Diagnosis of glaucoma
AssigneeInstitute National de la Sante et de la Recherche Medicale (INSERM)
InventorHenri-Jean Garchon
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AssigneeInstitute National de la Sante et de la Recherche Medicale (INSERM)
InventorHenri-Jean Garchon
Estimating the term…
Methods are described for assessing an individual's risk for developing early-onset glaucoma, for developing glaucoma with a high intraocular pressure at onset of disease, or for developing glaucoma with a high visual field score and/or a high cup/disk ratio, by assessing the ApoE alleles and/or the ApoE gene promoter alleles of the individual. In individuals carrying mutations in the TIGR gene, the presence of an ApoE4 allele is indicative of an increased risk of developing early-onset glaucoma. In individuals carrying mutations in the TIGR gene promoter, the presence of an ApoE4 allele is indicative of a decreased risk of developing glaucoma with a high intraocular pressure at onset of disease. The combination of an ApoE4 allele and a “T” allele of a ApoE gene promoter (at −491) in an individual carrying a mutation in the TIGR gene is also indicative of an increased risk of developing early-onset glaucoma. The presence of a “T” allele of an ApoE gene promoter at (−491), regardless of whether a mutation in the TIGR gene is present or absent, is indicative of an increased risk of developing glaucoma with a high intraocular pressure at onset of disease. The presence of an ApoE(−219G) gene promoter allele is indicative of an increased risk of developing glaucoma with a high visual field score, high cup/disk ratio, or both.
A method of assessing the risk of an individual for developing early-onset glaucoma, comprising assessing the ApoE alleles in the individual, wherein if the individual is a carrier of a TIGR gene mutation, the presence of an ApoE4 allele is indicative of an increased risk of developing early-onset glaucoma, and the absence of any ApoE4 alleles is indicative of a decreased risk of developing early-onset glaucoma.
A method of assessing the risk of an individual for developing glaucoma with a high intraocular pressure at onset of disease, comprising assessing the ApoE alleles in the individual, wherein if the individual is a carrier of a TIGR gene promoter mutation, the presence of an ApoE4 allele is indicative of a decreased risk of developing glaucoma with a high intraocular pressure at onset of disease, and the absence any ApoE4 alleles is indicative of an increased risk of developing glaucoma with a high intraocular pressure at onset of disease.
A method of assessing the risk of an individual for developing early-onset glaucoma, comprising assessing the alleles of the ApoE gene promoter in the individual, wherein if the individual is a carrier of a TIGR gene mutation and has an ApoE4 allele, the presence of a T allele in an ApoE gene promoter is indicative of an increased risk of developing early-onset glaucoma, and the absence of any T alleles in an ApoE gene promoter is indicative of a decreased risk of developing early-onset glaucoma.
A method of assessing the risk of an individual for developing glaucoma with a high intraocular pressure at onset of disease, comprising assessing the alleles of the ApoE gene promoter in the individual, wherein the presence of a T allele in an ApoE gene promoter is indicative of an increased risk of developing glaucoma with a high intraocular pressure at onset of disease, and the absence of any T alleles in an ApoE gene promoter is indicative of a decreased risk of developing glaucoma with a high intraocular pressure at onset of disease.
A method of assessing the risk of an individual for developing glaucoma with a high visual field score, a high cup/disk ratio, or both a high visual field score and a high cup/disk ratio, comprising assessing the ApoE gene promoter alleles in the individual, wherein the presence of an ApoE(−219G) gene promoter allele is indicative of an increased risk of developing glaucoma with a high visual field score, high cup/disk ratio, or both a high visual field score and a high cup/disk ratio, and the absence an ApoE(−219G) gene promoter allele is indicative of a decreased risk of developing glaucoma with a high visual field score or high cup/disk ratio.
A kit for determining whether an individual is at increased risk or decreased risk of developing early-onset glaucoma, comprising:
A kit for determining whether an individual is at increased risk or decreased risk of developing glaucoma with a high intraocular pressure at onset of disease, comprising:
A kit for determining whether an individual is at increased risk or decreased risk of developing glaucoma with a high intraocular pressure at onset of disease, comprising:
A kit for determining whether an individual is at increased risk or decreased risk of developing glaucoma with a high visual field score, a high cup/disk ratio, or both, comprising:
Dependencies are inferred from the claim text.