The Genetic Characteristics in South Korean Patients With Primary Congenital Glaucoma

NCT01020721 | Unknown DMC

• 1 other identifier: 2008-08-070
• Study Type: observational
• Target: 100
• Locations: 1 country
• Sites: 1

Brief Summary

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

Conditions

Primary Congenital Glaucoma

Keywords

CYP1B1 gene

Outcome Measures

Primary Outcomes (1)

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

  March 2010

Secondary Outcomes (1)

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

  september, 2010

Study Arms (1)

Glaucoma

South korean patients with primary congenital glaucoma

Eligibility Criteria

• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients with primary congenital glaucoma who visit the glaucoma clinic in south Korea

You may qualify if:

• Clinical diagnosis of primary congenital glaucoma
• Candidate for peripheral blood sampling

You may not qualify if:

• Congenital glaucoma which relates with other systemic disease

Sponsors & Collaborators

• Samsung Medical Center: lead

Study Sites (1)

Samsung Medical Center

Seoul, 135-710, South Korea

RECRUITING

Related Publications (5)

• Sarfarazi M, Stoilov I. Molecular genetics of primary congenital glaucoma. Eye (Lond). 2000 Jun;14 ( Pt 3B):422-8. doi: 10.1038/eye.2000.126.

  PMID: 11026969 BACKGROUND

• Panicker SG, Mandal AK, Reddy AB, Gothwal VK, Hasnain SE. Correlations of genotype with phenotype in Indian patients with primary congenital glaucoma. Invest Ophthalmol Vis Sci. 2004 Apr;45(4):1149-56. doi: 10.1167/iovs.03-0404.

  PMID: 15037581 BACKGROUND

• Ho CL, Walton DS. Primary congenital glaucoma: 2004 update. J Pediatr Ophthalmol Strabismus. 2004 Sep-Oct;41(5):271-88; quiz 300-1. doi: 10.3928/01913913-20040901-11.

  PMID: 15478740 BACKGROUND

• Miller SJ. Genetic aspects of glaucoma. Trans Ophthalmol Soc U K (1962). 1966;86:425-34. No abstract available.

  PMID: 5226587 BACKGROUND

• Gencik A. Epidemiology and genetics of primary congenital glaucoma in Slovakia. Description of a form of primary congenital glaucoma in gypsies with autosomal-recessive inheritance and complete penetrance. Dev Ophthalmol. 1989;16:76-115.

  PMID: 2676634 BACKGROUND

Biospecimen

Retention: SAMPLES WITH DNA

peripheral blood \- Genomic DNA was extracted from the peripheral leukocyte of all subjects through peripheral blood sampling

MeSH Terms

Conditions

Hydrophthalmos

Condition Hierarchy (Ancestors)

Eye Abnormalities; Eye Diseases; Glaucoma, Open-Angle; Glaucoma; Ocular Hypertension; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infant, Newborn, Diseases

Study Officials

• Chang Won Kee, M.D.

  Samsung Medical Center

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Chang Won Kee, M.D., Ph.D.

CONTACT

82-2-3410-3564; ckee@skku.edu

Sung Chul Park, M.D.

CONTACT

82-2-3410-2320; being111@hotmail.com

Study Design

• Study Type: observational
• Observational Model: FAMILY BASED
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER

Study Record Dates

• First Submitted: November 22, 2009
• First Posted: November 25, 2009
• Study Start: September 1, 2008
• Primary Completion: March 1, 2010
• Study Completion: September 1, 2010
• Last Updated: November 25, 2009

Record last verified: 2008-08

Locations

KR (1)