Purpose: The aim of this study was to assess risk for demographic variables and other health conditions that are associated with Fuchs endothelial corneal dystrophy (FECD).
Methods: We developed a FECD case-control algorithm based on structured electronic health record data and confirmed accuracy by individual review of charts at 3 Veterans Affairs (VA) Medical Centers. This algorithm was applied to the Department of VA Million Veteran Program cohort from whom sex, genetic ancestry, comorbidities, diagnostic phecodes, and laboratory values were extracted.
A major goal of precision medicine is to stratify patients based on their genetic risk for a disease to inform future screening and intervention strategies. For conditions like primary open-angle glaucoma (POAG), the genetic risk architecture is complicated with multiple variants contributing small effects on risk. Following the tepid success of genome-wide association studies for high-effect disease risk variant discovery, genetic risk scores (GRS), which collate effects from multiple genetic variants into a single measure, have shown promise for disease risk stratification.
View Article and Find Full Text PDFPurpose: Primary open-angle glaucoma (POAG) is a degenerative eye disease for which early treatment is critical to mitigate visual impairment and irreversible blindness. POAG-associated loci individually confer incremental risk. Genetic risk score(s) (GRS) could enable POAG risk stratification.
View Article and Find Full Text PDFThe availability of electronic health record (EHR)-linked biobank data for research presents opportunities to better understand complex ocular diseases. Developing accurate computable phenotypes for ocular diseases for which gold standard diagnosis includes imaging remains inaccessible in most biobank-linked EHRs. The objective of this study was to develop and validate a computable phenotype to identify primary open-angle glaucoma (POAG) through accessing the Department of Veterans Affairs (VA) Computerized Patient Record System (CPRS) and Million Veteran Program (MVP) biobank.
View Article and Find Full Text PDFOptom Vis Sci
December 2020
Significance: Whipple disease is a rare chronic, systemic bacterial infection that predominantly affects the small intestine but also other organs of the body. When left untreated, it can be not only vision threatening but also life threatening because of its central nervous system involvement. Therefore, early detection and treatment are important.
View Article and Find Full Text PDFSchizophrenia, a neurodevelopmental mental disorder with heterogeneous features, poses major social and health-care challenges in Australia and worldwide. Ophthalmic findings in patients with schizophrenia are varied and include conditions that result from psychotropic complications such as sun gazing, heritable genetic endophenotypes such as oculomotor abnormalities and strabismus, treatment-related complications such as chlorpromazine lenticular and corneal deposits, and co-morbid health problems such as poor compliance. This report reviews special considerations for eye care in schizophrenia and provides case examples to illustrate the complexity of problems that optometrists may encounter with this population.
View Article and Find Full Text PDFClin Exp Optom
November 2017
Small suspicious choroidal neoplasms commonly present a diagnostic challenge in primary eye-care clinics, where they are most likely to present. Differentiating benign from malignant choroidal neoplasms is essential for facilitating early diagnosis and treatment, potentially decreasing the risk of metastasis and vision loss in some cases. The purpose of this review is to describe the clinical, spectral-domain optical coherence tomography and fundus autofluorescence features of suspicious choroidal neoplasms in a case series of patients presenting to a primary eye-care clinic at the Veterans Health Administration, Cleveland, Ohio, USA.
View Article and Find Full Text PDFPURPOSE.: Miller Fisher syndrome (MFS) is a rare immune-mediated neuropathy that commonly presents with diplopia after the acute onset of complete bilateral external ophthalmoplegia. Ophthalmoplegia is often accompanied by other neurological deficits such as ataxia and areflexia that characterize MFS.
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