The genetics of keratoconus

@article{Edwards2001TheGO,
  title={The genetics of keratoconus},
  author={Matthew Edwards and Charles N J McGhee and Simon J Dean},
  journal={Clinical \& Experimental Ophthalmology},
  year={2001},
  volume={29}
}
Keratoconus is a relatively common, bilateral, non‐ inflammatory corneal ectasia. The aetiology of this condition is probably multifactorial, or it represents the final common pathway for a variety of different pathological processes. Although a familial history is present only in a minority of cases, one of the major aetiological factors is certainly genetic. This is evidenced by: the condition's familial inheritance; its discordance between monozygotic and dizygotic twins; and its association… Expand

Paper Mentions

Interventional Clinical Trial
Evaluation of tomographic (Pentacam) parameters and genetic parameters of Visual System Homeobox 1 (VSX1), Superoxide Dismutase (SOD1), Tissue Inhibitors of Metalloproteinases… Expand
ConditionsKeratoconus, Keratoconus, Unspecified, Bilateral
InterventionOther
Interventional Clinical Trial
The purpose of this study is to associate the use of botulinum toxin type A for patients with keratoconus to demonstrate that tension eyelid has an important role in disease progression… Expand
ConditionsKeratoconus
InterventionDrug, Procedure
Insights into keratoconus from a genetic perspective
TLDR
These gene identifications are beginning to reveal the molecular aetiology of keratoconus but despite this recent progress, there remain numerous genetic risk factors to be identified for this relatively common yet complex disease. Expand
Molecular Genetics of Keratoconus: Clinical Implications
TLDR
Keratoconus is a major cause of cornea transplantation and is potentially blinding, and currently collagen cross-linking provides effective treatment although responses from some patients can be unpredictable with complications. Expand
The Enigma of Environmental Factors in Keratoconus.
TLDR
The associations of keratoconus with UV exposure, cigarette smoking, personality, and sex were less convincing once confounding factors were considered, and future studies powered for multivariate analysis of factors discussed will hopefully shed light on what is truly important in the development and progression of ker atoconus. Expand
Heredity of Keratoconus
TLDR
The clinical variability and evidence that keratoconus is linked to multiple chromosomal regions is consistent with an oligogenic or even polygenic model, and a genetic model in which mutations in several different genes involved in common pathways cause keratconus is most likely. Expand
Epidemiology of Keratoconus
TLDR
It is now accepted that truly unilateral keratoconus does not exist, although it may present unilaterally in the context of asymmetric environmental factors, such as eye rubbing. Expand
Genetic and genomic perspective to understand the molecular pathogenesis of keratoconus
TLDR
The focus of this review is to provide a concise update on the current knowledge of the genetic basis of KC and genomic approaches to understand the disease pathogenesis. Expand
A molecular perspective on corneal dystrophies.
TLDR
The understanding of corneal dystrophies is undergoing somewhat of a revolution as over 12 chromosomes have been associated with corneals with mutations identified in at least 14 genes if one includes anterior segment dysgenesis in this group of conditions. Expand
The Proteins of Keratoconus: a Literature Review Exploring Their Contribution to the Pathophysiology of the Disease
TLDR
Emerging evidence has improved the understanding of the molecular characteristics of KC and could further improve the success rate of CXL therapies, with greater weight placed on more recently published evidence. Expand
Keratoconus: an inflammatory disorder?
TLDR
A literature review of published biochemical changes in keratoconus would support that this could be, at least in part, an inflammatory condition. Expand
Keratoconus in Asia
TLDR
There are no potent therapies available that treat, cure, or arrest the progression of keratoconus disease except surgical intervention or crosslinking procedures, and the Mendelian inheritance patterns suggest the role of genetics in this disease. Expand
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References

SHOWING 1-10 OF 101 REFERENCES
Genetic epidemiological study of keratoconus: evidence for major gene determination.
TLDR
Strong evidence of familial aggregation is observed in KC and its subclinical indices and this aggregation is likely due to a major gene effect. Expand
[Genetic aspects of keratoconus (author's transl)].
TLDR
The assumption of a multifactorial inheritance is supported by the occurrence of keratoconus in connection with various syndromes, as well as the fact that keratconus does not only express itself in sharply defined stages, but also occurs in all possible degrees, from almost normal to the extreme. Expand
[Autosomal dominant keratoconus as the chief ocular symptom in Lobstein osteogenesis imperfecta tarda].
TLDR
With the use of computer-assisted corneal topography analysis, a keratoconus was shown associated with osteogenesis imperfecta in a family of 6 patients, where there was no more progression of refractive changes after adolescence. Expand
Keratoconus and coexisting atopic disease.
TLDR
It is found that atopic traits are more common in patients with keratoconus than in general ophthalmic patients and markedly so in those cases with associated atopic disease. Expand
Autosomal dominanter Keratokonus als okuläres Leitsymptom bei Osteogenesis imperfecta tarda Lobstein
TLDR
Compared to the normal progression of keratoconus in this family there was no more progression of refractive changes after adolescence, and with the use of computer-assisted corneal topography analysis analysis a keratconus associated with osteogenesis imperfecta was shown. Expand
Clinical and epidemiological features of keratoconus genetic and external factors in the pathogenesis of the disease.
TLDR
The clinical and epidemiological features of keratoconus were studied in a series comprising all the 212 KC patients treated at Oulu University Central Hospital from 1964 to 1984, finding the disease to be characterized by incomplete penetrance and variable expressivity. Expand
MONGOLISM (DOWN'S SYNDROME) AND KERATOCONUS*†
TLDR
Mongolism has been shown to give rise to different clinical syndromes such as gonadal dysgenesis or Turner's syndrome, where the total chromosome number is 45 (XO), and also to Klinefelter's syndrome (XXY) and the Triple X or superfemale syndrome (XXX), in both of which 47 chromosomes have been found. Expand
Atopy and keratoconus: a multivariate analysis
TLDR
This study supports the hypothesis that the most significant cause of keratoconus is eye rubbing and may contribute to atopy but most probably via eye rubbing associated with the itch of atopy. Expand
Computer-assisted corneal topography in family members of patients with keratoconus.
TLDR
A computer-assisted digital videophotokeratoscope was used to map the corneas of 28 family members of 5 patients with keratoconus and abnormalities observed in family members included central steepening, greater steepening of the cornea inferior to the apex, and substantial asymmetry in the central dioptric power between the two eyes of the same individual. Expand
Leber congenital amaurosis and its association with keratoconus and keratoglobus.
  • M. Elder
  • Medicine
  • Journal of pediatric ophthalmology and strabismus
  • 1994
TLDR
Keratoconus seems specifically associated with Leber amaurosis, probably due to genetic factors, rather than poor visual acuity per se. Expand
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