Showing papers by "John H. Fingert published in 2007"
TL;DR: The performance of the disc segmentation and LCDR calculation of the algorithm was comparable to that of glaucoma fellows in training and is promising for objective evaluation of optic disc cupping.
Abstract: RESULTS. The algorithm was able to assign cup, rim, and background correctly to 88% of all pixels. Correlations of the LCDR estimates of glaucoma fellows with those of the reference standard were 0.73 (95% CI, 0.58‐0.83), 0.81 (95% CI, 0.70‐ 0.89), and 0.86 (95% CI, 0.78‐0.91), respectively, whereas the correlation of the algorithm with the reference standard was 0.93 (95% CI, 0.89‐0.96; n 58). CONCLUSIONS. The pixel feature classification algorithm allows objective segmentation of the optic disc from conventional color stereo photographs automatically without human input. The performance of the disc segmentation and LCDR calculation of the algorithm was comparable to that of glaucoma fellows in training and is promising for objective evaluation of optic disc cupping. (Invest Ophthalmol Vis Sci. 2007;48: 1665‐1673) DOI:10.1167/iovs.06-1081
260 citations
104 citations
64 citations
University of Melbourne1, National Health and Medical Research Council2, University of Iowa3, Moorfields Eye Hospital4, Heidelberg University5, St Thomas' Hospital6, University of Wisconsin-Madison7, Johns Hopkins University8, University of Western Australia9, Emory University10, Wills Eye Institute11, University of Tasmania12
TL;DR: The results of this study suggest that the shape and size of the optic disc and cup are more heritable and should receive a greater priority for quantification than should vascular features.
Abstract: PURPOSE. Numerous genetic diseases and environmental stimuli affect optic nerve morphology. The purpose of this study was to identify the principal heritable components of visible optic nerve head structures in a population-based sample of twins. METHODS. Fifteen optic nerve specialists viewed stereoscopic optic nerve head photographs (Stereo Viewer-II; Pentax Corp., Tokyo, Japan) from 50 randomly selected monozygotic or dizygotic twin pairs. Before viewing, each expert was questioned about which optic nerve head traits they believed were inherited. After viewing a standardized teaching set, the experts indicated which twin pairs they thought were monozygotic. Participants were then questioned about how their decisions were reached. A rank-ordered Rasch analysis was used to determine the relative weighting and value applied to specific optic nerve head traits. RESULTS. The proportion of twin pairs for which zygosity was correctly identified ranged from 74% to 90% (median, 82%) across the panel. Experts who correctly identified the zygosity in more than 85% of cases placed most weighting on shape and size of the optic disc and cup, whereas experts with the lowest scores placed greater weighting on the optic nerve head vasculature in reaching their decisions. CONCLUSIONS. In determining the genetic components of the optic nerve head, the results of this study suggest that the shape and size of the optic disc and cup are more heritable and should receive a greater priority for quantification than should vascular features. (Invest Ophthalmol Vis Sci. 2007;48: 2469‐2475) DOI:10.1167/iovs.06-1470
28 citations
TL;DR: The discovery of the chromosomal location of a gene responsible for cavitary optic disk anomalies is a key step in identifying the genetic basis of this condition and ultimately may provide important insight into the pathogenesis of more common optic nerve diseases such as normal-tension glaucoma and primary open-angle glAUcoma (POAG).
21 citations
TL;DR: Genetic linkage analysis of this family has identified the chromosomal location of a gene responsible for ONH development, which may provide insight into the pathogenesis of glaucomatous ONH damage.
20 citations
TL;DR: No major structural or morphologic difference of the ONH was detected in pooled data from subjects who had myocilin mutations compared with data from individuals with nonmyOCilin glaucoma.
Abstract: PURPOSE. Approximately 1 in 30 unselected patients with open-angle glaucoma (OAG) have a mutation in the myocilin gene. The purpose of this study was to describe the morphologic features of the optic nerve head (ONH) in myocilin glaucoma.
METHODS. A case-control design was adopted. Sixty-six patients heterozygous for a range of myocilin mutation (cases) were matched in disease severity to 105 patients with OAG known not to have a myocilin mutation (controls), using visual field findings. Quantifiable analysis of the ONH was undertaken of stereoscopic photographs, by using custom software with a z-screen. Subjective grading of the cup depth, lamina cribrosa pore shape and orientation, and the slope of the neuroretinal rim was performed by an examiner masked to the subject’s mutation status. Mutation screening was conducted using either direct sequencing or single-stranded conformation polymorphism analysis.
RESULTS. Patients with a myocilin mutation had glaucoma diagnosed earlier (P 0.05) difference in global disc area, global neuroretinal rim area, -parapapillary atrophy, s-parapapillary atrophy, slope of neuroretinal rim, or visible lamina cribrosa morphology between myocilin mutation carriers and patients with nonmyocilin glaucoma. Disc hemorrhages were identified more frequently in those without mutations (14/209 vs. 1/129), though this was not significant after correction for multiple hypothesis testing.
CONCLUSIONS. No major structural or morphologic difference of the ONH was detected in pooled data from subjects who had myocilin mutations compared with data from individuals with nonmyocilin glaucoma
.
17 citations
TL;DR: The G4132A mitochondrial variation is associated with familial NA-AION in the authors' pedigree, and this variant was not identified in over 2469 ethnically diverse individuals previously evaluated through the Human Mitochondrial Genome Database.
Abstract: Objective: To identify the genetic factors associated with familial non-arteritic anterior ischemic optic neuropathy (NA-AION) in a large pedigree. Methods: Eleven family members of a single pedigree, including six affected with NA-AION, underwent detailed clinical examinations. The mitochondrial DNA of the proband was sequenced in its entirety in search of disease-causing mutations associated with NA-AION in the pedigree. A control panel comprising 1488 patients suspected of having Leber hereditary optic neuropathy (LHON) and 97 general-population control subjects was screened for the mitochondrial sequence variant identified in the family. Results: Affected family members were all male and exhibited classic features of NA-AION. Their mean age was 50.2 ± 5.0 years. A total of 23 sequence variations were detected in the mitochondrial genome of the proband, including one novel sequence variation (G4132A, Ala276Thr) in the NADH dehydrogenase subunit 1 gene (ND1). The G4132A mitochondrial variant was detecte...
14 citations
TL;DR: The work suggests that the disease associated with MYOC Gly252Arg is less severe than previously described in other pedigrees with this specific mutation, and health care professionals able to accurately counsel patients on their likely disease course.
Abstract: To determine the phenotype of an Australian
pedigree with the myocilin (MYOC) Gly252Arg mutation,
comparing it with other pedigrees carrying the same
mutatio
14 citations