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Master Thesis

Afrik : Analyse familiale du risque de kératocone

Abstract : Purpose. To assess the keratoconus (KC) prevalence among close relatives of affected subjects. Design. Large epidemiological, prospective and observational cohort. Methods: Setting: The study took place in the French Keratoconus National Reference Centre, in Bordeaux. Study Population: Ninety-four unrelated patients with KC and at least 2 close relatives assessable; 221 close relatives. Observation Procedures. Each patient had a thorough ocular examination including visual acuity, refraction, slit lamp biomicroscopy, indirect ophthalmoscopy, keratometry, corneal topography (Topographic Modelling System (Tomey Corporation, Japan) and Galilei V6 (Ziemer, Switzerland)), pachymetry and biomechanical properties of cornea (Ocular Response Analyzer (Reicherts, USA)). Additional data have been collected about atopy, smoking, and eye-rubbing habits. Main Outcome Measures: Keratoconus prevalence, multivariate analysis, and familial correlation analysis have been studied. Results. Of the 221 relatives, 9.05% (n=20) had a clinical manifest KC and 15.4% (n=31) had a subclinical KC. The prevalence of KC was estimated equal to 0.14 (0.07; 0.22 (CI 95%)) among parents, 0.03 (0; 0.10 (CI 95%)) among offspring, and 0.10 (0.04; 0.20 (CI 95%)) among siblings. In multivariable analysis, age and eye-rubbing were associated with an increased risk of KC. The familial correlation of KC among probands’ close relatives was estimated at 0.55 among parents, 0.29 among offspring and 0.49 among siblings. Conclusion. Being a close relative of a KC subject remains a risk factor of developing KC. This should be taken into account for KC screening in paediatric population, in family members of KC patients and for refractive surgery candidates.
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https://dumas.ccsd.cnrs.fr/dumas-02434257
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Gabrielle Lapeyre. Afrik : Analyse familiale du risque de kératocone. Sciences du Vivant [q-bio]. 2019. ⟨dumas-02434257⟩

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