Keratoglobus in Association With Posterior Polymorphous Dystrophy

Harissi‐Dagher, Mona; Dana, M. Reza; Jurkunas, Ula V.

doi:10.1097/ico.0b013e3181557692

Cited by 20 publications

(8 citation statements)

References 18 publications

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“…Case reports of keratoglobus with syphilis, a post-traumatic case and posterior polymorphous dystrophy have also been described in the literature. 18,21 Clinical findings…”

Section: Aetiological Factorsmentioning

confidence: 99%

“…19 Another case report of keratoglobus in association with posterior polymorphous dystrophy showed Orbscan findings of generalised steepening of both anterior and posterior curvatures, with irregular astigmatism and asymmetric bow tie pattern. 21 Systemic evaluation might point towards connective tissue disorder. These include features mentioned earlier of blue sclera, joint hypermobility, skeletal abnormalities, hearing loss, abnormal dentition, high-arched palate, as well as other features specific to each syndrome.…”

Section: Aetiological Factorsmentioning

confidence: 99%

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Keratoglobus

Wallang

Das²

2013

Eye

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Keratoglobus is a rare noninflammatory corneal thinning disorder characterised by generalised thinning and globular protrusion of the cornea. It was first described as a separate clinical entity by Verrey in 1947. Both congenital and acquired forms have been shown to occur, and may be associated with various other ocular and systemic syndromes including the connective tissue disorders. Similarities have been found with other noninflammatory thinning disorders like keratoconus that has given rise to hypotheses about the aetiopathogenesis. However, the exact genetics and pathogenesis are still unclear. Clinical presentation is characterised by progressive diminution resulting from irregular corneal topography with increased corneal fragility due to extreme thinning. Conservative and surgical management for visual rehabilitation and improved tectonic stability have been described, but remains challenging. In the absence of a definitive standard procedure for management of this disorder, various surgical procedures have been attempted in order to overcome the difficulties. This article reviews the aetiological factors, differential diagnosis, histopathology, and management options of keratoglobus.

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“…Case reports of keratoglobus with syphilis, a post-traumatic case and posterior polymorphous dystrophy have also been described in the literature. 18,21 Clinical findings…”

Section: Aetiological Factorsmentioning

confidence: 99%

Section: Aetiological Factorsmentioning

confidence: 99%

Keratoglobus

Wallang

Das²

2013

Eye

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“…A comparable combination has been reported for a human patient with keratoglobus with posterior polymorphous dystrophy. 24 The Aca23 phenotype described in this study resembles ocular pathologies of a Col8a2/Col8a1 null mutant, which was also reported to develop keratoglobus-like protrusions and irregularly thin corneal stromas and Descemet's membranes. 46 Stromal thinning was suggested to be initiated by an abnormal migration of precursor cells during corneal development because of the lacking collagen VIII ␣1 and ␣2.…”

Section: Discussionmentioning

confidence: 60%

Reduced Corneal Thickness and Enlarged Anterior Chamber in a Novel ColVIIIa2^G257DMutant Mouse

Puk

Dalke

Calzada‐Wack³

et al. 2009

Invest. Ophthalmol. Vis. Sci.

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“…We recently identified a mutation in the seed region of miR-184 as causal in EDICT, a syndrome of the anterior segment characterized by endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning, which was first described by our group 10 years ago. 2,3 The same mutation was also identified by Hughes et al 4 as the causal variant in what they described as keratoconus with cataract. Giasin et al raised the question of whether the corneal phenotype in EDICT syndrome should be classified within the keratoconus/keratoglobus spectrum.…”

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confidence: 76%

Corneal Thinning Phenotypes—An Alternative Perspective

Giasin

Khan

2012

Invest. Ophthalmol. Vis. Sci.

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We were very interested to read of a second mutation in the seed region of miR-184 resulting in EDICT syndrome. 1 We were unsure after reading the paper, however, of how the corneal findings should be classified and of the statement that the family "does not demonstrate a keratoconus phenotype." Keratoconus, the commonest disorder of corneal thinning and steepening, has been linked with VSX1 and SOD1 in single studies and up to 14 different genetic loci.2 It has a variable phenotype, and while few would dispute the diagnosis in classic cases with central corneal thinning, identifying variants such as forme fruste disease (where a cone may not be present) may be more challenging. A less common disorder of corneal thinning is keratoglobus, in which the thinning is global and often most pronounced in the periphery. Iris hypoplasia with keratoglobus has been described. 3 Similarly, the occurrence of keratoglobus with a corneal endothelial disease, posterior polymorphous corneal dystrophy, has also been recognized.

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Keratoglobus in Association With Posterior Polymorphous Dystrophy

Abstract: We report the first case with clinical features of both keratoglobus and PPMD. This report brings forth the description of keratoglobus findings on Orbscan topography.

Cited by 20 publications

References 18 publications

Keratoglobus

Keratoglobus

Reduced Corneal Thickness and Enlarged Anterior Chamber in a Novel ColVIIIa2^G257DMutant Mouse

Corneal Thinning Phenotypes—An Alternative Perspective

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Keratoglobus in Association With Posterior Polymorphous Dystrophy

Abstract: We report the first case with clinical features of both keratoglobus and PPMD. This report brings forth the description of keratoglobus findings on Orbscan topography.

Cited by 20 publications

References 18 publications

Keratoglobus

Keratoglobus

Reduced Corneal Thickness and Enlarged Anterior Chamber in a Novel ColVIIIa2G257DMutant Mouse

Corneal Thinning Phenotypes—An Alternative Perspective

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Product

Resources

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Reduced Corneal Thickness and Enlarged Anterior Chamber in a Novel ColVIIIa2^G257DMutant Mouse