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A locus for autosomal dominant keratoconus maps to human chromosome 3p14–q13

¹ CSS Hospital, IRCCS, San Giovanni Rotondo and CSS-Mendel Institute, Rome, Italy
² Department of Experimental Medicine and Pathology, University "La Sapienza," Rome, Italy
³ Department of Ophthalmology, University "La Sapienza," Rome, Italy
⁴ UO Internal Medicine, POC, Montefiascone, Viterbo, Italy

Correspondence to:
Dr A Pizzuti
CSS. Mendel Institute, Viale Regina Margherita 261, I-00198 Rome, Italy; a.pizzuti@css-mendel.it]

Keywords: keratoconus; linkage; chromosome 3; COL8A1

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

Keratoconus (OMIM148300) is a bilateral, non-inflammatory, slowly progressive, corneal ectasia that is a major cause of corneal transplant. Characteristically, the cornea becomes thin and conical, with myopia and irregular astigmatism that leads to vision impairment. The incidence of keratoconus is between 50 and 230 per 100 000, with remarkable differences between ethnic groups.¹ Although the pathogenesis of keratoconus still is unknown, little doubt exists about an underlying genetic background. A positive family history is found in 6–8% of patients with keratoconus, and concordance is high among monozygotic twins.^1,2 In rare instances, keratoconus is inherited either as a mendelian trait or is associated with a genetic disorder (for example, Down syndrome, Leber’s amaurosis, or connective tissue diseases). For most patients, however, the disease is sporadic.³ The lack of multiple familial cases is a major obstacle to linkage analysis. To date, three loci have been associated with keratoconus, none of them through . . . [Full text of this article]

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