Keratoconus 4

For a phenotypic description and a discussion of heterogeneity of keratoconus, see 148300.

Mapping

Hutchings et al. (2005) performed genomewide linkage analysis in 28 families with keratoconus recruited in France, Spain, and Guadeloupe (West Indies), representing a mixed, outbred population (Caucasian, Arab, and Caribbean African). They found evidence of linkage on chromosome 2p24 with a maximum lod score of 3.26 at D2S305; multipoint parametric analysis under a dominant model yielded a heterogeneity lod score of 5.13 (alpha = 0.52) at marker D2S320. Analysis of key recombination events placed the keratoconus locus in a 1.69-Mb region flanked by markers D2S305 and D2S2373.