Methods of treating macular corneal dystrophy

A vector, comprising a nucleic acid molecule encoding a corneal N-acetylglucosamine-6-sulfotransferase (GlcNAc6ST), wherein said GlcNAc6ST or active fragment thereof catalyzes sulfation of keratan sulfate.

An oligonucleotide, comprising a nucleotide sequence having at least 10 contiguous nucleotides of a nucleic acid molecule selected from the group consisting of SEQ ID NO:

• 1 and SEQ ID NO:
• _, or a nucleotide sequence complementary thereto, provided that the oligonucleotide sequence does not consist of a sequence of GenBank accession number AI824100.

An isolated polypeptide, comprising an amino acid sequence encoding a corneal N-acetylglucosamine-6-sulfotransferase (GlcNAc6ST) or active fragment thereof, wherein said GlcNAc6ST or active fragment thereof catalyzes sulfation of keratan sulfate.

Substantially purified antibody material that specifically binds a corneal N-acetylglucosamine-6-sulfotransferase (GlcNAc6ST), wherein said GlcNAc6ST catalyzes sulfation of keratan sulfate.

A method of treating a subject with macular corneal dystrophy, comprising administering to said subject an effective amount of an agent that increases expression or activity of a N-acetylglucosamine-6-sulfotransferase (GlcNAc6ST), whereby the amount of sulfated keratan sulfate in the cornea of said subject is elevated.

A method of treating a subject with macular corneal dystrophy, comprising the steps of:

• (a) administering in vitro to primary, explanted corneal cells an effective amount of an agent that increases expression or activity of a N-acetylglucosamine-6-sulfotransferase;
• and
• (b) introducing said cells into the cornea of said subject, whereby the amount of sulfated keratan sulfate in the cornea of said subject is elevated.

A method of determining susceptibility to macular corneal dystrophy (MCD) in an individual, comprising determining the presence or absence in an individual of a MCD-associated allele linked to a corneal N-acetylglucosamine-6-sulfotransferase locus, wherein the presence of said MCD-associated allele indicates susceptibility to MCD in said individual.