Videokeratographic anomalies in familial keratoconus

Levy, Doron; Hutchings, Helen; Rouland, J.F.; Güell, José L.; Burillon, C.; Arné, J L; Colin, Joseph; Laroche, L.; Montard, M; Delbosc, B.; Aptel, Isabelle; Ginisty, Hervé; Grandjean, Hélène; Malecaze, François

doi:10.1016/j.ophtha.2003.12.024

Cited by 88 publications

(74 citation statements)

References 15 publications

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“…Despite diagnosis of keratoconus was not confirmed, and despite having good distance visual acuity, except in one eye due to a past episode of central vein occlusion, the mother showed atypical topographies (smile shape) in both eyes. Similar topographical patterns in members of the same family of patients with keratoconus were reported by Levy et al 16 It's also of relevance that the more advanced cases were found in the two brothers; however, being the older ones, age could also play a role on this regard. The qualitatively and quantitative almost symmetrical presentation of the disease in both corneas of brother #5 is also remarkable.…”

Section: Topographical Irregularity and Keratoconic Findings In Five supporting

confidence: 82%

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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Section: Topographical Irregularity and Keratoconic Findings In Five supporting

confidence: 82%

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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“…Some studies reveal the presence of topographic patterns compatible with keratoconus in family members of patients diagnosed with keratoconus, as well as in the fellow eyes of patients in whom keratoconus has been clinically diagnosed. [89][90][91] Therefore, new diagnostic criteria based on parameters obtained from different clinical examinations, not only analysis of the anterior corneal surface, are necessary, especially when the most incipient cases are to be detected. Recent research on keratoconus is focused on this aim, attempting to find multiple models for predicting the presence of the ectasia.…”

Section: Integral Analysis Of Corneal Structurementioning

confidence: 99%

Characterization of corneal structure in keratoconus

Piñero¹,

Nieto²,

López-Miguel³

2012

Journal of Cataract and Refractive Surgery

142

113

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“…The asymmetric bowtie pattern is overrepresented in fellow eyes and relative eyes of keratoconus, but also occurs in normal eyes. 33 Third, it is difficult for these topography-based methods to distinguish keratoconus from contact lens-induced warpage, 34 subepithelial deposits or scarring, uneven tear film, lid artifact, or other causes of corneal distortion. 35 These causes of topographic distortion may cause a false-positive diagnosis of keratoconus or mask a true diagnosis of keratoconus.…”

Section: Discussionmentioning

confidence: 99%

Keratokonus ve Subklinik Keratokonusun Tespit Edilmesi için Pentacamla Korneal Hacim Ölçümleri

Çağıl¹,

Uğurlu²,

Çakmak³

et al. 2013

Tjo

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Sum maryPur po se: To estimate the sensitivity and specificity of corneal volume (CV) measurements in discriminating keratoconus and subclinical keratoconus from normal corneas. Ma te ri al and Met hod: Clinical records and Pentacam measurements of ninety-four patients with keratoconus, 36 patients with subclinical keratoconus, and 166 refractive surgery candidates with normal corneas were evaluated retrospectively. CV within 3, 5, 7, and 10 mm circles around the central cornea was measured in one eye of each patient, using the Pentacam. CV measurements in keratoconus and subclinical keratoconus were compared with normal corneas. Receiver operating characteristic (ROC) curves were used to determine the test's overall predictive accuracy and to identify optimal CV cutoff points to maximize sensitivity and specificity in discriminating keratoconus and subclinical keratoconus from normal corneas. Re sults: Mean CV within a 3.0 mm circle around the central cornea was statistically lower in keratoconus (3.4±0.2 mm 3 , p<0.001) and subclinical keratoconus (3.6±0.2mm 3 , p<0.001) versus normal corneas (3.8±0.3mm 3 ). ROC curve analysis showed high overall predictive accuracy of CV for keratoconus (area under the curve 0.92). Optimal cutoff points were 3.55 mm 3 for keratoconus and 3.65 mm 3 for subclinical keratoconus. These values provided sensitivity and specificity of 83% and 86%, respectively, for keratoconus, and 61% and 74% for subclinical keratoconus. Dis cus si on: CV within a 3.0 mm circle around the central cornea effectively discriminates keratoconus from normal corneas. However, its sensitivity and specificity are lower for subclinical keratoconus diagnosis. (Turk J Ophthalmol 2013; 43: 77-82) Key Words: Corneal volume, keratoconus, pentacam, subclinical keratoconus Özet Amaç: Kornea hacmi (KH) ölçümlerinin keratokonus ve subklinik keratokonusu normal kornealardan ayırt etmedeki duyarlılık ve özgünlüğünün tespit edilmesi. Ge reç ve Yön tem: Doksan dört keratokonus hastası, 36 subklinik keratokonuslu hasta ve 166 refraktif cerrahi adayının klinik kayıtları ve Pentacam ölçümleri retrospektif olarak incelendi. Pentacam kullanarak her hastanın santral kornea etrafındaki 3, 5, 7 ve 10 mm lik dairelerdeki KH'sı ölçüldü. Keratokonus ve subklinik keratokonustaki KH ölçümleri normal kornealarla karşılaştırıldı. Testin tüm tahmini doğruluğunu test etmek ve keratokonus ve subklinik keratokonusu normal kornealardan ayırt etmekte duyarlılık ve özgünlüğü maksimuma çıkaran optimal kesim noktalarının tanımlamak için ROC (Receiver operating characteristic) eğrileri kullanıldı. Sonuçlar: Santral kornea etrafındaki 3,0 mm'lik dairedeki KH; keratokonusta (3,4±0,2mm 3 , p<0,001) ve subklinik keratokonusta (3,6±0,2mm 3 , p<0,001) normal kornealara gore (3,8±0,3 mm 3 ) istatistiksel olarak düşüktü. ROC eğrisi analizi KH'nın keratokonus için yüksek toplam tahmini doğruluğunu gösterdi ( eğri altında kalan alan 0,92). Optimal kesim noktaları keratokonus için 3,55 mm 3 , subklinik keratokonus için ise 3,65 mm 3 idi. Bu değerler, kera...

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Videokeratographic anomalies in familial keratoconus

Cited by 88 publications

References 15 publications

Topographical Irregularity and Keratoconic Findings in Five Siblings and their Parents

Topographical Irregularity and Keratoconic Findings in Five Siblings and their Parents

Characterization of corneal structure in keratoconus

Keratokonus ve Subklinik Keratokonusun Tespit Edilmesi için Pentacamla Korneal Hacim Ölçümleri

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