TABLE 1.

Human ocular diseases linked to mutations in SLRP-encoding genes

SNPs, single-nucleotide polymorphisms.

Gene	Mutation	Inheritance	Chromosome	Phenotype
Decorin	Frameshift mutation generating a C-terminally truncated decorin protein core	Autosomal dominant	12	Congenital stromal dystrophy of the cornea: corneal opacities caused by deposition of white fluffy material in the corneal stroma (21)
Lumican, fibromodulin, PRELP, and opticin	Intronic variations, non-synonymous and synonymous changes, SNPs in promoter	Autosomal dominant	1 and 12	High myopia: a common cause of blindness secondary to corneal detachment and choroidal neovascularization (25, 26)
Keratocan	Missense and frameshift mutations generating a single amino acid substitution or a C-terminally truncated keratocan	Autosomal recessive	12	Cornea plana (CNA2): corneal radius of curvature larger than normal, producing high hypermetropia with astigmatism and poor acuity (30)
Nyctalopin	Intragenic deletions, missense mutations, nonsense mutations, and in-frame insertions	X-linked	X	Congenital stationary night blindness with associated myopia, hyperopia, nystagmus, and reduced visual acuity (12, 13)