Keratoconus Associated With Other Corneal Dystrophies

Cremona, Federico Andrés; Ghosheh, Faris R.; Rapuano, Christopher J.; Eagle, Ralph C.; Hammersmith, K.M.; Laibson, Peter R.; Ayres, Brandon D.; Cohen, Elisabeth J.

doi:10.1097/ico.0b013e3181859935

Cited by 46 publications

(44 citation statements)

References 32 publications

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“…6 Regular corneal astigmatism and corneal thinning are characteristic features of MCD. 2 Corneal astigmatism and corneal thinning are also features of keratoconus, and in this respect the phenotype of the two conditions is similar.…”

Section: Discussionmentioning

confidence: 99%

“…4,5 Corneal ectasia and thinning, hallmarks of keratoconus, have also been reported in patients with other corneal dystrophies, which has prompted a debate as to whether there could be a common etiology in some affected individuals. 6,7 We therefore screened CHST6 for mutations in patients diagnosed with MCD and used Scheimpflug imaging to look for features of keratoconus. Excised corneal buttons were examined when available.…”

Section: Introductionmentioning

confidence: 99%

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Macular corneal dystrophy and associated corneal thinning

Ďuďáková

Palos

Svobodová

et al. 2014

Eye

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Purpose To identify the molecular genetic cause of macular corneal dystrophy (MCD) in four probands, and characterize phenotypic similarities between MCD and keratoconus. Methods We performed ophthalmological examination, Scheimpflug imaging (Pentacam, Oculus Inc.), histopathological examination of excised corneal buttons, and direct sequencing of the CHST6 coding region. Results Pentacam measurements were taken in six eyes of three probands. All showed diffuse corneal thinning with paracentral steepening of the anterior corneal surface that was graded as keratoconus by the integrated software, but without associated ectasia of the posterior corneal surface or regional thinning. Homozygous or compound heterozygous CHST6 mutations were identified in all cases, including two novel mutations, c.13C4T; p.(Arg5Cys) and c.289C4T; p.(Arg97Cys). Discussion Localized elevation of the anterior corneal curvature can occur in MCD in the absence of other features of keratoconus. The identification of a further two Czech probands with the compound allele c.[484C4G; 599T4G] supports the enrichment of this allele in the study population.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Macular corneal dystrophy and associated corneal thinning

Ďuďáková

Palos

Svobodová

et al. 2014

Eye

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“…Anterior basement membrane dystrophy was seen in a quarter of these patients. Further patients had posterior polymorphous dystrophy and a solitary case had granular dystrophy 1. A report in Cornea in 2002 described a 15-year-old Italian boy with bilateral KC and granular dystrophy 2.…”

Section: Introductionmentioning

confidence: 99%

Keratoconus and granular dystrophy

Wilson¹,

D’Ath

Parmar

et al. 2014

BMJ Case Reports

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SUMMARYConcurrent bilateral keratoconus and granular dystrophy is reported in a 32-year-old patient with decreased vision. Initially contact lenses were attempted unsuccessfully to treat the conditions. There are a handful of other reports of these combined pathologies in the literature, and the likelihood of a chance cause or possible genetic linkage between the conditions is discussed. BACKGROUND

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“…Keratoconus exhibits overlapping pathophysiology with other corneal dystrophies [47]. Although clinically distinct, posterior polymorphous corneal dystrophy (PPCD) has been associated with keratoconus suggesting a common genetic pathway [48].…”

Section: Candidate Gene Analysismentioning

confidence: 99%

Genetics of Keratoconus: Where Do We Stand?

Abu-Amero

Al-Muammar

Kondkar

2014

Journal of Ophthalmology

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Keratoconus is a progressive thinning and anterior protrusion of the cornea that results in steepening and distortion of the cornea, altered refractive powers, and reduced vision. Keratoconus has a complex multifactorial etiology, with environmental, behavioral, and multiple genetic components contributing to the disease pathophysiology. Using genome-wide and candidate gene approaches several genomic loci and genes have been identified that highlight the complex molecular etiology of this disease. The review focuses on current knowledge of these genetic risk factors associated with keratoconus.

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Keratoconus Associated With Other Corneal Dystrophies

Abstract: To our knowledge, this is the largest report of such a concurrence in the English literature and could lead to further studies on the possible pathophysiologic or genetic links between these entities, although a chance association cannot be excluded.

Cited by 46 publications

References 32 publications

Macular corneal dystrophy and associated corneal thinning

Macular corneal dystrophy and associated corneal thinning

Keratoconus and granular dystrophy

Genetics of Keratoconus: Where Do We Stand?

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