Videokeratography database of normal human corneas.

Rabinowitz, Yaron S.; Yang, Huiying; Brickman, Y.; Akkina, J.; Riley, Colleen; Rotter, Jerome I.; Elashoff, Janet

doi:10.1136/bjo.80.7.610

Cited by 114 publications

(79 citation statements)

References 14 publications

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“…Both patients (II-4, III-14) had an AB/SRAX pattern that has been demonstrated in several studies to be an excellent and highly accurate videokeratograph recognition pattern for keratoconus. 7,26,28 The significant linkage evidence (LOD ϭ 3.53) and the fact that all affected individuals in this pedigree inherited the identical haplotype within each of the two families argue that there is likely to be a novel locus on 5q14.3-q21.1, which may be specific to this pedigree or a subset of familial dominant keratoconus. Considering all previously reported and this current linkage evidence in aggregate, it is clear that we are dealing with a genetically heterogeneous disorder although some of these loci may be the result of the type 1 error.…”

Section: Discussionmentioning

confidence: 99%

“…The best videokeratograph of the four was selected based on the quality of the keratoscope mires by visual inspection. Three members of our research team, who had no knowledge of the clinical status of the patient, then independently inspected each selected videokeratograph and assigned a pattern according to a videokeratograph scheme developed by our group 26,27 (Fig. 2).…”

Section: Study Subjects and Clinical Evaluationmentioning

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: Discussionmentioning

confidence: 99%

Section: Study Subjects and Clinical Evaluationmentioning

confidence: 99%

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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“…1,[25][26][27][28] Many studies have been conducted to characterize the keratoconus "topographical phenotype" by means of computerized corneal videokeratography. 1,12,29,30 In most patients affected by keratoconus, the topographic map of the anterior corneal surface is characterized by focal steepening over the peripheral or midperipheral zone, which coincides with the location of the conical protrusion that commonly expands over fewer than 2 quadrants. 1 Therefore, the typical appearance of the keratoconic topographic map is the presence of a well-delimited zone with a high dioptric value, surrounded by progressively decreasing curvature zones ( Figure 1).…”

Section: Analysis Of the Topographic Mapmentioning

confidence: 99%

Characterization of corneal structure in keratoconus

Piñero¹,

Nieto²,

López-Miguel³

2012

Journal of Cataract and Refractive Surgery

141

113

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“…These have been described in detail elsewhere (Rabinowitz and Rasheed, 1999;Rabinowitz et al, 1996;Rabinowitz and McDonell, 1989).…”

Section: Videokeratography Measurementsmentioning

confidence: 99%

Longitudinal study of keratoconus progression

Yang

Rabinowitz

2007

Experimental Eye Research

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To determine if differences in topographic progression between unaffected keratoconus relatives and normal controls can predict factors associated with the development of keratoconus in a longitudinal study.We recruited 369 unaffected keratoconus relatives and 119 normal controls in Los Angeles. Both eyes of subjects were examined at baseline clinically and by quantitative videokeratography and at a period ranging from 1 year to 8 years. Progression to keratoconus was evaluated by quantitative videokeratography variables.Unaffected relatives had higher Central K (CK), I-S and KISA values and were younger than normal controls (CK: 44.70 vs 44.01, P<0.01; I-S: 0.76 vs 0.58, P<0.01, KISA: 29.97 vs 23.89, P=0.02; age: 34.8 vs 41.0, P<0.01) at baseline. All three indices significantly increased with age, and CK and KISA values were associated with a positive family history for keratoconus (P<0.001 for CK and P=0.05 for KISA), however, the two groups were not statistically different in progression of keratoconus. After grouped unaffected relatives as the high risk (age<=30 or Central K>=47.2 or I-S >=1.2 or KISA>=60) and the low risk (age>30 and Central K<47.2 and I-S <1.2 and KISA<60), relatives in the high risk group had a greater increase in CK and I-S values than those in the low risk group (CK: p=0.009; I-S: p<0.001), which indicated that there were significantly different rates of progression between two groups.Unaffected relatives had higher videokeratography indices than normal controls, but overall they did not progress to keratoconus quicker than normal controls. However, relatives in a high risk group may have a greater risk of progression to keratoconus.

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Videokeratography database of normal human corneas.

Cited by 114 publications

References 14 publications

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

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

Characterization of corneal structure in keratoconus

Longitudinal study of keratoconus progression

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