LMX1B Locus Associated with Low-Risk Baseline Glaucomatous Features in the POAAGG Study.

Primary open-angle glaucoma (POAG) is the leading cause of irreversible blindness worldwide and has been associated with multiple genetic risk factors. The LMX1B gene is a genetic susceptibility factor for POAG, and several single-nucleotide polymorphisms (SNPs) were shown to be associated with POAG in our own prior Primary Open-Angle African American Glaucoma Genetics (POAAGG) study genome-wide association study (GWAS). This study evaluated the association of the LMX1B locus with baseline optic disc and clinical phenotypic characteristics of glaucoma patients from our African American cohort. Compared to the GG genotype in SNP rs187699205, the GC genotype in this SNP was found to be significantly associated with a smaller cup-to-disc ratio (CDR) and increased (better) visual field mean deviation (MD) in glaucoma cases. None of the glaucoma cases with the GC genotype had disc hemorrhages, disc notching, or beanpot disc appearance. In conclusion, glaucoma phenotypes differed significantly by LMX1B variant in African American patients with POAG, and a SNP variant was associated with certain disease features considered lower risk.

Comparison of strategies for grading retinal images of premature infants for referral warranted retinopathy of prematurity.

PURPOSE: To determine the accuracy of identifying referral-warranted retinopathy of prematurity (RW-ROP, defined as any zone I ROP, stage 3 or worse, or plus disease) from retinal image sets using three grading protocols: a single optic disk-centered image, a set of 3 horizontal images, and a 5-image set. METHODS: In this secondary analysis of images from the e-ROP study, a weighted sample of 250 image sets from 250 infants (125 with RW-ROP and 125 without RW-ROP) was randomly selected. The sensitivities and specificities for detecting RW-ROP and its components from a single disk center image, along with nasal and temporal retinal images, were calculated and compared with the e-ROP grading of RW-ROP of all 5 retinal images (disk center and nasal, temporal, superior, and inferior retinal images). RESULTS: RW-ROP was identified with a sensitivity of 11.2% (95% CI, 6.79%-17.9%) using a single disk center image, with a sensitivity of 70.4% (95% CI, 61.9%-77.9%) using 3 horizontal images, and a statistically higher sensitivity of 82.4% (95% CI, 75.0%-89.0%) using all 5 images (P = 0.002). The specificities were 100%, 86.4%, and 90.4%, respectively. For grading using 3 horizontal images, sensitivity was 14.3% for plus disease, 25% for zone I ROP, and 71.2% for stage 3 or worse compared to 40.8%, 50%, and 79.8% for grading using 5-image sets, respectively. CONCLUSIONS: Both a single, disk-centered, posterior pole image and 3 horizontal images were less effective than a 5-image set in determining the presence of RW-ROP on qualitative grading by trained readers.

Point pressure sensitivity in early stage Parkinson's disease.

A number of sensory changes occur in the earliest stages of Parkinson's disease (PD), some of which precede the expression of the classic motor phenotype by years (e.g., olfactory dysfunction). Whether point pressure sensitivity (PPS), a cutaneous measure of light touch mediated by myelinated Aß fibers, is altered in early PD is not clear. Prior studies on this point are contradictory and are based on non-forced-choice threshold tests that confound the sensitivity measure with the response criterion. While α-synuclein pathology, a defining feature of PD, is present in the skin of PD patients, it is restricted to unmyelinated nerve fibers, suggesting PPS may be spared in this disease. We determined PPS thresholds using a state-of-the-art forced-choice staircase threshold test paradigm in 29 early stage PD patients and 29 matched controls at 11 body sites: the center of the forehead and the left and right forearms, index fingers, palms, medial soles of the feet, and plantar halluces. The patients were tested, in counterbalanced sessions, both on and off dopamine-related medications (DRMs). PPS was not influenced by PD and did not correlate with DRM l-DOPA equivalents, scores on the Unified Parkinson's Disease Rating Scale, side of the major motor disturbances, or SPECT imaging of the striatal dopamine transporter, as measured by technetium-99m TRODAT. However, PPS thresholds were lower on the left than on the right side of the body (p=0.008) and on the upper extremities relative to the toes and feet (ps<0.0001). Positive correlations were evident among the thresholds obtained across all body sectors, even though disparate regions of the body differed in terms of absolute sensitivity. This study indicates that PPS is not influenced in early stage PD regardless of whether patients are on or off DRMs.

A comparison of hang-back with conventional recession surgery for exotropia.

BACKGROUND: The hang-back loop suspension surgical technique for rectus muscle recession offers potential advantages over the conventional rectus muscle recession, including better exposure at the site of scleral sutures, shorter procedure duration, and lower risk of scleral perforation. Previous reports suggest that the hang-back technique for lateral rectus recession for exotropia results in poorer surgical success and may require a different surgical dosage. METHODS: We compared strabismus in a nonrandomized series of 55 children with exotropia treated with conventional surgery or hang-back surgery. Those in the hang-back (suspension) recession group were on average 2.5 years younger and had 8(Delta) more preoperative exotropia at distance. RESULTS: Surgical outcomes were not significantly different in the two treatment groups. Multivariate logistic regression suggests that outcomes are at least equivalent to conventional surgery after adjusting for age, severity, and other preoperative factors likely associated with outcome. CONCLUSIONS: The hang-back surgical technique was as effective as conventional lateral rectus recession surgery for children with exotropia.

Risk factors for choroidal neovascularization and vision loss in the fellow eye study of CNVPT.

PURPOSE: To identify risk factors for the development of choroidal neovascularization (CNV) and vision loss in the Fellow Eye Study of the Choroidal Neovascularization Prevention Trial. METHODS: Retrospective review of 121 patients enrolled in a multicentered, randomized, controlled trial. Patients had neovascular age-related macular degeneration in one eye and more than 10 large drusen in the other eye. Records of patients randomly assigned to laser treatment or observation were reviewed through 4 years of follow-up. Three candidate risk factors for the development of CNV and vision loss were evaluated. RESULTS: Eyes with hyperfluorescent drusen on fluorescein angiography at 3 minutes appeared to have a decreased risk of CNV. Patchy choroidal filling was seen in 14% of patients. Eyes with patchy choroidal perfusion showed a higher risk of developing CNV that was not statistically significant, and the increased risk was present only in treated eyes. Reticular pseudodrusen were present in only three eyes. CONCLUSIONS: Reticular pseudodrusen were rare. Late drusen fluorescence may protect against the development of CNV.