Title of article :
Targeted Screening for Predominant CYP1B1 Mutations in Primary Congenital Glaucoma
Author/Authors :
Sarfarazi, Mansoor Department of Surgery - Molecular Ophthalmic Genetics Laboratory - UConn Health - Farmington - CT, USA
Abstract :
Advances in molecular genetic techniques and their
application to various clinical entities have provided
major improvements in prenatal, pre‑symptomatic and
preclinical diagnosis of human medical conditions.
Further investigations are underway to develop faster,
better and less costly diagnostic techniques that can
be easily implemented in everyday clinical settings.
However, all such clinical studies and technical
improvements require extensive initial investigation of
the clinical entities for a given targeted population and
development of a simple molecular test that can easily
be implemented in laboratories with limited access to
modern and expensive testing equipment.
Keywords :
Targeted Screening , CYP1B1 , Congenital Glaucoma
Journal title :
Astroparticle Physics