Genetics of Keratoconus: Where Do We Stand?

Table 1

Loci identified in keratoconus patients by linkage analysis and identity-by-descent approach.

Locus	LOD score	Candidate genes excluded^‡	Population	Reference
1p36, 8q13-q21	3.4	ENO1, CTNNBIP1, PLOD1, UBIAD1, SPSB1, and TCEB1	Australian	[18]
2p24	5.13	—	Caucasian and Arab	[40]
3p14-q13	3.09	COL8A1	Italian	[43]
4q, 5q, 12p, and 14q (suggestive)	—	—	Caucasian and Hispanic	[41]
5q14.1-q21.3	3.53	—	Americans	[39]
5q21, 5q32-q33, and 14q11 (suggestive)	—	—	Italian	[24]
9p34	4.5	—	Caucasian and Hispanic	[41]
14q24.3	3.58	VSX2	Mixed	[42]
16q22-q23	4.1	—	Finnish	[23]
20q12^†	—	MMP9	Australian (UK descent)	[38]

Mapped using identity-by-descent approach.
No mutations were found in these screened candidate genes.