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Corneal changes in cutis laxa syndrome

Poster Details

First Author: C.Plaza-Laguardia SPAIN

Co Author(s):    J. Sanchez-Cañizal   A. Mateos-Hernandez   L. Monje-Fernandez   I. Garzo-Garcia   L. Santana-Garcia   M. Franco-Benito     

Abstract Details


To describe the corneal morphological and biometric changes associated with the cutis laxa syndrome.


Complejo Asistencial Universitario de León (Spain).


Case report of a 27-year-old woman, diagnosed of cutis laxa syndrome, with corneal morphological changes not described in the syndromic features of the disease.


A 27-year-old woman diagnosed of cutis laxa syndrome confirmed by biopsy. Among her systemic findings: prolapse of mitral leaflets, joint laxity, pterygoid appearance and instability with frequent falls. Her grandmother had a similar phenotype and alterations. The corneal tomography shows a bilateral corneal thinning with a minimum pachymetry of 429μm and 446μm in OD and OS respectively. Both eyes present medium keratometry of 41,5D with regular astigmatism. The lower refractive power of this oblate cornea does not translate into farsightedness, and this is due to the large axial length of both eyeballs (26.70mm OD/ 25.42mm OS).


Cutis laxa is a heterogeneous group of connective tissue diseases, characterized by the presence of significant laxity with abundant skin and flaccid folds. This entity can affect several organs with abnormalities of the heart valves, hernias or gastrointestinal diverticula. Ophthalmologically, corneal opacity can occur in its autosomal recessive type II form. Despite not having been described in the cutis laxa syndrome, the finding of corneal thinning associated with myopia, due to anteroposterior elongation of the eyeball, is frequent in patients with other connective tissue diseases such as Marfan syndrome, in which we find flat keratometries, thin pachymetries and regular astigmatism.

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