Concomitant Keratoconus and Macular Corneal Dystrophy

Javadi,; Reza, Baradaran Rafiei Ali; Kamalian, Naser; Karimian, Farid; Jafarinasab, M R; Yazdani, Shahin

doi:10.1097/01.ico.0000114124.63670.dd

Cited by 26 publications

(21 citation statements)

References 20 publications

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“…14 Given our current lack of knowledge of the cause of keratoconus, it is important to determine whether there is any potential involvement of the CHST6 gene or associated pathways. Interestingly, concurrent keratoconus and MCD has been previously described in five cases, [15][16][17][18] and one of the linked loci for keratoconus (16q22.3-q23.1) contains the CHST6 gene. 19 When we used the Pentacam Scheimpflug system to evaluate anterior corneal surface parameters in cases with MCD, there was a pattern suggestive of keratoconus in all six eyes that were examined.…”

Section: Discussionmentioning

confidence: 99%

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%

Macular corneal dystrophy and associated corneal thinning

Ďuďáková

Palos

Svobodová

et al. 2014

Eye

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“…[5] In such a combination (as in our patient), keratoconus could play an additive role for vision reduction. This should be kept in mind in the cases of macular corneal dystrophies with visual deterioration that can not be explained by the amount of corneal stromal deposits and haze.…”

Section: Discussionmentioning

confidence: 85%

Bilateral coexistence of keratoconus and macular corneal dystrophy

Al-Hamdan¹,

Al-Mutairi²,

Al-Adwani³

et al. 2009

Oman J Ophthalmol

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Bilateral coexistence of keratoconus and macular corneal dystrophy is a very rare clinical entity. Further elaboration on the possible genetic, histopathologic, pathophysiologic and biochemical correlation is required to study the nature of the condition.The authors hereby report a 21-year-old female who presented with the typical signs and topographic evidence of keratoconus in association with macular corneal dystrophy. Histopathologic evaluation from the excised corneal button after corneal transplant confirmed the diagnosis.To our knowledge, there is only one previous report in the literature linking the association of keratoconus and macular corneal dystrophy in the same eye bilaterally.

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“…Macular dystrophy (MCD) is among the three classic corneal stromal dystrophies but is less common than granular dystrophy or lattice dystrophy. However, there have been reports of higher prevalence of MCD in some regions 4. MCD is characterized by a cloudy, dense stroma with gray-white spots.…”

Section: Discussionmentioning

confidence: 99%

“…The etiology remains unclear but is likely multifactorial, and the pathogenesis is characterized by an area of protrusion associated with loss of stromal substance. Histopathologic changes include fragmentation of Bowman's layer, stromal and epithelial thinning, folding or rupture of Descemet's membrane and a variable amount of scarring, especially in the anterior stroma; with normal endothelium 34…”

Section: Discussionmentioning

confidence: 99%

Concurrent macular corneal dystrophy and keratoconus

Mohammad-Rabei

Shojaei

Mehdi

2012

Middle East Afr J Ophthalmol

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A 21-year-old female presented with progressive bilateral visual loss for the past 8 years. The patient had no history of systemic disease, surgery or medications. Complete ophthalmologic examination and topography were performed. On ophthalmic examination, uncorrected visual acuity was counting fingers at 2.5 m (20/50 with pinhole) in the right and left eyes. Both corneas appeared hazy on gross examination. On slit-lamp biomicroscopy, focal grayish-white opacities with indistinct borders were noted in the superficial and deep corneal stroma of both eyes. Both corneas were thin and bulging. Corneal topography showed a pattern consistent with keratoconus. The patient underwent penetrating keratoplasty (PKP). Histopathologic studies after PKP confirmed the diagnosis of macular corneal dystrophy and keratoconus in the same eye. The patient was clinically diagnosed as a case of concurrent macular dystrophy and keratoconus, which is a very rare presentation.

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Concomitant Keratoconus and Macular Corneal Dystrophy

Abstract: To our knowledge, this is the first report of such a concurrence in the English literature and could lead to further studies on the possible pathophysiologic or genetic link between these 2 entities.

Cited by 26 publications

References 20 publications

Macular corneal dystrophy and associated corneal thinning

Macular corneal dystrophy and associated corneal thinning

Bilateral coexistence of keratoconus and macular corneal dystrophy

Concurrent macular corneal dystrophy and keratoconus

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