Estimation of the Incidence and Factors Predictive of Corneal Scarring in the Collaborative Longitudinal Evaluation of Keratoconus (CLEK) Study

Barr, Joseph T.; Wilson, Brad; Gordon, Mae O.; Rah, Marjorie J.; Riley, Colleen; Kollbaum, Pete; Zadnik, Karla

doi:10.1097/01.ico.0000164831.87593.08

Cited by 121 publications

(57 citation statements)

References 13 publications

(9 reference statements)

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“…However, in most patients KTCN is an isolated ocular disorder and not a feature of a specific syndrome. Clinical studies have suggested that KTCN is associated with contact lens wear, chronic eye rubbing, and atopy of the eye 1,9,10. Despite extensive study, the pathophysiological processes and the genetic etiology underlying KTCN have yet to be elucidated.…”

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confidence: 99%

Localization of a Gene for Keratoconus to a 5.6-Mb Interval on 13q32

Gajęcka

Radhakrishna

Winters

et al. 2009

Invest. Ophthalmol. Vis. Sci.

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Purpose Keratoconus (KTCN) is a noninflammatory thinning and anterior protrusion of the cornea that results in steepening and distortion of the cornea, altered refractive powers, and reduced visual acuity. Several loci responsible for a familial form of KTCN have been mapped, however; no mutations in any genes have been identified for any of these loci. There is also evidence that VSX1 and SOD1 may be involved in the etiology of KTCN. The purpose of this study was to verify the available data and to identify a new keratoconus susceptibility locus. Methods KTCN without other ocular or systemic features was diagnosed in 18 families. VSX1 and SOD1 sequencing was performed on affected individuals and control subjects. Genomewide linkage analysis was then performed in all families using polymorphic microsatellite markers with an average spacing of 5 cM. Next, single-nucleotide polymorphism (SNP) arrays, fluorescence in situ hybridization (FISH) analysis, and a comparative genomic hybridization array were used in one family to assess a candidate region on 13q32. Results All previously reported KTCN loci were excluded. VSX1 and SOD1 were sequenced, and no potentially functional variants were found. One KTCN family yielded a maximum multipoint parametric LOD score of 4.1 and multipoint non-parametric linkage (NPL) LOD score of 3.2. Multipoint linkage and haplotype analysis narrowed the locus to a 5.6-Mb region between the SNPs rs9516572 and rs3825523 on 13q32. Conclusions The results exclude VSX1 and SOD1 as potential disease-causing genes in these families and localize a novel gene for keratoconus to a 5.6-Mb interval on 13q32.

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confidence: 99%

Localization of a Gene for Keratoconus to a 5.6-Mb Interval on 13q32

Gajęcka

Radhakrishna

Winters

et al. 2009

Invest. Ophthalmol. Vis. Sci.

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“…Keratoconus is a multifactorial disease involving complex interaction of both genetic and environmental factors (15, 16, 18–24, 48). The majority of studies narrowly focus on the identification of a single gene as the possible cause of KC; however, a large number of these studies have not been confirmed and the association of the disease with a single gene has not been established (17, 31, 48).…”

Section: Discussionmentioning

confidence: 99%

Mitochondrial Profile and Responses to TGF-β Ligands in Keratoconus

Sarker-Nag

Hutcheon

Karamichos

2015

Current Eye Research

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PURPOSE Keratoconus (KC) is a complex corneal dystrophy with multifactorial etiology. Previous studies have shown evidence of mitochondrial abnormalities in KC; however, the exact cause of these abnormalities remains unknown. The aim of this study was to identify if transforming growth factor-β (TGF-β) isoforms play a role in the regulation of mitochondrial proteins in human keratoconus cells (HKC). MATERIALS AND METHODS Human corneal fibroblasts (HCF) and HKC were isolated and cultured for four weeks in three different conditions: a) Control: MEM+10%FBS, b) MEM+10%FBS+TGF-β1, and c) MEM+10%FBS+TGF-β3. All samples were processed for mitochondrial damage analysis using real-time PCR. RESULTS We quantified and analyzed 84 mitochondrial and 5 housekeeping genes in HCFs and HKCs. Our data showed that when TGF-β1 and/or TGF-β3 were compared with control in HCFs, nine genes were significantly different; however, no genes were significantly regulated by the TGF-β isoforms in HKCs. Significant differences were also seen in seven genes when HFCs were compared to HKCs, in all three conditions. CONCLUSIONS Overall, our data supports the growing consensus that mitochondrial dysfunction is a key player in KC disease. These in vitro data show clear links between mitochondrial function and TGF-β isoforms, with TGF-β1 severely disrupting KC-mitochondrial function, while TGF-β3 maintained it, thus suggesting that TGF-β may play a role in KC-disease treatment.

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“…This examination included refraction biomicroscopic cornea and anterior segment evaluation, fundus examination, and intraocular pressure measurement. The keratoconus diagnosis was made with the classic corneal biomicroscopic findings and the use of the Collaborative Longitudinal Evaluation of Keratoconus (CLEK) Study criteria to evaluate the topographical findings [1, 9, 10]. Eyes with no other problems during the examination were included in the study.…”

Section: Methodsmentioning

confidence: 99%

Effect of Cycloplegia on Keratometric and Biometric Parameters in Keratoconus

Polat

Gündüz

2016

Journal of Ophthalmology

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Purpose. To obtain information about effect of cycloplegia on keratometry and biometry in keratoconus. Methods. 48 keratoconus (Group 1) and 52 healthy subjects (Group 2) were included in the study. We measured the flat meridian of the anterior corneal surface (K1), steep meridian of the anterior corneal surface (K2), lens thickness (LT), anterior chamber depth (ACD), and axial length (AL) using the Lenstar LS 900 before and after cycloplegia. Results. The median K1 in Group 1 was 45.64 D before and 45.42 D after cycloplegia, and the difference was statistically significant (P < 0.05). The median K2 in Group 1 was 50.96 D before and 50.17 D after cycloplegia, and the difference was significant (P < 0.05). The median K1 and K2 in Group 2 were 42.84 and 44.49 D, respectively, before cycloplegia, and 42.84 and 44.56 D after cycloplegia, and the differences were not statistically significant (all P > 0.05). There were significant differences in SE, LT, ACD, and RLP between before and after cycloplegia in either Group 1 (all P < 0.05) or Group 2 (all P < 0.05). There were not statistically significant differences in AL between before cycloplegia and after cycloplegia in either Group 1 (P = 0.533) or group 2 (P = 0.529). Conclusions. Flattened corneal curvature and increase in ACD following cycloplegia in keratoconus patients were detected.

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Estimation of the Incidence and Factors Predictive of Corneal Scarring in the Collaborative Longitudinal Evaluation of Keratoconus (CLEK) Study

Cited by 121 publications

References 13 publications

Localization of a Gene for Keratoconus to a 5.6-Mb Interval on 13q32

Localization of a Gene for Keratoconus to a 5.6-Mb Interval on 13q32

Mitochondrial Profile and Responses to TGF-β Ligands in Keratoconus

Effect of Cycloplegia on Keratometric and Biometric Parameters in Keratoconus

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