Apparent autosomal dominant keratoconus in a large Australian pedigree accounted for by digenic inheritance of two novel loci

Burdon, Kathryn P.; Coster, Douglas J.; Charlesworth, Jac; Mills, Richard A.; Laurie, Kate; Giunta, Cecilia; Hewitt, Alex W.; Latimer, Paul; Craig, Jamie E

doi:10.1007/s00439-008-0555-z

Cited by 67 publications

(54 citation statements)

References 24 publications

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“…[42][43][44] Genetics would also explain the apparent autosomal dominant pattern of inheritance found in certain families, the higher prevalence for the disease in families with one affected individual, and the high concordance among monozygotic twins. [45][46][47][48] Burdon et al 48 found a Mendelian inheritance pattern in an Australian family. On the other hand, consanguinity have been associated with a higher risk of development of keratoconus.…”

Section: Geneticsmentioning

confidence: 99%

Keratoconus: an inflammatory disorder?

Galvis

Sherwin

Tello

et al. 2015

Eye

301

199

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Keratoconus has been classically defined as a progressive, non-inflammatory condition, which produces a thinning and steepening of the cornea. Its pathophysiological mechanisms have been investigated for a long time. Both genetic and environmental factors have been associated with the disease. Recent studies have shown a significant role of proteolytic enzymes, cytokines, and free radicals; therefore, although keratoconus does not meet all the classic criteria for an inflammatory disease, the lack of inflammation has been questioned. The majority of studies in the tears of patients with keratoconus have found increased levels of interleukin-6 (IL-6), tumor necrosis factor-α (TNF-α), and matrix metalloproteinase (MMP)-9. Eye rubbing, a proven risk factor for keratoconus, has been also shown recently to increase the tear levels of MMP-13, IL-6, and TNF-α. In the tear fluid of patients with ocular rosacea, IL-1α and MMP-9 have been reported to be significantly elevated, and cases of inferior corneal thinning, resembling keratoconus, have been reported. We performed a literature review of published biochemical changes in keratoconus that would support that this could be, at least in part, an inflammatory condition.

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Section: Geneticsmentioning

confidence: 99%

Keratoconus: an inflammatory disorder?

Galvis

Sherwin

Tello

et al. 2015

Eye

301

199

View full text Add to dashboard Cite

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“…32 Also digenic linkages have been reported in keratoconus, suggesting that more than 1 gene may contribute. 33 All these findings strongly suggest a genetic component to the development of keratoconus.…”

mentioning

confidence: 95%

What Causes Keratoconus?

Sugar

Macsai

2012

Cornea

145

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“…Regarding the genetic etiology of keratoconus, even thought to be present, 11 is not fully understood. Some authors assume that the disease follows an autosomal dominant pattern of transmission in certain types of keratoconus, 12 and some candidate genes have already been identified. …”

Section: 9mentioning

confidence: 99%

Topographical Irregularity and Keratoconic Findings in Five Siblings and their Parents

González-Meijóme¹,

Peixoto-de-Matos²,

Soares³

et al. 2014

International Journal of Keratoconus and Ectatic Corneal Diseases

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Purpose: To report the clinical features of five siblings, four of them with positive diagnostic of keratoconus in different degrees of severity as well as their parents findings. Materials and methods:Seven elements of the same family, five young siblings (2 males, 3 females), and their parents were screened for potential keratoconic signs. Topographic data from 60 normal eyes are also reported for comparison purposes. Complete ophthalmologic examination including biomicroscopic, topographic and refractive examination. Main outcome measures included biomicroscopic findings, refractive error and visual acuity, simulated keratometry, corneal eccentricity, indices of asymmetry and regularity.Results: The more advanced case was present in the left eye of a male member, needing a rigid gas permeable lens to correct irregular astigmatism. Another brother also presented bilateral mild to moderate keratoconus with no apparent vision complaints. The third case diagnosed was one sister with history of monthly disposable soft toric lens to compensate a presumed initially regular astigmatism two years before. The remaining two cases being the older sister and one of the younger sisters presented the less noticeable signs, with confirmation of the pathology only in one of them and warranting a close followup of both due to the asymmetric corneal topography between both eyes as well as between the flatter superior and steeper inferior corneal areas. Conclusion:This is the first reported case series involving diagnosis of keratoconus or atypical corneal topographies in several young siblings and their parents. Further evaluation of this and other cases with similar presentations might help to gain a deeper understanding on the potential genetic paths of keratoconus.

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Apparent autosomal dominant keratoconus in a large Australian pedigree accounted for by digenic inheritance of two novel loci

Cited by 67 publications

References 24 publications

Keratoconus: an inflammatory disorder?

Keratoconus: an inflammatory disorder?

What Causes Keratoconus?

Topographical Irregularity and Keratoconic Findings in Five Siblings and their Parents

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