Primary Congenital Glaucoma | The Genetic Characteristics in South Korean Patients With Primary Congenital Glaucoma

Primary Congenital Glaucoma research study

What is the primary objective of this study?

Primary congenital glaucoma, which presents at birth or in infancy, if left untreated, may threaten vision. The incidence of congenital glaucoma varies among different geographic locations and ethnic groups. Three genetic loci for primary congenital glaucoma (GLC3A in 2p21, GLC3B in 1p36, GLC3C in 14q24.3) were identified. CYP1B1 (cytochrome P450 1B1 ) gene, in the GLC3A locus is the main known gene and different CYP1B1 mutations has been described. The genetic characteristics in south Korean patients with primary congenital glaucoma have not been reported yet and the genotype-phenotype correlations, the prognosis and the genetic counseling have not also been established. This study represents the first repot about the rate of CYP1B1 mutations, the genotype-phenotype correlations in south Korean patients with primary congenital glaucoma. Patients with primary congenital glaucoma and their family will be analyzed for CYP1B1 mutations by direct sequencing of polymerase chain reaction fragments. Primary congenital glaucoma will be diagnosed according to the clinical parameters by glaucoma specialists. Patients were classified to several groups according to the pattern of mutations. Clinical parameters and genotype correlation will be compared between groups

Who is eligible to participate?

Inclusion Criteria: - Clinical diagnosis of primary congenital glaucoma - Candidate for peripheral blood sampling Exclusion Criteria: - Congenital glaucoma which relates with other systemic disease

Which medical condition, disease, disorder, syndrome, illness, or injury is researched?

Primary Congenital Glaucoma

Study Interventions

Interventions can include giving participants drugs, medical devices, procedures, vaccines, and other products that are either investigational or already available or noninvasive approaches such as surveys, education, and interviews.

Study Arms

Research studies and clinical trials typically have two or more research arms. An arm is a group of people who receive the same treatment in the study.

GlaucomaSouth korean patients with primary congenital glaucoma

Study Status

Unknown status

Start Date: September 2008

Completed Date: September 2010


Type: Observational


Primary Outcome: clinical parameters of primary congenital glaucoma (age, onset time, symptom, intraocular pressure, corneal diameter, cup to disc ratio, axial length, treatment type)

Secondary Outcome: clinical parameters of primary congenital glaucoma (age, onset time, symptom, intraocular pressure, corneal diameter, cup to disc ratio, refraction, axial length, treatment type)

Study sponsors, principal investigator, and references

Principal Investigator: Chang Won Kee, M.D.

Lead Sponsor: Samsung Medical Center


More information:

Sarfarazi M, Stoilov I. Molecular genetics of primary congenital glaucoma. Eye (Lond). 2000 Jun;14 ( Pt 3B):422-8. Review.

Discuss Glaucoma