LETTER TO JMG

Identification of a new locus for isolated familial keratoconus at 2p24

H Hutchings, H Ginisty, M Le Gallo, D Levy, F Stoësser, J F Rouland, J L Arné, M H Lalaux, P Calvas, M P Roth, A Hovnanian, F Malecaze

Department of Functional Genetics of Epithelial Diseases, INSERM U563, CHU Purpan, Place du Dr Baylac, 31059 Toulouse, France

Correspondence to:
Correspondence to:
François Malecaze
INSERM U563, Bâtiment B, CHU Purpan, Place du Dr Baylac, 31059 Toulouse, France; malecaze.fr@chu-toulouse.fr

Received 4 May 2004
Revised version received 19 July 2004

Abbreviations: GDF-7, growth differentiation factor 7; KC, keratoconus

Keywords: chromosome 2p24; cornea; keratoconus; linkage analysis

The first 150 words of the full text of this article appear below.

Keratoconus (KC; MIM 148300) is a non-inflammatory corneal thinning disorder. Progressive thinning and protrusion of the cornea lead to loss of visual acuity for which the only effective treatment is corneal transplantation. The estimated prevalence of KC is 1–4 per 2000 in the general population.¹ The age of onset is often at puberty, and the disorder is progressive until the third or fourth decade of life when it usually arrests. KC is a major cause of corneal transplantation in developed countries.

The cause of KC is still unknown. Histological observations have demonstrated degradation of the corneal epithelium basal membrane, diminution of the number of collagen fibrils, thinning of the corneal stroma, and keratocyte apoptosis.^2,3 Biochemical studies describe increased activity of metalloproteinases (MMP-2 and MMP-9) and lower expression of protease inhibitors such as 1-protease inhibitor.^4,5

Sporadic KC is the most common presentation; however, a positive familial history has been reported . . . [Full text of this article]

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