Article

[Mendelian molecular genetics in glaucoma].

Clinica de Oftalmologie Cluj-Napoca.
Oftalmologia (Bucharest, Romania: 1990) 01/2010; 54(3):8-20. pp.8-20
Source: PubMed

ABSTRACT 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.

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Keywords

alternative therapeutic strategy
 
development glaucomas
 
Early-onset forms
 
families
 
infantile glaucoma
 
nanophthalmos
 
ocular diseases
 
Personalized gene therapy
 
Peters' anomaly
 
pigment dispersion syndrome
 
primary congenital glaucoma