Background Epilepsy is a common neurological disorder that affects approximately 50 million people worldwide. Both risk of epilepsy and response to treatment partly depend on genetic factors, and gene identification is a promising approach to target new prediction, treatment, and prevention strategies. However, despite significant progress in the identification of genes causing epilepsy in families with a Mendelian inheritance pattern, there is relatively little known about the genetic factors responsible for common forms of epilepsy and so-called epileptic encephalopathies. Study design The Epilepsy Phenome/Genome Project (EPGP) is a multi-institutional, retrospective phenotype–genotype study designed to gather and analyze detailed phenotypic information and DNA samples on 5250 participants, including probands with specific forms of epilepsy and, in a subset, parents of probands who do not have epilepsy. Results EPGP is being executed in four phases: study initiation, pilot, study expansion/establishment, and close-out. This article discusses a number of key challenges and solutions encountered during the first three phases of the project, including those related to (1) study initiation and management, (2) recruitment and phenotyping, and (3) data validation. The study has now enrolled 4223 participants. Conclusions EPGP has demonstrated the value of organizing a large network into cores with specific roles, managed by a strong Administrative Core that utilizes frequent communication and a collaborative model with tools such as study timelines and performance-payment models. The study also highlights the critical importance of an effective informatics system, highly structured recruitment methods, and expert data review.

Background: To compare screening referral recommendations made by remotely located ophthalmic technicians with those of an ophthalmologist examining digital photos obtained by a portable ophthalmic camera system powered by an iOS handheld mobile device (iPod Touch). Methods: Dilated screening eye exams were performed by ophthalmic technicians in four remote districts of Nepal. Anterior and posterior segment photographs captured with a Paxos Scope ophthalmic camera system attached to an iPod Touch 6 th generation device were uploaded to a secure cloud database for review by an ophthalmologist in Kathmandu. The ophthalmic technicians' referral decisions based on slit-lamp exam were compared to the ophthalmologist's recommendation based on the transmitted images. Results: Using the transmitted images, the ophthalmologist recommended referral for an additional 20% of the 346 total subjects screened who would not have been referred by the ophthalmic technician. Of those subjects, 34% were referred to the retina clinic. Conversely, among the 101 patients referred by the technician, the ophthalmologist concurred with the appropriateness of referral in more than 97% of cases but thought eight (2.8%) of those patients had variants of normal eye pathology. Conclusion: An ophthalmologist who reviewed data and photos gathered with the mobile device teleophthalmology system identified a significant number of patients whose need for referral was not identified by the screening technician. Posterior segment pathology was most frequently found by the remote reader and not by the technician performing dilated slit lamp examinations. These results are promising for further clinical implementation of handheld mobile devices as tools for teleophthalmic screening in resource-limited settings.

Purpose: To determine whether use of a mobile device-based ophthalmic camera by ophthalmic technicians (OTs) in village screening camps in Nepal followed by remote image interpretation by an ophthalmologist can improve detection of ocular pathology and medical decision-making. Design: Evaluation of mobile device-based ophthalmic camera through study of before and after clinical decision-making. Methods: One hundred forty patients over 18 years of age presenting to remote screening camps with best-corrected visual acuity ≤20/60 in one or both eyes were enrolled. Participants were examined by an OT with direct ophthalmoscopy. The technician recorded a diagnosis for each eye and a disposition for each patient. Patients then had anterior segment and fundus photos and/or videos taken using a smartphone-based ophthalmic camera system. Photos and videos were uploaded to a secure, HIPAA-compliant, cloud-based server, and interpreted by masked ophthalmologists from XXX, who independently recorded diagnoses and a disposition for each patient. Results: The diagnoses given by OTs and ophthalmologists differed in 42.4% of eyes. Diagnosis agreement was highest for cataract [k = 0.732, 95% confidence interval (CI) 0.65–0.81], but much lower for posterior segment (retina/optic nerve) pathology (k = 0.057, 95% CI −0.03–0.14). Ophthalmologists and OTs suggested different dispositions for 68.6% of patients. Agreement was highest for cataract extraction (k = 0.623, 95% CI 0.49–0.75), whereas agreement for referral to XXX was lower (k = 0.12, 95% CI 0.00–0.24). Conclusions: Remote ophthalmologist consultation utilizing a mobile device ophthalmic camera system is logistically feasible, easily scalable, and capable of capturing high-quality images in the setting of rural eye screening camps. Although OTs are well equipped to identify and triage anterior segment pathology, this technology may be helpful in the detection of and referral for posterior segment pathology.

No abstract