[Mendelian molecular genetics in glaucoma].
Early-onset forms of glaucoma are inherited as Mendelian-dominant or Mendelian-recessive traits. They encompass primary congenital or infantile glaucoma; juvenile primary open-angle glaucoma; development glaucomas including Rieger syndrome, glaucoma associated with nail-patella syndrome, Peters' anomaly, and nanophthalmos; and glaucoma associated with pigment dispersion syndrome. Personalized gene therapy has been proposed as an alternative therapeutic strategy for ocular diseases. This approach might be applicable in families with primary congenital glaucoma and defined mutations in the CYP1B1 gene.
Clinica de Oftalmologie Cluj-Napoca.
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Călugăru
D017668:Age of Onset; D001189:Aryl Hydrocarbon Hydroxylases; D065633:Cytochrome P-450 CYP1B1; D003577:Cytochrome P-450 Enzyme System / Q000235:genetics*; D004252:DNA Mutational Analysis; D005819:Genetic Markers / Q000235:genetics; D005901:Glaucoma / Q000151:congenital / Q000201:enzymology / Q000453:epidemiology / Q000235:genetics*; D005902:Glaucoma, Open-Angle / Q000235:genetics; D014943:Global Health; D006801:Humans; D015994:Incidence; D057182:Mendelian Randomization Analysis / Q000379:methods*; D009154:Mutation; D010375:Pedigree
D005819:Genetic Markers; D003577:Cytochrome P-450 Enzyme System; D001189:Aryl Hydrocarbon Hydroxylases; C585496:CYP1B1 protein, human; D065633:Cytochrome P-450 CYP1B1