Genetic testing for inherited retinal degenerations: Triumphs and tribulations

Inherited retinal degenerations (IRDs) are a genotypically and phenotypically diverse group of conditions. Great strides have been made toward identifying the genetic basis for these conditions over the last 30 years—more than 270 different genes involved in syndromic and nonsyndromic forms of retinal dystrophies have now been identified. The identification of these genes and the improvement of clinical laboratory techniques have led to the identification of the genetic basis of disease in 56–76% of patients with IRDs through next generation sequencing and copy number variant analysis. Genetic testing is an essential part of clinical care for patients affected with IRDs and is required to confirm the diagnosis, understand the inheritance of the condition, and determine eligibility for gene‐specific treatments or clinical trials. Despite the success achieved in determining the genetic cause of these conditions, several challenges remain, which must be considered when providing genetic testing and genetic counseling to patients. For this reason, an integrated team of ophthalmic and genetic clinicians who are familiar with these challenges is necessary to provide optimal comprehensive care to these patients.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/162692/2/ajmgc31835.pdfhttp://deepblue.lib.umich.edu/bitstream/2027.42/162692/1/ajmgc31835_am.pd

The Ophthalmic Experience: Unanticipated Primary Findings in the Era of Next Generation Sequencing

Next generation sequencing (NGS) technology, with the ability to sequence many genomic regions at once, can provide clinicians with increased information, in the form of more mutations detected. Discussions on broad testing technology have largely been focused on incidental findings, or unanticipated results related to diseases beyond the primary indication for testing. By examining multiple genes that could be responsible for the patient’s presentation, however, there is also the possibility of unexpected results that are related to the reason genetic testing was ordered. We present a case study where multiple potentially causative mutations were detected using NGS technology. This case raises questions of scientific uncertainty, and has important implications for medical management and secondary studies. Clinicians and genetic counselors should be aware of the potential for increased information to affect one’s understanding of genetic risk, and the pre‐ and post‐testing counseling process.Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/147171/1/jgc40588.pd

By E-Care Pharmacy Web Application, the Medicines Needed for Daily Human Life Can be Easily Delivered to Them

This project offers knowledge on creating and putting in place a pharmaceutical management system. And here, the major objective is to increase the efficacy, efficiency, and accuracy of the drug. In today's world, management is one of the most crucial organizational components. Additionally, complexity is added when management does a certain activity in any way. In other words, the availability of computers and advancements in information technology have made it possible for us to swiftly and effectively gather and communicate vast volumes of data on patient treatment. The pharmacy management system should be able to get prescriptions and non-prescription medications with the assistance of certified, trained pharmacists in order to provide patients with the medications they require. Today, many of these types of pharmacy management systems are used to better manage pharmacy-related activities

Case Report: melioidosis - poor compliance resulting in a relapse

No abstract availabl

Functional Analysis of Retinitis Pigmentosa 2 (RP2) Protein Reveals Variable Pathogenic Potential of Disease-Associated Missense Variants

Genetic mutations are frequently associated with diverse phenotypic consequences, which limits the interpretation of the consequence of a variation in patients. Mutations in the retinitis pigmentosa 2 (RP2) gene are associated with X-linked RP, which is a phenotypically heterogenic form of retinal degeneration. The purpose of this study was to assess the functional consequence of disease-associated mutations in the RP2 gene using an in vivo assay. Morpholino-mediated depletion of rp2 in zebrafish resulted in perturbations in photoreceptor development and microphthalmia (small eye). Ultrastructural and immunofluorescence analyses revealed defective photoreceptor outer segment development and lack of expression of photoreceptor-specific proteins. The retinopathy phenotype could be rescued by expressing the wild-type human RP2 protein. Notably, the tested RP2 mutants exhibited variable degrees of rescue of rod versus cone photoreceptor development as well as microphthalmia. Our results suggest that RP2 plays a key role in photoreceptor development and maintenance in zebrafish and that the clinical heterogeneity associated with RP2 mutations may, in part, result from its potentially distinct functional relevance in rod versus cone photoreceptors

Worldwide Argus II implantation: recommendations to optimize patient outcomes

Abstract Background A position paper based on the collective experiences of Argus II Retinal Prosthesis System investigators to review strategies to optimize outcomes in patients with retinitis pigmentosa undergoing retinal prosthesis implantation. Methods Retinal surgeons, device programmers, and rehabilitation specialists from Europe, Canada, Middle East, and the United States were convened to the first international Argus II Investigator Meeting held in Ann Arbor, MI in March 2015. The recommendations from the collective experiences were collected. Factors associated with successful outcomes were determined. Results Factors leading to successful outcomes begin with appropriate patient selection, expectation counseling, and preoperative retinal assessment. Challenges to surgical implantation include presence of staphyloma and inadequate Tenon’s capsule or conjunctiva. Modified surgical technique may reduce risks of complications such as hypotony and conjunctival erosion. Rehabilitation efforts and correlation with validated outcome measures following implantation are critical. Conclusions Bringing together Argus II investigators allowed the identification of strategies to optimize patient outcomes. Establishing an on-line collaborative network will foster coordinated research efforts to advance outcome assessment and rehabilitation strategies.http://deepblue.lib.umich.edu/bitstream/2027.42/134581/1/12886_2016_Article_225.pd

Fungal Endophthalmitis Associated With DSAEK and Thermal Sclerostomy

An 85-year-old man with remote thermal sclerostomy and Descemet\u27s stripping automated endothelial keratoplasty (DSAEK) in the right eye presented urgently for pain and blurred vision in that eye. Examination revealed bleb purulence and vitreous cellular aggregates concerning for endophthalmitis. Microscopy of a vitreous sample revealed yeast and pseudohyphae. He developed corneal infiltrates consistent with fungal infection. Therapy included topical, intravitreal, and systemic antifungals voriconazole and amphotericin. Fungal pathogens have very rarely been reported to cause bleb-associated endophthalmitis and should be considered in addition to bacterial pathogens. Vitreous aspiration should be performed in all cases of bleb-related endophthalmitis and include fungal studies. [Ophthalmic Surg Lasers Imaging Retina. 2016;47:691-693.]

Case Report: melioidosis - poor compliance resulting in a relapse

No abstract availabl

Case report: melioidosis presenting as urinary tract infection

No abstract availabl