The FaceBase Consortium: A comprehensive program to facilitate craniofacial research

The FaceBase Consortium consists of ten interlinked research and technology projects whose goal is to generate craniofacial research data and technology for use by the research community through a central data management and integrated bioinformatics hub. Funded by the National Institute of Dental and Craniofacial Research (NIDCR) and currently focused on studying the development of the middle region of the face, the Consortium will produce comprehensive datasets of global gene expression patterns, regulatory elements and sequencing; will generate anatomical and molecular atlases; will provide human normative facial data and other phenotypes; conduct follow up studies of a completed genome-wide association study; generate independent data on the genetics of craniofacial development, build repositories of animal models and of human samples and data for community access and analysis; and will develop software tools and animal models for analyzing and functionally testing and integrating these data. The FaceBase website (http://www.facebase.org) will serve as a web home for these efforts, providing interactive tools for exploring these datasets, together with discussion forums and other services to support and foster collaboration within the craniofacial research community

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

MANAGEMENT OF RETINAL HEMANGIOBLASTOMA IN VON HIPPEL-LINDAU DISEASE.

PurposeTo review the current state of diagnosis and management of retinal hemangioblastoma and retinal vascular proliferation arising from von Hippel-Lindau (VHL) disease.MethodsA review of the literature was performed. Consensus was reached among authors regarding current practice, with reference to published data where possible.Resultsvon Hippel-Lindau disease and its ocular manifestations are relatively rare, and there is limited evidence in the literature on which to base management. There was consensus on core principles, including 1) recognition and diagnosis of von Hippel-Lindau disease when present, with appropriate referral for care of this potentially lethal systemic condition; 2) regular ophthalmic evaluation for individuals with von Hippel-Lindau disease, to identify and offer timely treatment for new or active retinal hemangioblastomas; 3) ablative treatment of retinal hemangioblastomas that can be safely destroyed, to lower risk of vision loss; 4) observation or consideration of nonablative treatments for retinal hemangioblastomas that cannot be safely destroyed; and 5) observation of asymptomatic retinal vascular proliferation, with consideration of vitrectomy for lesions exerting effects on vision.ConclusionOcular outcomes can be gratifying in many cases with appropriate management. Improved understanding of the molecular basis for the disease creates an opportunity for rational design of better therapies

Primary central nervous system lymphoma: Inter‐compartmental progression

Abstract There is limited understanding of the inter‐compartmental progression and treatment outcomes of primary central nervous system lymphoma (PCNSL). In this multicenter retrospective cohort study on 234 patients with PCNSL (median age: 62.5 years [18–92]; median follow‐up 35 months [0.1–237.0]) from 2000 till 2018 were divided into group 1 (ocular, 44 patients): 1A and 1B without and with CNS progression and group 2 (CNS, 190 patients): 2A and 2B without and with ocular progression, respectively. In group 1 (44 patients), 33 patients received local treatment, and 11 patients received systemic treatment. In group 2 (15 patients), six patients received combination treatment, while seven patients received only systemic treatment. A complete response was observed in 19 (43%) and 91 (48%) patients in groups 1 and 2, respectively. The 2‐year progression‐free survival (PFS) was 35% (95% CI: 0.23, 0.54) and 56% (95% CI: 0.49, 0.63) for groups 1 and 2, respectively (p < 0.0001). Age < 60 years was significantly associated with longer PFS (median PFS 48 vs. 24 months, p = 0.01). The overall survival (OS) at 2‐year was similar among groups 1 and 2 (83% and 67%), respectively (p = 0.06). Thus, Initial compartment of involvement does not influence local response rate or OS