Genetic Risk Assessment of Degenerative Eye Disease (GRADE): study protocol of a prospective assessment of polygenic risk scores to predict diagnosis of glaucoma and age-related macular degeneration.

BACKGROUND: Glaucoma and age-related macular degeneration (AMD) account for a substantial portion of global blindness. Both conditions are highly heritable, with recognised monogenic and polygenic inheritance patterns. Current screening guidelines lack decisive recommendations. Polygenic risk scores (PRS) allow for cost-effective broad population risk stratification for these conditions. The predictive potential of PRS could facilitate earlier diagnosis and treatment, and prevent unnecessary vision loss. METHODS: The Genetic Risk Assessment of Degenerative Eye disease (GRADE) study is a prospective study designed to generate high-quality evidence about the feasibility of PRS to stratify individuals from the general population, enabling identification of those at highest risk of developing glaucoma or AMD. The targeted recruitment is 1000 individuals aged over 50 years, from which blood or saliva samples will be used for genotyping and an individual PRS for glaucoma and AMD will be derived. Individuals with PRS values in the bottom decile (n = 100), top decile (n = 100) and middle 80% (n = 100) for both glaucoma and AMD will undergo a detailed eye examination for glaucoma and/or AMD. DISCUSSION: The primary objective will be to compare the prevalence of glaucoma and AMD cases between low, intermediate, and high PRS risk groups. We expect to find a higher prevalence of both diseases in the high PRS risk group, as compared to the middle and low risk groups. This prospective study will assess the clinical validity of a PRS for glaucoma and AMD in the general Australian population. Positive findings will support the implementation of PRS into clinical practice.

Telemedicine Proof of Concept and Cost Savings During Underway Naval Operations.

Objectives: With military service members stationed around the world aboard ships and remote fixed facilities, subspecialty care frequently occurs outside of the TRICARE network, the health care program of the United States Department of Defense Military Health System, including foreign hospitals. Furthermore, usage aboard U.S. Navy ships has been limited in scope. This has direct costs associated with the medical care rendered and indirect costs such as difficulty navigating medical systems, access to records, and appropriate follow-up. Telemedicine has expanded access to otolaryngologic care where coverage has been deficient, with overall costs that are not well defined. This study aims to demonstrate the ability of consult management aboard a deployed U.S. Navy ship and to determine the direct costs associated with the use of an HIPAA-compliant, store-and-forward telemedicine system available to overseas medical providers to obtain specialty consultation at a tertiary care military treatment facility. Study Design: Retrospective case series. Methods: We reviewed consults submitted through the system from February 2018 to May 2018. Consult management was performed remotely by a deployed otolaryngologist in various locations underway and in port in the Pacific Rim. The direct cost associated with each consult was compared with the cost had the patient been treated in the host nation. Results: During the deployment, there were eight consults submitted and directed to a neurotologist/skull base surgeon for an opinion. The estimated cost for treating these patients overseas was $124,037, while the estimated cost of retaining the patients in the Military Health System was $27,330. Extrapolated to a 12-month period, the cost savings of this program could be over $400,000. Conclusions: Telemedicine consultation has the ability to be initiated and managed remotely-expanding access to subspecialty physicians by service members stationed around the world. Furthermore, it has the potential for substantial cost savings within the military health care system along with intangible benefits that sustain the military health care system downstream.

Incidence of visual impairment due to cataract, diabetic retinopathy and trachoma in indigenous Australians within central Australia: the Central Australian Ocular Health Study.

BACKGROUND: To estimate the incidence and causes of visual impairment for the purposes of service provision among the indigenous Australian population within central Australia from its most common causes, namely cataract, diabetic retinopathy and trachoma. DESIGN: Clinic-based cohort study. PARTICIPANTS: One thousand eight hundred eighty four individuals aged ≥20 years living in one of 30 remote communities within the statistical local area of 'Central Australia'. METHODS: From those initially recruited, 608 (32%) participants were reviewed again between 6 months and 3 years (median 2 years). Patients underwent Snellen visual acuity testing and subjective refraction. Following this, an assessment of their anterior and posterior segments was made. Baseline results were compared with those who were reviewed. MAIN OUTCOME MEASURES: The annual incidence rates and causes of visual impairment (vision worse than Snellen visual acuity 6/12 in at least one eye). RESULTS: The incidence of visual impairment in at least one eye was 6.6%, 1.2% and 0.7% per year for cataract, diabetic retinopathy and trachoma, respectively (7.9%, 1.5% and 0.7% per year for those aged ≥40 years). Advancing age was the main risk factor common to all three. CONCLUSION: It is important to be mindful not only of the prevalence of disease in a community but also of the rate at which new cases are occurring when allocating resources to address the ocular health needs of this region. Compared with historical data, diabetic retinopathy is emerging as a new and increasing threat to vision in this population.

Comparison of clinical optic disc assessment with tests of early visual field loss.

PURPOSE: Clinical optic disc assessment may identify glaucomatous optic neuropathy prior to a patient developing visual field abnormalities on achromatic automated peri-metry (AAP). Tests targeting axons that are selectively damaged or whose redundancy is low, such as short wavelength automated perimetry (SWAP) and frequency doubling perimetry (FDP), may detect visual field loss before it is seen on AAP. This study investigated whether patients in whom characteristic glaucomatous optic disc damage was present without AAP abnormalities had visual field abnormalities with SWAP and FDP. METHODS: A sample of patients (n = 50) with ocular hypertension (normal AAP) were selected, who had SWAP, FDP and stereofundus photography performed. The photographs were then analysed by two glaucoma subspecialists who were masked to the assessments of the other and to the patients' SWAP and FDP results. A categorization of the optic discs was made as either normal or abnormal and this was compared with their SWAP and FDP findings. RESULTS: On comparing SWAP and FDP with clinical optic disc assessment as the 'gold standard', the sensitivity, specificity, positive predictive value (PPV) and negative predictive value (NPV) were 33%, 92%, 57% and 81%, respectively, for SWAP and 25%, 89%, 49% and 79%, respectively, for FDP. CONCLUSION: In glaucoma suspects, the study suggests that SWAP and FDP identify subjects with early glaucomatous optic neuropathy missed by AAP.