Project description:We present a case of post-trabeculectomy encapsulated dysesthetic bleb with scleral fistula, managed successfully with autograft. The child was operated on twice before for trabeculectomy, and intraocular pressure (IOP) recorded was in the normal range for the initial few years. This time child presented with a large encapsulated dysesthetic bleb with borderline IOP. As the IOP was on the lower side, an underlyings cleral fistula was suspected and planned for bleb revision with a donor patch graft. We describe the novel technique of bleb revision along with the repair of the scleral fistula with an autologous free fibrotic Tenon's tissue graft instead of a donor patch graft with a successful outcome.
Project description:The purpose of this study is to report the modification of sewing machine technique for iris dialysis repair (MSMT) and its usefulness in managing other conditions such as intraocular lens (IOL) subluxation, iris coloboma, Cionni ring for zonular dialysis, and for scleral-fixated IOL. MSMT was based on sewing machine principle using a prethreaded 26G/30G needle with prolene suture for minimally invasive iris dialysis repair in a closed chamber manner. So far, eight patients (trauma - 3, surgical complication - 5) underwent this procedure. This technique is further modified to extend its use for IOL relocation - 2, iris coloboma repair - 3, and Cionni ring fixation for zonular dialysis - 2, SFIOL - 5 patients. All 20 patients had good visual recovery and cosmetic outcome with minimal morbidity. To conclude, MSMT offers cost -effective, minimally invasive, easy to learn procedure with a potential to tackle several problems related with cataract surgery and iris defects, which even an average cataract surgeon can learn to perform when required. Further comparative studies with conventional techniques with large sample size are required to standardize this procedure.
Project description:RationaleA coronary artery fistula (CAF) is an anomalous communication between a coronary artery and a cardiac chamber or great vessel. It is a rare congenital anomaly that is often small and asymptomatic, occurring in only 0.002% of the general population. Most CAFs originate from the right coronary artery and flow into the right cardiac system. Although extremely rare, some cases may originate from the bilateral coronary arteries and flow into the left ventricle.Patient concernsHerein, we report a rare case of a 55-year-old male smoker with no history of heart disease or cardiac surgery, who presented with a 5-year history of recurrent chest congestion, palpitations, and shortness of breath. On physical examination, his heart and lungs revealed normal findings without cardiac murmurs and no systemic or pulmonary edema. Moreover, 24-hour ambulatory electrocardiography showed no signs of ischemia but exhibited a short array of ventricular tachycardia and short atrial tachycardia. Chest computed tomography showed left apical emphysema without cardiomegaly and pulmonary congestion. Furthermore, coronary angiography revealed dual congenital coronary cameral fistula, a complex CAF with a left circumflex artery-left ventricle fistula and a right coronary artery-left ventricle fistula, complicated with a myocardial bridge.Diagnosis and interventionsA diagnosis of left circumflex artery-left ventricle fistula complicated with a right coronary artery-left ventricle fistula and myocardial bridge was made. Since the patient refused surgery, medical management with enteric-coated aspirin, sustained-release metoprolol, and atorvastatin calcium was initiated.Outcomes and lessonCurrently, the patient is now asymptomatic and in good condition since 6 months after undergoing conservative treatment with β-blockers.
Project description:Renal coloboma syndrome (RCS), also called papillorenal syndrome, is an autosomal dominant condition characterized by optic nerve dysplasia and renal hypodysplasia. The eye anomalies consist of a wide and sometimes excavated dysplastic optic disc with the emergence of the retinal vessels from the periphery of the disc, frequently called optic nerve coloboma or morning glory anomaly. Associated findings may include a small corneal diameter, retinal coloboma, scleral staphyloma, optic nerve cyst and pigmentary macular dysplasia. The kidney abnormalities consist of small and abnormally formed kidneys known as renal hypodysplasia. Histologically, kidneys exhibit fewer than the normal number of glomeruli and these glomeruli are enlarged, a finding called oligomeganephronia. Consequences of the ocular malformations include decreased visual acuity and retinal detachment. Consequences of the renal hypodysplasia include hypertension, proteinuria and renal insufficiency that frequently progresses to end-stage kidney disease. High frequency hearing loss has been reported. Autosomal dominant mutations in PAX2 can be identified in nearly half of all patients with clinical findings suggestive of RCS, however, the majority of published cases have mutations in PAX2, thus biasing the known information about the phenotype.
Project description:Ocular coloboma is a developmental defect of the eye and is due to abnormal or incomplete closure of the optic fissure. This disorder displays genetic and clinical heterogeneity. Using a positional cloning approach, we identified a mutation in the ATP-binding cassette (ABC) transporter ABCB6 in a Chinese family affected by autosomal-dominant coloboma. The Leu811Val mutation was identified in seven affected members of the family and was absent in six unaffected members from three generations. A LOD score of 3.2 at ? = 0 was calculated for the mutation identified in this family. Sequence analysis was performed on the ABCB6 exons from 116 sporadic cases of microphthalmia with coloboma (MAC), isolated coloboma, and aniridia, and an additional mutation (A57T) was identified in three patients with MAC. These two mutations were not present in the ethnically matched control populations. Immunostaining of transiently transfected, Myc-tagged ABCB6 in retinal pigment epithelial (RPE) cells showed that it localized to the endoplasmic reticulum and Golgi apparatus of RPE cells. RT-PCR of ABCB6 mRNA in human cell lines and tissue indicated that ABCB6 is expressed in the retinae and RPE cells. Using zebrafish, we show that abcb6 is expressed in the eye and CNS. Morpholino knockdown of abcb6 in zebrafish produces a phenotype characteristic of coloboma and replicates the clinical phenotype observed in our index cases. The knockdown phenotype can be corrected with coinjection of the wild-type, but not mutant, ABCB6 mRNA, suggesting that the phenotypes observed in zebrafish are due to insufficient abcb6 function. Our results demonstrate that ABCB6 mutations cause ocular coloboma.
Project description:PurposeThe purpose of this study was to evaluate the biomechanical and hydration differences in scleral tissue after two modalities of collagen cross-linking.MethodsScleral tissue from 40 adult white rabbit eyes was crosslinked by application of 0.1% Rose Bengal solution followed by 80 J/cm2 green light irradiation (RGX) or by application of 0.1% riboflavin solution followed by 5.4 J/cm2 ultraviolet A irradiation (UVX). Posterior scleral strips were excised from treated and untreated sclera for tensile and hydration-tensile tests. For tensile tests, the strips were subjected to uniaxial extension after excision. For hydration-tensile tests, the strips were dehydrated, rehydrated, and then tested. Young's modulus at 8% strain and swelling rate were estimated. ANOVAs were used to test treated-induced differences in scleral biomechanical and hydration properties.ResultsPhoto-crosslinked sclera tissue was stiffer (Young's modulus at 8% strain: 10.7 ± 4.5 MPa, on average across treatments) than untreated scleral tissue (7.1 ± 4.0 MPa). Scleral stiffness increased 132% after RGX and 90% after UVX compared to untreated sclera. Scleral swelling rate was reduced by 11% after RGX and by 13% after UVX. The stiffness of the treated sclera was also associated with the tissue hydration level. The lower the swelling, the higher the Young's modulus of RGX (-3.8% swelling/MPa) and UVX (-3.5% swelling/MPa) treated sclera.ConclusionsCross-linking with RGX and UVX impacted the stiffness and hydration of rabbit posterior sclera. The Rose Bengal with green light irradiation may be an alternative method to determine the efficacy and suitability of inducing scleral tissue stiffening in the treatment of myopia.