Genetic profile and mutation spectrum of Leber congenital amaurosis in a larger Indian cohort using high throughput targeted re-sequencing.

To provide a comprehensive data on the prevalence of mutations in Leber congenital amaurosis (LCA) candidate genes from a larger Indian cohort. Ninety-two unrelated subjects were recruited after complete ophthalmic examination and informed consent. Targeted re-sequencing of 20 candidate genes was performed using Agilent HaloPlex target enrichment assay and sequenced on Illumina MiSeq platform. The data were analyzed using standard bioinformatics pipeline, variants annotated, validated and segregated. Genotype-phenotype correlation was performed for the mutation-positive cases. Targeted next generation sequencing (NGS) for the 20 candidate genes generated data with an average sequence coverage and depth of 99.03% and 134X, respectively. Mutations were identified in 61% (56/92) of the cases, which were validated, segregated in the families and absent in 200 control chromosomes. These mutations were observed in 14/20 candidate genes and 39% (21/53) were novel. Distinct phenotypes were observed with respect to genotypes. To our knowledge, this study presents the first comprehensive mutation spectrum of LCA in a large Indian cohort. The mutation-negative cases indicate scope for finding novel candidate gene(s) although mutations in deep intronic and regulatory regions cannot be ruled out.

Surgical management of malignant glaucoma: a retrospective analysis of fifty eight eyes.

PurposeTo assess outcomes of surgical management of malignant glaucoma in terms of re-formation of anterior chamberMethodsThis was a retrospective analysis of consecutive patients who underwent surgical treatment for malignant glaucoma between January 1995 and December 2013 at a tertiary care ophthalmic institute, with a minimum follow up of 2 months.ResultsFifty eight eyes of 58 patients were included. Fifty two (89.7%) patients had primary angle closure glaucoma. The majority had undergone glaucoma filtration surgery earlier (n=53, 91.4%). Lensectomy and anterior vitrectomy was performed in 15 (25.9%) eyes (Group 1). Vitrectomy and anterior chamber re-formation was performed in 27 (46.6%) eyes (Group 2). Vitrectomy-phacoemulsification-vitrectomy was performed in 16 (27.6%) eyes (Group 3). Communication between the two segments of eye through anterior hyaloid, lens capsule complex and/or iris was achieved in all groups. The median follow-up (Inter-quartile range) was 30 (71.5) months. Anterior chamber re-formation was achieved in 56 (96.5%) eyes at final visit. The improvement in mean±SD LogMAR visual acuity (1.1±1 to 0.7±0.8) and reduction in number ±SD of anti-glaucoma medications (2.1±1.1 to 1±1.6) between onset and final visit were significant (P=0.02 and <0.01, respectively). The intraocular pressure (mm Hg) at onset and at final visit was 30.7±17.4 and 14±6.2, 32.8±12.6 and 15.3±7.4, and 27.2±14 and 10.9±3 in groups 1-3, respectively (all P<0.01).ConclusionOur anatomical success rate was high. The key element in achieving this outcome was the establishment of a patent communication between the vitreous cavity and the anterior chamber.

Delayed presentations of congenital diaphragmatic hernia.

The delayed presentation of a congenital diaphragmatic hernia may include symptoms of acute respiratory distress or gastrointestinal obstruction. We review the presentation and management of the different types of diaphragmatic hernias. In addition, we present a case of twins with a left-sided congenital diaphragmatic hernia through the foramen of Morgagni and an associated malrotation of the gastrointestinal tract.

End-tidal carbon dioxide monitoring in the prehospital setting.

End-tidal carbon dioxide (ETCO2) monitoring is an exciting technology and has the potential to become a very useful tool in the prehospital setting. It can be useful in verifying endotracheal tube position and during cardiopulmonary resuscitation in the field. Recent reports of misplaced endotracheal tubes in the prehospital setting make it important to ensure that paramedics learn correct techniques of endotracheal intubation, and that they verify tube placement with an ETCO2 monitor. The new American Heart Association guidelines require secondary confirmation of proper tube placement in all patients by exhaled CO2 immediately after intubation and during transport. This article covers the terminology, the basic physiology, the technology (both colorimetric detectors and infrared capnometers), and the clinical applications of ETCO2 monitoring with special reference to the pediatric patient.

NPB-75: A portable quantitative microstream capnometer.

A portable quantitative microstream capnometer (NPB-75) was tested in intubated children. The end-tidal CO(2) values measured by this device showed good agreement with concomitantly measured values of a stationary mainstream capnometer (N-6000). This lightweight device, with a 4-hour battery life, graphic capnogram display, and audiovisual alarms is well suited for the prehospital setting.

End-tidal carbon dioxide monitoring in pediatrics - clinical applications.

End-tidal CO2 monitoring is an exciting non-invasive technology that is more commonly used in the emergency department, intensive care unit and in the prehospital setting. Its main use has been in verifying endotracheal tube position, during mechanical ventilation and cardiopulmonary resuscitation, but it is being studied and used for other purposes as well. The new American Heart Association guidelines require secondary confirmation of proper tube placement in all patients by exhaled CO2 immediately after intubation and during transport. This article covers the clinical applications of end-tidal CO2 monitoring with special reference to the paediatric patient.

Ultrasound biomicroscopy in the diagnosis and management of pars planitis caused by caterpillar hairs.

PURPOSE: To report the use of ultrasound biomicroscopy in the detection of caterpillar hairs in the pars plana in a patient with unilateral pars planitis. METHOD: Ultrasound biomicroscopic imaging of the anterior segment of the eye. RESULTS: Ultrasound biomicroscopy located a hair in the posterior chamber at the first visit and five more in the pars plana 1 month later. This finding was confirmed intraoperatively. CONCLUSION: Ultrasound biomicroscopy is useful in the diagnosis and management of unilateral pars planitis of uncertain cause.

Ultrasound biomicroscopy of sclerotomy sites after pars plana vitrectomy for diabetic vitreous hemorrhage.

OBJECTIVE: This study was aimed at assessing changes at the sclerotomy site using the ultrasound biomicroscope (UBM) in eyes that underwent primary pars plana vitrectomy for complications of proliferative diabetic retinopathy. DESIGN: Prospective, observational case series. PARTICIPANTS: Eighty-six eyes of 84 patients with vitreous hemorrhage caused by proliferative diabetic retinopathy. INTERVENTION: Three-port pars plana vitrectomy followed by UBM evaluation of all sclerotomy sites between 6 and 8 weeks after surgery. Correlation with intraoperative findings done in case of reoperations. Forty-one eyes had repeat UBM at 6 months. MAIN OUTCOME MEASURES: The changes at the sclerotomy site were classified into six groups: well healed, gape, plaque, vitreous incarceration, fibrovascular proliferation, and anterior hyaloidal fibrovascular proliferation (AHFVP). The UBM characteristics of each of the groups were defined. The findings at 6 months were compared with those at 6 to 8 weeks. RESULTS: At 6 to 8 weeks after surgery, most sclerotomies were well healed or had either moderate to high reflective plaques bridging the site. Wound gape was seen in 22.1% of active ports, 32.6% of light ports, and 25.6% of infusion ports. Vitreous incarceration was seen most often at the infusion port (18. 6% of eyes). Fibrovascular proliferation was seen in 9.3% of active ports, 12.8% of light ports, and 15.1% of infusion ports. Thirteen eyes had recurrent vitreous hemorrhage 6 to 8 weeks after surgery. Cases with rebleeding and no fibrovascular proliferation at the sclerotomy on UBM did well with outpatient fluid-air exchange (two eyes) or observation only (three eyes). Those with fibrovascular proliferation on UBM (eight eyes) required more extensive surgery. CONCLUSIONS: UBM is helpful in detecting complications at the sclerotomy sites after pars plana vitrectomy and is an invaluable tool in the assessment of the patient before reoperation.

Leiomyoma of the ciliary body extending to the anterior chamber: clinicopathologic and ultrasound biomicroscopic correlation.

Leiomyoma of the ciliary body is a rare tumor that often causes a diagnostic dilemma. Sclerouvectomy has been found to be beneficial in the management of iris and ciliary body leiomyoma. We treated a case of leiomyoma of the ciliary body presenting as a fleshy mass in the anterior chamber, removed by partial lamellar sclerouvectomy. Ultrasound biomicroscopic and histopathologic features, including light microscopic, immunohistochemistry, and transmission electron microscopic features, were studied and the literature was reviewed.

Retinal pigment epithelial tears associated with idiopathic central serous chorioretinopathy.

Two patients with idiopathic central serous chorioretinopathy with retinal pigment epithelial tears are described.

Idiopathic priapism.

Idiopathic priapism is rarely seen in children. Two children with idiopathic priapism are presented, followed by a detailed discussion of priapism. Particular attention is paid to idiopathic priapism. Additionally, an algorithm for diagnosing and managing children presenting with priapism is presented.

Ultrasound Biomiscroscopy in the diagnosis and management of cyclodialysis clefts.

PURPOSE: To report the role of Ultrasound Biomicroscopy (UBM) as a tool in the diagnosis and management of cyclodialysis clefts. METHODS: Six eyes of 6 patients with hypotony and suspected or diagnosed cyclodialysis clefts underwent UBM evaluation. Post-treatment UBM was performed in four eyes to assess the effect of the treatment. RESULTS: Cyclodialysis clefts were accurately diagnosed and delineated in 6 eyes by UBM. Complete closure was documented after treatment in 3 eyes, and a residual cleft in one eye. These findings were compared to gonioscopic findings. CONCLUSIONS: UBM is a safe, accurate and noninvasive diagnostic tool in the diagnosis of cyclodialysis clefts and is of particular use when other conventional methods of diagnosis are inconclusive.

Subretinal fibrosis and nonrhegmatogenous retinal detachment associated with multifocal central serous chorioretinopathy.

PURPOSE: To report the rare occurrence of subretinal fibrosis in patients with multifocal central serous chorioretinopathy and evaluate the role of systemic corticosteroids and the effects of laser photocoagulation on multifocal leaks. METHODS: A total of 29 patients (mean age, 37.7 years; 89.7% male) treated for subretinal fibrosis and multifocal central serous chorioretinopathy from 1983-1995 were reviewed retrospectively. Mean follow up was 26 months (range, 6.8-81 months). RESULTS: Retinal detachment involved the macula in 72.4% cases. Fluorescein angiography showed a mean of 6.7 (range, 2-22) central serous chorioretinopathy leaks and a mean of 1.8 (range, 1-5) retinal pigment epithelial detachments. The fundus pictures of 23 patients who were taking systemic corticosteroids showed no improvement. Following laser treatment, however, retinal reattachment was obtained in all eyes, and improvement in visual acuity of > 2 Snellen lines was noted in 68.9% of patients. CONCLUSIONS: The presence of subretinal fibrosis with secondary retinal detachment in otherwise healthy young patients, particularly in men, should alert the physician to look for multifocal central serous retinopathy leaks. Systemic corticosteroids did not prove effective in treating these patients, although laser treatment is recommended for each leak identified on an angiogram.

Use of the esophageal detector device in a newborn-piglet model.

STUDY OBJECTIVE: To determine the accuracy of the esophageal detector device (EDD) in predicting correct endotracheal tube (ETT) placement in a newborn-piglet model. METHODS: We used an EDD, comprising a 5-, 10- or 20-mL syringe attached to 4-mm tubing fitted to a 15-mm ETT adapter, to aspirate gas from cuffed or uncuffed ETTs placed in the trachea or esophagus of each newborn piglet. During aspiration, we noted any resistance encountered while pulling back the plunger of the syringe and recorded the total volume of gas aspirated into the syringe. A positive test, signifying tracheal ETT placement, was defined as the ability to freely aspirate gas without resistance and the aspiration of enough gas to fill the entire volume of the syringe. A negative test, signifying esophageal ETT placement, was defined as resistance encountered during the aspiration of gas into the syringe and rebound of the syringe plunger, leading to aspiration of a volume of gas less than the total volume of the syringe. RESULTS: We conducted 444 trials (222 for uncuffed ETTs, 222 for cuffed ETTs). ETT size ranged from 3.0 to 4.5 mm. For cuffed ETTs, the 5-mL syringe had a sensitivity of 100% and a specificity of 5%, the 10-mL syringe had a sensitivity of 95% and a specificity of 16%, and the 20-mL syringe had a sensitivity of 86% and a specificity of 97%. For uncuffed ETTs, the 5-mL syringe had a sensitivity of 100% and a specificity of 5%, the 10-mL syringe had a sensitivity of 97% and a specificity of 24%, and the 20-mL syringe had a sensitivity of 81% and a specificity of 100%. CONCLUSION: No syringe had 100% sensitivity and specificity in correctly predicting ETT placement. The 20-mL syringe had the highest combination of sensitivity and specificity. Further studies are warranted to determine whether the EDD using a 20-mL syringe would aid in the prediction of correct ETT placement in the pediatric population.

A multivariate analysis of anatomic success of recurrent retinal detachment treated with pneumatic retinopexy.

PURPOSE: The purpose of the study is to determine the success rate of pneumatic retinopexy (PR) after failed scleral buckling and to elucidate the predictors for anatomic failure by multiple logistic regression analysis. METHODS: Thirty-six eyes with recurrent retinal detachment after failed scleral buckling underwent PR. Intraocular tamponade was attained with SF6 (20 eyes), C3F8 (13 eyes), and air (3 eyes). Median follow-up was 14 months. RESULTS: Retinal reattachment was obtained in 69.4%. Multivariate analysis identified two risk factors for failure: location of retinal break either on the posterior slope or posterior to buckle (P = 0.01) and extent of retinal detachment greater than two quadrants (P = 0.02). CONCLUSIONS: Pneumatic retinopexy is an effective alternative to revision surgical operations if the leaking retinal break is located on the buckle.