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Elena Milla, Susana Duch, Miguel Carballo, Maria Jose Gamundi; Last results of the Spanish Multicenter Genetic Glaucoma Group. Invest. Ophthalmol. Vis. Sci. 2013;54(15):6218.
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clinical and genetic characterization of unrelated Spanish patients affected by glaucoma coming from different parts of Spain.
all individuals underwent complete ophthalmologic examination. Screening for mutations in MYOC and CYP1B1 by direct genomic sequencing was performed in 302 families affected with different forms of glaucoma.
We identified one novel MYOC mutation in a primary open angle glaucoma family, and five previously reported MYOC mutations in seven families affected by different subtypes of glaucoma. Three novel CYP1B1 mutations were described and thirteen known mutations found in patients mainly with primary congenital glaucoma.
We think that the high rate of CYP1B1 mutations found in (33.3%) our congenital glaucoma patients makes its genetic testing mandatory. The rate of MYOC mutations was similar to the one reported in the literature. The genetic diagnostic of our glaucoma patients was regarded as a useful tool in order to modulate their treatment.
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