Ectopic Ocular Surface Calcification in Patients With Hypophosphatasia Treated With Asfotase Alfa.

Purpose: To assess for ectopic ocular calcification in a series of patients with hypophosphatasia (HPP) treated with asfotase alfa, a recombinant tissue-nonspecific alkaline phosphatase.

Methods: This is a retrospective analysis of subjects enrolled at Duke University Medical Center in ENB-009-10 (ClinicalTrials.gov: NCT01163149), a randomized controlled trial of asfotase alfa in adolescents and adults with HPP.

Osteogenesis imperfecta and primary open angle glaucoma: genotypic analysis of a new phenotypic association.

Purpose: Osteogenesis imperfecta (OI) is a group of inherited disorders characterized by bone fragility. Ocular findings include blue sclera, low ocular rigidity, and thin corneal thickness. However, there are no documented cases linking OI and primary open angle glaucoma (POAG).

Artifacts in spectral-domain optical coherence tomography measurements in glaucoma.

IMPORTANCE Spectral-domain optical coherence tomography (SD-OCT) has an integral role in the diagnosis and treatment of glaucoma. Understanding the types of artifacts commonly seen in the imaging of patients being evaluated for glaucoma will help physicians better implement these data in the care of patients. OBJECTIVES To determine the frequency and distribution of SD-OCT imaging artifacts in patients being evaluated for glaucoma and to provide examples of common artifacts.

Patient and family attitudes about an eye donation registry for research.

Purpose: There is a shortage of human eye tissue available for scientists, and it is unknown how willing ophthalmic patients are to donate their eyes for research. Therefore, we assessed eye patient and family member attitudes regarding the establishment of an eye donation registry for research purposes.

Materials And Methods: Surveys were distributed to consecutive patients attending the clinics of an academic ophthalmology practice over a period of 8 days.

Genome-wide linkage scan for primary open angle glaucoma: influences of ancestry and age at diagnosis.

Primary open-angle glaucoma (POAG) is the most common form of glaucoma and one of the leading causes of vision loss worldwide. The genetic etiology of POAG is complex and poorly understood. The purpose of this work is to identify genomic regions of interest linked to POAG.

Myocilin and optineurin coding variants in Hispanics of Mexican descent with POAG.

Coding variants in both myocilin (MYOC) and optineurin (OPTN) are reported risk factors for primary open-angle glaucoma (POAG) in many populations. This study investigated the contribution of MYOC and OPTN coding variants in Hispanics of Mexican descent with and without POAG. We conducted a case-control study of unrelated POAG cases and nonglaucomatous controls in a population of Hispanics of Mexican descent.

Evaluation of the ICare rebound tonometer as a home intraocular pressure monitoring device.

Purpose: (a) To investigate whether the ICare rebound tonometer can provide accurate measurements of intraocular pressure (IOP) in the hands of an inexperienced user compared with ICare measurements and Goldmann tonometry by a trained technician and (b) to assess the intrauser reproducibility of IOP measurements and the learning curve among patients using the ICare rebound tonometer.

Methods: A trained technician used the ICare rebound tonometer to measure the IOP of the right eye of 100 glaucoma patients. The technician then instructed each patient on use of the ICare tonometer.

Glaucoma patients' trust in the physician.

Objectives. To describe glaucoma patients' trust in the physician and to test the hypothesis that increased interpersonal trust is associated with increased medication adherence. Methods.

Distribution of WDR36 DNA sequence variants in patients with primary open-angle glaucoma.

Purpose: To determine the distribution of WDR36 sequence variants in a cohort of patients with primary open-angle glaucoma (POAG) in the United States.

Methods: All of the 23 coding exons and flanking introns of the WDR36 gene were sequenced in 118 probands from families with at least two members affected by POAG, 6 probands from juvenile-onset POAG families, and 108 control individuals.

Results: Thirty-two WDR36 sequence variants were found in this population of patients with POAG.

Early adult-onset POAG linked to 15q11-13 using ordered subset analysis.

Purpose: Primary open-angle glaucoma (POAG) is a complex inherited disorder. It has been demonstrated in other complex disorders that phenotypic heterogeneity may be the result of genetic heterogeneity and that stratification analysis can be used to increase the power of detection. Ordered subset analysis (OSA) is a recently described method that utilizes the variability of phenotypic traits to determine underlying genetic heterogeneity.

Patient expectations regarding eye care: focus group results.

Background: Increasing emphasis on patient-centered care and other recent developments should make patient expectations increasingly important in ophthalmology. Motivated by the pivotal role of patient expectations in quality-of-care assessments and by the limited knowledge about patients' expectations regarding eye care, we initiated a pilot study using focus groups to determine a relevant set of concerns that patients express as expectations.

Methods: A total of 6 focus groups were conducted with patients at Duke University Eye Center (Durham, NC).