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Genetic Testing in Primary Congenital Glaucoma Patients

This study is currently recruiting participants.
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Verified September 2014 by Orna Geyer, Carmel Medical Center
Information provided by (Responsible Party):
Orna Geyer, Carmel Medical Center Identifier:
First received: June 2, 2010
Last updated: September 17, 2014
Last verified: September 2014

Primary congenital glaucoma patients and their immediate relatives will undergo complete ophthalmic examination and an interview with a geneticist. A blood sample will be drown from all participants for DNA analysis.

The CYP1B1 gene coding sequences will be screened for all individuals. If no mutation or only one heterozygous mutation will be found in the CYP1B1 gene, screening for MYOC gene mutations will be performed.

Congenital Glaucoma

Study Type: Observational
Study Design: Observational Model: Case-Only
Time Perspective: Retrospective
Official Title: Genetic Testing in Primary Congenital Glaucoma Patients

Resource links provided by NLM:

Further study details as provided by Orna Geyer, Carmel Medical Center:

Primary Outcome Measures:
  • Mutations in the CYP1B1 gene [ Time Frame: one year ]
    Mutations in the CYP1B1 gene were detected in 12 of 26 (46%) families with PCG (5 Muslim Arab, 5 Druze, 2 Jewish). Jewish families had compound heterozygous mutations, i.e. an Ashkenazi family had mutations in the CYP1B1 gene (Arg368His and R48G, A119S and L432V haplotypes), and an Ashkenazi-Sephardic family had a mutation on the CYP1B1 gene (1908delA, Sephardic) with a second missense mutation on the MYOC gene (R76K, Ashkenazi). Muslim Arabs and Druze tended to have a more severe phenotype than did the Jews.

Biospecimen Retention:   Samples With DNA
blood samples

Estimated Enrollment: 400
Study Start Date: May 2006
Estimated Study Completion Date: May 2020
Estimated Primary Completion Date: May 2020 (Final data collection date for primary outcome measure)
Primary congenital glaucoma
Primary congenital glaucoma patients and their immediate relatives

Detailed Description:

Primary congenital glaucoma (PCG) is usually present in the neonatal or

infantile period and is accompanied by corneal opacity and edema, buphthalmos, increased intraocular pressure, optic nerve cupping, and at times, ensuing severe visual impairment. The incidence of the disease varies significantly in different geographic regions and is more frequently found in certain ethnic groups, especially where consanguinity is prevalent. The incidence in Western countries has been reported to range from 1:5000 and 1:10000 births, and in populations where consanguinity is prevalent, such as among Slovakian Gypsies and Saudi Arabians, the incidence ranges from 1:1250 and 1:2500 births, respectively. PCG is believed to be an autosomal-recessive transmitted disease with incomplete penetrance. Three different loci have been mapped for it, i.e., GLC3A on chromosome 2p21, GLC3B on 1p36.2 and GLC3C on 14q24.3. The major gene that currently has been identified to be associated with PCG is the CYP1B1 gene at locus GLC3A, which encodes a member of the cytochrome P450. The frequency of mutations in the CYP1B1 gene in PCG patients varies in different geographic locations and ethnic groups. For example, mutations in the CYP1B1 gene are found in 33% of patients in Japan and Indonesia, while among Saudi Arabian and Slovakian Gypsy patients, the incidence rises to 94% and 100%, respectively. Mutations in myocilin (MYOC) have also been associated with PCG.

Determining the presence of CYP1B1 mutations in PCG patients will improve our ability to counsel parents regarding cause, inheritance and the risk of it in future offspring.

The aim of the present study is to characterize the phenotype and determine the role of CYP1B1 and MYOC mutations in PCG in Israeli populations


Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
Primary congenital glaucoma patients and their immediate relatives

Inclusion Criteria:

  • Primary congenital glaucoma pediatric patients
  • Glaucoma that was diagnosed within the first 12 months of their life
  • Primary congenital glaucoma pediatric patients`s parents

Exclusion Criteria:

  • any other ocular or systemic diseases
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT01136460

Contact: Alvit Wolf, MD 972-4-8250419

Carmel Medical Center Recruiting
Haifa, Israel, 34362
Contact: Zina Goldbaum, Mrs    972-4-8250419   
Sub-Investigator: Wolf Alvit, MD         
Sponsors and Collaborators
Carmel Medical Center
Principal Investigator: Orna Geyer, Professor Carmel Medical Center
  More Information

Publications automatically indexed to this study by Identifier (NCT Number):
Responsible Party: Orna Geyer, Professor, Carmel Medical Center Identifier: NCT01136460     History of Changes
Other Study ID Numbers: CMC052005CTIL
Study First Received: June 2, 2010
Last Updated: September 17, 2014

Keywords provided by Orna Geyer, Carmel Medical Center:
Primary congenital glaucoma
Genotype correlation
Phenotype correlation

Additional relevant MeSH terms:
Ocular Hypertension
Eye Diseases
Eye Abnormalities
Glaucoma, Open-Angle
Congenital Abnormalities
Infant, Newborn, Diseases processed this record on September 25, 2017