Updated international tuberous sclerosis complex diagnostic criteria and surveillance and management recommendations

Background Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disease affecting multiple body systems with wide variability in presentation. In 2013, Pediatric Neurology published articles outlining updated diagnostic criteria and recommendations for surveillance and management of disease manifestations. Advances in knowledge and approvals of new therapies necessitated a revision of those criteria and recommendations. Methods Chairs and working group cochairs from the 2012 International TSC Consensus Group were invited to meet face-to-face over two days at the 2018 World TSC Conference on July 25 and 26 in Dallas, TX, USA. Before the meeting, working group cochairs worked with group members via e-mail and telephone to (1) review TSC literature since the 2013 publication, (2) confirm or amend prior recommendations, and (3) provide new recommendations as required. Results Only two changes were made to clinical diagnostic criteria reported in 2013: “multiple cortical tubers and/or radial migration lines” replaced the more general term “cortical dysplasias,” and sclerotic bone lesions were reinstated as a minor criterion. Genetic diagnostic criteria were reaffirmed, including highlighting recent findings that some individuals with TSC are genetically mosaic for variants in TSC1 or TSC2. Changes to surveillance and management criteria largely reflected increased emphasis on early screening for electroencephalographic abnormalities, enhanced surveillance and management of TSC-associated neuropsychiatric disorders, and new medication approvals. Conclusions Updated TSC diagnostic criteria and surveillance and management recommendations presented here should provide an improved framework for optimal care of those living with TSC and their families

Cataract Associated with Intraocular Tumors

Cataracts are cloudy or opaque areas in the lens that should otherwise be clear. They result in changes that can impair vision. Cataracts can be secondary to age and mechanical, chemical, or radiation trauma. They are the single largest cause of blindness in the world accounting for over 47 % of blindness worldwide. Intraocular tumors are a rare but important cause of cataract, and the presence of intraocular tumor as an underlying cause should be excluded when the cataract is unilateral, total, sectoral, or posterior subcapsular without obvious cause such as trauma, inflammation, or steroid use. The cataract may be caused by the tumor itself or by previous interventions to diagnose (biopsy) or treat (steroids, excision, radiation, chemotherapy) the intraocular tumor. In the case of a poor view on funduscopy, the clinician must rely on thorough examination techniques and ancillary tests such as ultrasonography and ultrasound biomicroscopy to determine the presence and extent of an intraocular tumor. It is important to remember that the management of patients with intraocular tumors is complex, sometimes controversial, and in some instances the tumor may have been treated with unfamiliar techniques. In this chapter we will discuss the various treatment-related causes of cataracts, specific tumor entities associated with cataracts, and special considerations for the management of cataracts in patients with intraocular tumors

Global Perspectives in Ocular Oncology

Eye cancers vary in presentation depending upon geographic location and access to healthcare. Global Perspectives in Ocular Oncology offers an international platform for leading ocular oncologists and multidisciplinary specialists to highlight worldwide strengths and solutions to the challenges in treating eye cancer. The goal of the book is to provide a universal view on the management of adult and pediatric tumors affecting the eye and ocular adnexa. A range of topics pertinent to the global community have been included. Organized into seven distinct sections, this book covers international collaborations and initiatives, technology and innovations, and novel treatment strategies. In addition, it provides a glimpse into the future of the specialty. The emphasis on sharing perspectives as well as the global and multidisciplinary framework of the book are unique to the market. This work will appeal to a variety of audiences including ocular oncologists and ophthalmic subspecialists, oncologists and other specialists, optometrists, geneticists, allied medical professionals, and trainees entering these disciplines

Autoantibody against transient receptor potential M1 cation channels of retinal ON bipolar cells in paraneoplastic vitelliform retinopathy

<p>Abstract</p> <p>Background</p> <p>Paraneoplastic retinopathy is caused by the cross-reaction of neoplasm-directed autoantibodies against retinal antigens and results in retinal damage. Paraneoplastic vitelliform retinopathy, a presumed paraneoplastic retinopathy with features of atypical melanoma-associated retinopathy, has recently been reported in patients with metastatic melanoma. Ocular ultrastructure and its autoantibody localization of paraneoplastic vitelliform retinopathy are still indefinable. This is the first report of anti-transient receptor potential M1 antibody directly against human retinal bipolar dendritic tips in a melanoma patient with paraneoplastic vitelliform retinopathy.</p> <p>Case presentation</p> <p>We present a pair of postmortem eyes of an 80-year-old male with metastatic cutaneous melanoma, who developed paraneoplastic vitelliform retinopathy. The autopsied eyes were examined with light microscopy, immunohistochemistry, and transmission electron microscopy. Microscopically, the inner nuclear layer and outer plexiform layer were the most affected retinal structures, with local thinning. The lesions extended to the outer nuclear layer, resulting in focal retinal degeneration, edema, and atrophy. No active inflammation or melanoma cells were observed. Immunohistochemistry showed tightly compact bipolar cell nuclei (protein kinase C alpha/calbindin positive) with blur/loss of ON bipolar cell dendritic tips (transient receptor potential M1 positive) in diffusely condensed outer plexiform layer. The metastatic melanoma cells in his lung also showed immunoreactivity against transient receptor potential M1 antibody. Transmission electron microscopy illustrated degenerated inner nuclear layer with disintegration of cells and loss of cytoplasmic organelles. These cells contained many lysosomal and autophagous bodies and damaged mitochondria. Their nuclei appeared pyknotic and fragmentary. The synapses in the outer plexiform layer were extensively degenerated and replaced with empty vacuoles and disintegrated organelles.</p> <p>Conclusion</p> <p>This case provides a convincing histological evidence of melanoma-associated autoantibodies directly against transient receptor potential M1 channels that target the ON bipolar cell structures in the inner nuclear and outer plexiform layers in paraneoplastic vitelliform retinopathy.</p