Table 1.

Mutations in selected ECM and ECM modulating genes associated with glaucoma in humans.

Gene Name	Glaucoma sub-type (if known)	Other ocular defects	Associated Systemic Disease	References
FBN1	Primary open-angle glaucoma; Pigmentary glaucoma	Ectopia lentis, myopia	Marfan syndrome, Weill-Marchesani syndrome	Kuchtey, 2014; Kuchtey, 2013; Michael, 2012; Zhao, 2012; Faivre, 2003a, 2003b.
LTBP2	Primary congenital glaucoma; Primary open-angle glaucoma; secondary glaucoma; pseudoexfoliation glaucoma			Ali, 2009; Narooia-Nejad, 2009; Desir, 2010; Jelodari-Mamaghani, 2013; Krumbiegel, 2009.
LOXL1	Pseudoexfoliation syndrome/glaucoma			Thorleifsson, 2007; Schlotzer-Schrehardt, 2008, 2012.
ADAMTS10	glaucoma	Ectopia lentis, myopia, spherophakia	Weill-Marchesani syndrome	Morales, 2009
ADAMTS17	glaucoma	Ectopia lentis, myopia, spherophakia	Weill-Marchesani- like syndrome	Morales, 2009
COL2A1	Open-angle glaucoma	Retinal detachment, severe myopia, anterior segment dysgenesis	Stickler syndrome type 1	Tran-Viet, 2013; Snead, 2011
COL8A1	Primary open-angle glaucoma	Thin central corneal thickness		Desronvil, 2010
COL8A2	Primary open-angle glaucoma	Thin central corneal thickness	Fuchs corneal dystrophy	Desronvil, 2010
COL11A1	Primary angle closure glaucoma		Stickler syndrome, Marshall syndrome	Vithana, 2012
COL15A1	Primary open-angle glaucoma			Wiggs, 2013
COL18A1	Primary open-angle glaucoma		Knobloch syndrome	Wiggs, 2013
Versican	Glaucoma neo- vascular glaucoma	Vitreoretinopathy, empty vitreous cavity, retinal detachment, chorioretinal atrophy	Wagner syndrome	Kloeckner-Gruissem, 2006; Miyamoto, 2005; Mukhopadhyay, 2006.
BMP4	Congenital glaucoma	Reigler, microcornea, nystagmus, anophthalmia;	SHORT syndrome, microophthalmia	Reis, 2011.
FGFR2	Glaucoma	microcornea, limbal scleralization, corecoptia	Pfeiffer syndrome	Barry, 2010.