Disease severity and family history in keratoconus

Szczotka-Flynn, Loretta; Slaughter, Mary Ellen; McMahon, Timothy T.; Barr, Joseph T.; Edrington, Timothy B.; Fink, Barbara A.; Lass, Jonathan H.; Mw, Belin; Iyengar, Sudha K.

doi:10.1136/bjo.2007.130294

Cited by 43 publications

(35 citation statements)

References 27 publications

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“…The genetic link in keratoconus is well known, but a family history is not linked to its severity. 60 Myopia has a generic link, but this does not influence progression. 61 Atopy is also a hereditary condition 62 as are corneal dystrophies 63 and dry eye has some family history association.…”

Section: Failure To Replace Lenses When Scheduledmentioning

confidence: 99%

History and symptom taking in contact lens fitting and aftercare

Wolffsohn

Naroo

Christie

et al. 2015

Contact Lens and Anterior Eye

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This is the accepted version of the paper.This version of the publication may differ from the final published version. Abstract Aim: To appraise history and symptom taking for contact lens consultations, to determine current practice and to make recommendations for best practice. Permanent repository link Method:The peer reviewed academic literature was reviewed and the results informed a survey completed by 256 eye care practitioners (ECPs) on their current practice and influences. Results:The last eye-test date, last contact lens aftercare (for existing wearers) and reason for visit are key questions for most ECPs. Detailed use of contact lens questions are more commonly applied in aftercares than when refitting patients who have previously discontinued wear (87% vs 56% use), whereas questions on ocular and general history, medication and lifestyle were generally more commonly utilised for new patients than in aftercares (72% vs 50%). 75% requested patients bring a list of their medication to appointments. Differential diagnosis questioning was thorough in most ECPs (87% of relevant questions asked). Attempts to optimise compliance included oral instruction (95% always) and written patient instructions (95% at least sometimes). Abbreviations were used by 39% of respondents (26% used ones provided by a professional body). Conclusion:There is scope for more consistency in history and symptom taking for contact lens consultations and recommendations are made.

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Section: Failure To Replace Lenses When Scheduledmentioning

confidence: 99%

History and symptom taking in contact lens fitting and aftercare

Wolffsohn

Naroo

Christie

et al. 2015

Contact Lens and Anterior Eye

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“…44,45 Although the majority of cases of KC are sporadic, reports of familial cases of KC are also common and aggregation of the disease in families is often observed. 46 The prevalence of KC in first degree relatives of index cases has been estimated to be 3.34%, notably higher than that in the general population. 47 Concordance is also high among monozygotic twins and a greater similarity of phenotype is observed in monozygotic twin pairs implying that genetic factors are likely to have a key role in the disease phenotype.…”

Section: Geneticsmentioning

confidence: 99%

“…60,[62][63][64] Other candidate genes screened in KC cohorts include TIMP3, 65 TGFBI, 66,67 ZEB1, 68 FLG 69 and several collagen genes. 46,70,71 Despite these efforts, potentially pathogenic variants have only been identified in a very small number of individuals with KC.…”

Section: Geneticsmentioning

confidence: 99%

The pathogenesis of keratoconus

Davidson¹,

Hayes

Hardcastle³

et al. 2013

Eye

285

200

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Keratoconus (KC) is a common degenerative condition that frequently results in visual loss with an onset typically in early adulthood. It is the single most common reason for keratoplasty in the developed world. The cause and underlying pathological mechanism are unknown, but both environmental and genetic factors are thought to contribute to the development of the disease. Various strategies have been employed to address the gap in our understanding of this complex disease, with the expectation that over time more sophisticated therapies will be developed. In this review we summarise our current knowledge of the aetiology and risk factors associated with KC.

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“…10 In the same group, SzcotzkaFlynn et al concluded that presence or absence of family history is not associated with more severe clinical disease, however they found Caucasian ethnic group along with other risk factors could display higher prevalence of keraotconus in patient's family members. 19 In a study, conducted in Iran 300 eyes from 150 relatives of 45 patients with keratoconus. Of them, keratoconus was diagnosed in 14% and another 7.3% were considered suspicious of keratoconus.…”

Section: Discussionmentioning

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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Disease severity and family history in keratoconus

Cited by 43 publications

References 27 publications

History and symptom taking in contact lens fitting and aftercare

History and symptom taking in contact lens fitting and aftercare

The pathogenesis of keratoconus

Topographical Irregularity and Keratoconic Findings in Five Siblings and their Parents

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