The Role of Genetic Testing in Children Requiring Surgery for Ectopia Lentis.

Non-traumatic ectopia lentis can be isolated or herald an underlying multisystemic disorder. Technological advances have revolutionized genetic testing for many ophthalmic disorders, and this study aims to provide insights into the clinical utility of genetic analysis in paediatric ectopia lentis. Children that underwent lens extraction for ectopia lentis between 2013 and 2017 were identified, and gene panel testing findings and surgical outcomes were collected. Overall, 10/11 cases received a probable molecular diagnosis. Genetic variants were identified in four genes: FBN1 (associated with Marfan syndrome and cardiovascular complications; n = 6), ADAMTSL4 (associated with non-syndromic ectopia lentis; n = 2), LTBP2 (n = 1) and ASPH (n = 1). Parents appeared unaffected in 6/11 cases; the initial presentation of all six of these children was to an ophthalmologist, and only 2/6 had FBN1 variants. Notably, 4/11 cases required surgery before the age of 4 years, and only one of these children carried an FBN1 variant. In summary, in this retrospective cohort study, panel-based genetic testing pointed to a molecular diagnosis in >90% of paediatric ectopia lentis cases requiring surgery. In a subset of study participants, genetic analysis revealed changes in genes that have not been linked to extraocular manifestations and highlighted that extensive systemic investigations were not required in these individuals. We propose the introduction of genetic testing early in the diagnostic pathway in children with ectopia lentis.

Risk of intraocular pressure elevation after topical steroids in children and adults: A systematic review.

Topical steroids may induce a rise in intraocular pressure. The risk may increase with prolonged use, high frequency of administration, young age, higher ocular penetrance and higher anti-inflammatory potency. We aimed to study this relationship by comparing published rates of intraocular pressure elevation following administration of topical steroids and compared the risk of higher versus lower dosage regimes, high- versus low-potency/penetration steroids and adults versus children. Data sources used were Ovid Embase, Ovid Medline, the Cochrane Central Register of Controlled Trials, Web of Science, Scopus, CINHAL Plus and LILACS. Eligible studies were randomised controlled trials of topical steroids versus any other topical steroid, nonsteroidal anti-inflammatory drugs, placebo or vehicle, or a different mode of administration administered for 7 days or longer that reported intraocular pressure elevation from baseline as >10, 6-15 or >15 mm Hg in adults or children. Risks of bias were reviewed using the GRADE quality approach. Data were extracted into the software package, RevMan, Version 5 (Cochrane Collaboration). In total, 43 studies were included. Meta-analysis was not possible. Topical steroids of lower anti-inflammatory potency, and with reduced intraocular penetration, are associated with reduced incidence of intraocular pressure elevation. A comparison of data in children and adults is limited by the use of different reporting systems. The principal obstacle to meta-analysis is the different reporting systems used to categorise intraocular pressure elevation. We recommend future studies should report intraocular pressure elevation >10 mm Hg from baseline to allow meta-analysis of data.

Laparoscopic double cholecystectomy for duplicated gallbladder: A case report.

INTRODUCTION: Duplication of the gallbladder (GB) is a very rare surgical encounter affecting 1 in 4000-5000 population that often eludes detection on preoperative ultrasonography, and might increase operative difficulty and risk. The H-type anomaly is the most common whereby each GB drains into the common bile duct via a separate cystic duct. PRESENTATION OF CASE: We report a young female patient with symptomatic gallstones who was incidentally found to have abnormal biliary anatomy on a CT colonography and an H-type duplication of the GB on MRCP. A challenging laparoscopic double cholecystectomy was performed uneventfully. DISCUSSION: Gallbladder duplication can be classified as a type-I anomaly (partiality split primordial gallbladder), a type-II anomaly (two separate gallbladders, each with their own cystic duct) or a rare type-III anomaly (triple gallbladders draining by 1-3 separate cystic ducts).Such anatomical variations are associated with increased operative difficulty and risks, including conversion to open cholecystectomy and common bile duct injury. CONCLUSION: A young female patient was pre-operatively diagnosed with a Harlaftis's type-II GB anomaly. Each gallbladder was drained by a distinct cystic duct (H-type anomaly). A laparoscopic cholecystectomy was performed with no complications afterwards. Awareness of this rare anomaly might require intraoperative cholangiography when initially suspected during a cholecystectomy to facilitate anatomical recognition and avoid missing a symptomatic pathologic GB and the need for a repeat cholecystectomy.

Improving diagnosis for congenital cataract by introducing NGS genetic testing.

Childhood cataract (CC) has an incidence of 3.5 per 10,000 by age 15 years. Diagnosis of any underlying cause is important to ensure effective and prompt management of multisystem complications, to facilitate accurate genetic counselling and to streamline multidisciplinary care. Next generation sequencing (NGS) has been shown to be effective in providing an underlying diagnosis in 70% of patients with CC in a research setting. This project aimed to integrate NGS testing in CC within six months of presentation and increase the rate of diagnosis. A retrospective case note review was undertaken to define the baseline efficacy of current care in providing a precise diagnosis. Quality improvement methods were used to integrate and optimize NGS testing in clinical care and measure the improvements made. The percentage of children receiving an NGS result within six months increased from 26% to 71% during the project period. The mean time to NGS testing and receiving a report decreased and there was a reduction in variation over the study period. Several patients and families had a change in management or genetic counselling as a direct result of the diagnosis given by the NGS test. The current recommended investigation of patients with bilateral CC is ineffective in identifying a diagnosis. Quality Improvement methods have facilitated successful integration of NGS testing into clinical care, improving time to diagnosis and leading to development of a new care pathway.

Innovative use of the octopus stabilizer in the excision of a cardiac hydatid cyst.

Hydatid disease is caused through Echinococcus granulosus infection. Hydatid disease remains endemic in developing countries. The majority of cases involve the lungs or liver. We report the case of a patient diagnosed with concurrent mediastinal and cardiac cysts. In this patient, the Octopus IV cardiac stabilizer was used to rotate the heart after the excision of the mediastinal cyst, enabling the excision of a cyst adherent to left ventricle through a single median sternotomy incision. To date, there have been no reports of the application of the Octopus IV cardiac stabilizer in such a way.