Accuracy and Precision of the Corneal Analysis System and the Topographic Modeling System

Wilson, Steven E.; Verity, Steven M.; Conger, Darrel

doi:10.1097/00003226-199201000-00004

Cited by 64 publications

(20 citation statements)

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“…3. Under both unbiased (A) and most conservative (D) scenarios, the evidence for suggestive Table 3 Maximum LOD scores on chromosome 5 under four different pedigree scenarios using autosomal dominant model with penetrance ϭ 0.8, phenocopy ϭ 0.01 for both initial, and fine mappings linkage (LOD Ͼ 2) was obtained.…”

Section: Initial Genome Scan and Fine Mappingmentioning

confidence: 99%

“…1,2 Keratoconus can be diagnosed by well-recognized clinical signs, including stromal thinning, Vogt's striae, Fleischer's ring, and scissoring of the retinoscopic reflex with a fully dilated pupil. 3,4 The most sensitive and accurate diagnostic method is the computer-assisted videokeratography generated by devices such as the Topographic Modeling System (TMS-1). The TMS-1generates thousands of data points from the center of the cornea to the periphery for visual display.…”

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confidence: 99%

“…It can be used to detect keratoconus at an early stage before clinical signs are apparent. 3,4 Although the etiology of keratoconus is unknown, several lines of evidence support an underlying genetic basis for this disease. [5][6][7][8] This evidence includes the following: reports of keratoconus associated with other genetic disorders, such as Down and Marfan syndrome, 9 observations of multigeneration pedigrees with either a dominant or recessive inheritance patterns with incomplete penetrance, 1,7 and a reported 6% to 23.5% positive family history among patients with keratoconus.…”

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confidence: 99%

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Genomewide linkage scan in a multigeneration Caucasian pedigree identifies a novel locus for keratoconus on chromosome 5q14.3-q21.1

Tang

Rabinowitz

Taylor

et al. 2005

Genetics in Medicine

106

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Purpose: Keratoconus is a corneal dystrophy with an incidence of 1 in 2000 and a leading cause for cornea transplantation in Western developed countries. Both clinical observations and segregation analyses suggest a major role for genes in its pathogenesis. It is genetically heterogenous, most commonly sporadic, but inherited patterns with recessive or dominant modes have also been reported. We studied a four-generation autosomaldominant pedigree to identify disease loci for keratoconus. Methods: A two-stage genome-wide scan was applied to 27 family members. First linkage analysis was performed with 343 microsatellite markers along the 22 autosomal chromosomes at Ϸ10 cM density. This was followed by fine mapping at Ϸ2 cM density, in regions suggestive of linkage. Multipoint linkage analysis was performed using GeneHunter2. Results: Evidence of suggestive linkage from the initial scan was observed at the 82 to 112 cM region of chromosome 5q14.1-q21.3 with a maximum lod score (LOD) of 3.48 (penetrance ϭ 0.5). Fine mapping by testing an additional 11 microsatellite markers at 1 to 3 cM intervals revealed a narrower and higher peak (99 -119 cM) with LOD 3.53. By analysis of the recombination of haplotypes, the putative locus of keratoconus was further narrowed to a 6 cM region (8.

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Section: Initial Genome Scan and Fine Mappingmentioning

confidence: 99%

mentioning

confidence: 99%

mentioning

confidence: 99%

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Genomewide linkage scan in a multigeneration Caucasian pedigree identifies a novel locus for keratoconus on chromosome 5q14.3-q21.1

Tang

Rabinowitz

Taylor

et al. 2005

Genetics in Medicine

106

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“…Family-based and twin studies have shown that genetic factors in particular play a significant role in the development of keratoconus and that there is a high concordance rate for keratoconus in monozygotic twins (Edwards et al 2001;McMahon et al 1999;Parker et al 1996;Wang et al 2000). A familial inheritance has been reported in 6-23% of patients with keratoconus, which reveals a genetic heterogeneity from autosomal dominant, with incomplete penetrance to autosomal recessive, but most reported keratoconus cases are sporadic (Bawazeer et al 2000;Rabinowitz 1998;Wang et al 2000;Wilson et al 1992).…”

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confidence: 99%

VSX1 gene variants are associated with keratoconus in unrelated Korean patients

2008

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Keratoconus is a bilateral ectatic disorder characterized by the central thinning of corneal tissue leading to visual impairment. To investigate the possibility of visual system homeobox 1 (VSXI) as a candidate susceptibility gene for Korean patients with keratoconus, we performed a mutation screening of the VSXI gene in 249 unrelated patients with keratoconus and 208 control subjects without the ocular disorder. We found two heterozygous novel missense mutations in exon 2: N151S and G160V. The G160V mutation was identified in 13 keratoconus patients (5.3%), and the N151S mutation was found in only one keratoconus patient (0.4%). We also detected three synonymous polymorphisms and four intragenic polymorphisms. The IVS1-11*a allele was associated with a significantly increased risk of keratoconus in Korean patients [3.6 vs. 0.5%, p = 0.001, odds ratio (OR) = 7.76, 95% confidence interval (CI) 1.989-30.241). Other polymorphisms did not show an association with keratoconus risk. Our data is the first reported VSX1 mutation screening in Korean keratoconus patients. We detected two novel missense mutations and one intragenic polymorphism in the VSX1 gene, which show a strong statistical association with unrelated keratoconus patients. Consequently, our study suggests that VSX1 gene variants seem to be significant genetic variants for keratoconus predisposition in unrelated Korean patients.

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“…For spheres, torics, and aspheric surfaces, 96.9%, 87.5%, and 60.4%, of measurements, respectively, were within ± 0.375 D. The measurements were highly repeatable, with a standard error of 0.02 D for 16 repeated measures. The TMS-1 and EyeSys (Placido-disk based systems) were compared by Wilson et al (1992) using spherical surfaces and normal human corneas, and by Antalis et al (1993) using abnormal corneas. The two systems gave similar results, except for a small advantage using the TMS-1 with abnormal corneas.…”

Section: Use Of Topographic Maps In the Evaluation Of The Corneamentioning

confidence: 99%