.Asp1019Gly or p.Asp1165Gly variants, further arguing that these two are gain-of-function variants. However, the wing phenotypes associated with p.His380Arg overexpression are mild. Our data suggest that the PLCG1 de novo heterozygous missense variants are pathogenic and contribute to the features observed in the probands.

Outcomes of the Second Aqueous Shunt Implant Versus Transscleral Cyclophotocoagulation Treatment Study: A Randomized Comparative Trial.

PRCIS: Short-term overall success rates were high with either SGDD or CPC. However, SGDD was associated with more clinic visits and an increased risk of additional glaucoma surgery. Both treatments were reasonable options for eyes with inadequately controlled IOP after a single GDD. PURPOSE: The purpose of this study is to compare the implantation of a second glaucoma drainage device (SGDD) and transscleral cyclophotocoagulation (CPC) in eyes with inadequately controlled intraocular pressure (IOP), despite the presence of a preexisting glaucoma drainage device. METHODS: Patients with inadequately controlled IOP, despite the medical therapy and a preexisting glaucoma drainage device, were enrolled at 14 clinical centers and randomly assigned to treatment with a SGDD or CPC. MAIN OUTCOME MEASURES: Surgical failure was defined as: (1) IOP ≤5 mm Hg or >18 mm Hg or <20% reduction below baseline on maximum tolerated topical ocular hypotensive therapy, (2) reoperation for glaucoma, or (3) loss of light perception. The primary outcome measure was overall success with or without adjunctive medical therapy. RESULTS: Forty-two eyes of 42 participants were randomized to SGDD (n=22) or CPC (n=20). Mean duration of follow-up was 18.6 (±12.1; range: 1.1-38.6) months. The cumulative success rate was 79% for SGDD and 88% for CPC at 1 year ( P =0.63). Although the study was underpowered, no significant differences in IOP, postoperative number of IOP-lowering medications, or adverse events were observed. The number of additional glaucoma surgeries ( P =0.003), office visits during the first 3 months ( P <0.001), and office visits per month after month 3 ( P <0.001) were greater in the SGDD group. CONCLUSIONS: Short-term overall success rates were high with either SGDD or CPC. However, SGDD was associated with more clinic visits and an increased risk of additional glaucoma surgery.

Optic Nerve Aplasia.

OBJECTIVE: Optic nerve aplasia (ONA) is a rare ocular anomaly. We report ophthalmologic, systemic, and genetic findings in ONA. METHODS: Patients were identified through an International Pediatric Ophthalmology listserv and from the practice of the senior author. Participating Listserv physicians completed a data collection sheet. Children of all ages were included. Neuroimaging findings were also recorded. RESULTS: Nine cases of ONA are reported. Patients' ages ranged from 10 days to 2 years (median 9 months). Seven cases were bilateral. All patients had absence of the optic nerve and retinal vessels in the affected eye or eyes. Ophthalmologic findings included glaucoma, microcornea, persistent pupillary membrane, iris coloboma, aniridia, retinal dysplasia, retinal atrophy, chorioretinal coloboma, and persistent fetal vasculature. Systemic findings included facial dysmorphism, cardiac, genitourinary, skeletal, and developmental defects. A BCOR mutation was found in one patient. One patient had rudimentary optic nerves and chiasm on imaging. CONCLUSION: ONA is a unilateral or bilateral condition that may be associated with anomalies of the anterior or posterior segment with or without systemic findings. Rudimentary optic nerve on neuroimaging in one case suggests that ONA is on the continuum of optic nerve hypoplasia.

Combined phacovitrectomy with capsular tension ring and gas tamponade for chronic cyclodialysis cleft unresponsive to conventional closure.

Traumatic cyclodialysis clefts, a rare diagnosis after blunt injury to the eye, are typically amenable to closure with either medical therapy or direct surgical cyclopexy. However, when cyclodialysis clefts cannot be closed through these methods, unorthodox techniques may be required. We describe a method to close a traumatic cyclodialysis cleft involving simultaneous vitrectomy, capsular tension ring placement, and insertion of an intraocular lens.

Consensus Statement for the Management and Treatment of Sturge-Weber Syndrome: Neurology, Neuroimaging, and Ophthalmology Recommendations.

BACKGROUND: Sturge-Weber syndrome (SWS) is a sporadic, neurocutaneous syndrome involving the skin, brain, and eyes. Because of the variability of the clinical manifestations and the lack of prospective studies, consensus recommendations for management and treatment of SWS have not been published. OBJECTIVE: This article consolidates the current literature with expert opinion to make recommendations to guide the neuroimaging evaluation and the management of the neurological and ophthalmologic features of SWS. METHODS: Thirteen national peer-recognized experts in neurology, radiology, and ophthalmology with experience treating patients with SWS were assembled. Key topics and questions were formulated for each group and included (1) risk stratification, (2) indications for referral, and (3) optimum treatment strategies. An extensive PubMed search was performed of English language articles published in 2008 to 2018, as well as recent studies identified by the expert panel. The panel made clinical practice recommendations. CONCLUSIONS: Children with a high-risk facial port-wine birthmark (PWB) should be referred to a pediatric neurologist and a pediatric ophthalmologist for baseline evaluation and periodic follow-up. In newborns and infants with a high-risk PWB and no history of seizures or neurological symptoms, routine screening for brain involvement is not recommended, but brain imaging can be performed in select cases. Routine follow-up neuroimaging is not recommended in children with SWS and stable neurocognitive symptoms. The treatment of ophthalmologic complications, such as glaucoma, differs based on the age and clinical presentation of the patient. These recommendations will help facilitate coordinated care for patients with SWS and may improve patient outcomes.

The African Descent and Glaucoma Evaluation Study (ADAGES) III: Contribution of Genotype to Glaucoma Phenotype in African Americans: Study Design and Baseline Data.

PURPOSE: To describe the study protocol and baseline characteristics of the African Descent and Glaucoma Evaluation Study (ADAGES) III. DESIGN: Cross-sectional, case-control study. PARTICIPANTS: Three thousand two hundred sixty-six glaucoma patients and control participants without glaucoma of African or European descent were recruited from 5 study centers in different regions of the United States. METHODS: Individuals of African descent (AD) and European descent (ED) with primary open-angle glaucoma (POAG) and control participants completed a detailed demographic and medical history interview. Standardized height, weight, and blood pressure measurements were obtained. Saliva and blood samples to provide serum, plasma, DNA, and RNA were collected for standardized processing. Visual fields, stereoscopic disc photographs, and details of the ophthalmic examination were obtained and transferred to the University of California, San Diego, Data Coordinating Center for standardized processing and quality review. MAIN OUTCOME MEASURES: Participant gender, age, race, body mass index, blood pressure, history of smoking and alcohol use in POAG patients and control participants were described. Ophthalmic measures included intraocular pressure, visual field mean deviation, central corneal thickness, glaucoma medication use, or past glaucoma surgery. Ocular conditions, including diabetic retinopathy, age-related macular degeneration, and past cataract surgery, were recorded. RESULTS: The 3266 ADAGES III study participants in this report include 2146 AD POAG patients, 695 ED POAG patients, 198 AD control participants, and 227 ED control participants. The AD POAG patients and control participants were significantly younger (both, 67.4 years) than ED POAG patients and control participants (73.4 and 70.2 years, respectively). After adjusting for age, AD POAG patients had different phenotypic characteristics compared with ED POAG patients, including higher intraocular pressure, worse visual acuity and visual field mean deviation, and thinner corneas (all P < 0.001). Family history of glaucoma did not differ between AD and ED POAG patients. CONCLUSIONS: With its large sample size, extensive specimen collection, and deep phenotyping of AD and ED glaucoma patients and control participants from different regions in the United States, the ADAGES III genomics study will address gaps in our knowledge of the genetics of POAG in this high-risk population.

Characterizing Anterior Segment OCT Angle Landmarks of the Trabecular Meshwork Complex.

PURPOSE: To identify the presence or absence of 3 identifiable landmarks: trabecular meshwork (TM), Schlemm's canal (SC), and a novel landmark termed the band of extracanalicular limbal lamina (BELL), which is a landmark adjacent to SC visible on anterior segment (AS) OCT. These landmarks also were analyzed pathologically to identify all 3 landmarks. DESIGN: Retrospective review. PARTICIPANTS: One eye per participant from prior institutional review board-approved studies in which AS OCT imaging was performed. METHODS: Horizontal images from 2-dimensional angle analysis scans using a CASIA SS-1000 (Tomey, Nagoya, Japan) AS OCT were evaluated by masked readers. Logistic regression was used to analyze the potential factors of age, gender, race, intraocular pressure, gonioscopy grade, angle location, and history or presence of surgery on the visibility of these structures. Pathologic correlation on 5 previously enucleated eyes also was performed. MAIN OUTCOME MEASURES: Presence or absence of angle landmarks-TM, SC, and BELL-using Anterior Chamber Analysis and Interpretation software (ACAI, Houston, TX). RESULTS: Three hundred three angles of 153 horizontal images were included in this study. The mean age was 51.5±16.0 years, with 98 women (64%) and 100 white persons (66%). The outer border of the BELL was observed in 288 angles (95%), TM was found in 220 angles (73%), and SC was seen in 120 angles (40%). The outer border of the BELL was more visible in white persons (P = 0.02) than Asians and in eyes with a Spaeth gonioscopy grade of E than those with a grade of A (P = 0.02). Both TM (P = 0.001) and SC (P = 0.001) were more visible in temporal angles (81% for TM, 49% for SC) than in nasal angles (64% for TM, 30% for SC). Additionally, SC was more visible in open angles (43%) than in narrow angles (27%; P = 0.02). These 3 structures were verified in a pathologic study. CONCLUSIONS: We identified a novel AS OCT landmark adjacent to SC. This structure also was identified on pathologic samples from enucleated eyes. Further study is needed to determine the pathophysiologic relevance of these findings.

Comparison of Efficacy and Complications of Cyclophotocoagulation and Second Glaucoma Drainage Device After Initial Glaucoma Drainage Device Failure.

PURPOSE: Compare intraocular pressure (IOP) control and complication rates of a second glaucoma drainage device (GDD) to diode transscleral cyclophotocoagulation (TSCPC) following failure of an initial GDD. PATIENTS AND METHODS: Eyes with 1 GDD that required a second GDD or TSCPC for glaucoma control were included. Exclusion criteria were a cyclodestructive procedure before initial GDD, no light perception vision, or follow-up <1 year. Failure was defined as ≥1 of (1) reoperation for lowering IOP; (2) explantation of second GDD; (3) persistent hypotony; (4) use of oral carbonic anhydrase inhibitor for lowering IOP in the study eye; or (5) loss of light perception. Reoperation for lowering IOP included additional GDD implantation or additional cyclodestruction, except if additional cyclodestruction was within 6 months of the initial session. RESULTS: A total of 75 eyes (35 in second GDD; 40 in TSCPC) were included (mean follow-up, 25.5 mo). Both procedures lowered IOP [-11.4 mm Hg (±13.6) for second GDD and -7.8 mm Hg (±11.8) for TSCPC groups] and decreased the number of IOP-lowering medications at the last visit. The second GDD group had significantly greater mean survival time [45.0 mo (±4.2)] than the TSCPC group [26.5 mo (±2.8)] but significantly more postoperative complications (60% of eyes) and non-IOP-related procedures (40% of eyes) than the TSCPC group (20% for postoperative complications and 18% for non-IOP-related procedures). CONCLUSIONS: Although both second procedures are efficacious in lowering IOP and number of IOP-lowering medications, TSCPC failed earlier, whereas a second GDD had significantly more complications.

Long-term Outcome of Argon Laser Peripheral Iridoplasty in the Management of Plateau Iris Syndrome Eyes.

PURPOSE: To report long-term (>5 y) outcomes of plateau iris syndrome patients treated with argon laser peripheral iridoplasty (ALPI). PATIENTS AND METHODS: A retrospective chart review was performed on all patients with plateau iris syndrome treated with ALPI from 1996 to 2007. The study included 22 eyes from 22 patients with plateau iris after peripheral iridotomy that were followed for at least 1 year after ALPI. The primary outcome was incidence of needing any intraocular pressure (IOP)-lowering medications or surgery (either a filtering procedure or phacoemulsification). Demographic and baseline clinical data were summarized by mean (±SD) or frequency (percentage). Snellen best-corrected visual acuity was converted to logMAR. The paired t test was used to compare IOP changes, number of IOP-lowering medications, and best-corrected visual acuity from baseline to annual follow-up. RESULTS: Mean follow-up was 76 months. Only 2 (9%) eyes maintained an IOP<21 mm Hg without requiring medication or surgery. Seventeen (77%) eyes underwent surgery at an average of 49.1±7.9 months after ALPI. Eight (36%) eyes underwent filtering surgery, and 9 (41%) eyes underwent phacoemulsification. Three months after cataract extraction, no eyes required IOP-lowering medication. CONCLUSIONS: The beneficial effects of ALPI last for <4 years, with the majority of patients (77%) requiring surgery. Phacoemulsification alone was a successful treatment for plateau iris in our patient population.

Treatment of Recalcitrant Cyclitic Neovascular Pupillary Membranes.

PURPOSE: To describe a new approach for the treatment of cyclitic vascularized pupillary membranes. PATIENTS AND METHODS: A retrospective interventional case series describing 3 patients undergoing a novel interventional treatment at a single institutional center. RESULTS: This technique allows successful completion of laser membranectomy to create a pupillary aperture. This aperture resulted in improved vision and an enhanced ability to examine for and treat ischemic retinal disease. CONCLUSIONS: This technique describes a new use for bevacizumab that enables the surgeon to treat recalcitrant and recurrent cyclitic vascularized pupillary membranes.

Short-Term Outcomes of KeraSys Patch Graft for Glaucoma Drainage Devices: A Case Series.

Purpose. Tube-related exposure is a known complication of glaucoma drainage device (GDD) surgery. Our objective is to report the early (approximately 1 year) tube exposure rate of implants covered with a keraSys (IOP Inc., Costa Mesa, CA, USA) tissue reinforcement graft. Patients and Methods. A retrospective, noncomparative, consecutive case series of 42 eyes with GDD implantation with keraSys patch grafts was performed. Main outcome measurements included patch-related complications: patch exposure, tube exposure, wound dehiscence, and patch migration. Results. Forty-two eyes were followed for an average of 15.24 ± 10.44 months (range 1.0-32.3 months). Four (10%) eyes experienced patch-related complications: two with exposure 8 months postoperatively, one with exposure 13 months postoperatively, and one with exposure 4 weeks postoperatively. Conclusion. The effectiveness of the keraSys patch graft is limited by the higher than expected early exposure rate found in this case series. These results should be confirmed in other studies.

Fluorescein angiography findings in phacomatosis pigmentovascularis.

The authors report the fluorescein angiography findings in a 3-month-old patient with phacomatosis cesioflammea, which revealed venous-venous anastomoses in addition to previously undescribed features of peripheral retinal vascular nonperfusion. The authors encourage physicians to consider phacomatosis pigmentovascularis in the differential diagnosis of patients presenting with facial port-wine stain and to screen these patients for peripheral retinal avascularity in addition to glaucoma and primary uveal melanoma.

Herpes simplex vegetans presenting as an eyelid mass.

A 16-year-old girl with congenital T-cell immunodeficiency presented with a 2-month history of an enlarging lower eyelid mass. After complete excision of the mass, the lesion was noted to recur. Histologic and immunohistochemical analysis of the excised mass revealed infection with herpes simplex virus types 1 and 2 with exuberant inflammatory reaction and granulation tissue consistent with the diagnosis of herpes simplex vegetans. Treatment with valacyclovir resulted in complete resolution of the remaining lesions. Herpes simplex vegetans should be included in the clinical and histopathologic differential for rapidly growing cutaneous masses in patients with immunodeficiency.