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Molecular Analysis of Microphthalmia/Anophthalmia

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ClinicalTrials.gov Identifier: NCT00011843
Recruitment Status : Completed
First Posted : March 1, 2001
Last Update Posted : July 2, 2017
Information provided by:
National Institutes of Health Clinical Center (CC)

Brief Summary:

This study will try to learn more about the genetic cause and symptoms of microphthalmia (small eyes) or anophthalmia (absence of one or both eyes).

Patients with microphthalmia or anophthalmia with mental retardation may be eligible for this study. Patients' parents and siblings will also be included for genetic studies. Patients may participate in both the clinical and laboratory parts of the study or just the laboratory part, as described below:


The laboratory study consists of DNA analysis to determine the genetic cause of microphthalmia/anophthalmia. The DNA sample is obtained using one of the following methods:

  • Blood draw - for young children, a numbing cream is applied to the skin before the needlestick to decrease the pain
  • Skin biopsy - a small piece of skin (about 1/8-inch in diameter) is removed surgically after the area has been numbed with an anesthetic
  • Cotton swab - a specimen is collected from inside the cheek using a cotton swab. This is done only for patients who cannot provide a blood or skin sample.
  • Prenatal sample - If, in the case of newborns, specimens are left from prenatal testing, these can be used instead of a blood sample.

Some patients may have a permanent cell line grown from the blood or skin sample for use in future research tests.


For the clinical study, participants undergo some or all of the following procedures at the NIH Clinical Center:

  • Physical examination
  • Clinical photographs, X-rays, blood tests
  • Magnetic resonance imaging (MRI) scan of the brain - a diagnostic procedure that uses a magnetic field and radio waves instead of X-rays to produce images of the brain

Condition or disease

Detailed Description:
We propose to identify and analyze the underlying mechanistic pathway of X-linked microphthalmia/anophthalmia. This is a heterogeneous group that includes syndromic microphthalmia 1 (MCOPS1) OMIM #309800, and syndromic microphthalmia 2 (MCOPS2) OMIM #300166 and other, as yet to be defined, malformations of the globe. We have identified a causative gene for MCOPS1 (Ng, et al 2004). To further delineate these conditions, we will study families with these features through a combined clinical and molecular approach. Specimens will be collected and evaluated in the laboratory by linkage analysis, physical mapping, candidate gene characterization, mutation screening, genotype-phenotype correlation, and cell biologic studies of normal and mutant proteins.

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Study Type : Observational
Enrollment : 450 participants
Official Title: Molecular Analysis of Microphthalmia/Anophthalmia and Related Disorders
Study Start Date : February 22, 2001
Study Completion Date : February 4, 2009

Information from the National Library of Medicine

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, Learn About Clinical Studies.

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

Inclusion criteria will consist of affected individuals with unilateral or bilateral microphthalmia/anophthalmia from families with an X-linked mode of transmission. In addition, we may analyze patients with mental retardation with or without eye defects to allow genotype phenotype correlation studies. Parents and siblings will be included for linkage analysis. Unaffected non-transmitting parents may be included to clarify haplotype status. In addition, families with X-linked microphthalmia/anophthalmia with associated anomalies such as Lenz dysplasia and other X-linked microphthalmia/anophthalmia syndromes will be analyzed to determine if these conditions are allelic. Sporadic cases of microphthalmia with or without mental retardation may be considered for study, along with parents and unaffected siblings. Unaffected subjects may also be enrolled if needed for controls.

Specimens from patients collected at outside institutions may be accepted into the study if they were collected under an IRB-approved protocol at a multiple project assurance (FWA) institution or if the IRB waives review of the study and allows usage of the NIH consent. Some of these patient samples may represent overlapping phenotypes (e.g., laterality defects) and not microphthalmia. Inheritance patterns may not be known for these.


If the patient has microphthalmia/anophthalmia with autosomal recessive, autosomal dominant pattern of inheritance, the family will be excluded. While this criterion should enrich for X-linked syndromic microphthalmia, the rarity of the disorder necessitates that we will accept small families and even sporadic cases if they have substantial clinical overlap with Lenz or OFCD.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00011843

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United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States, 20892
Sponsors and Collaborators
National Human Genome Research Institute (NHGRI)
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ClinicalTrials.gov Identifier: NCT00011843    
Other Study ID Numbers: 010094
First Posted: March 1, 2001    Key Record Dates
Last Update Posted: July 2, 2017
Last Verified: February 4, 2009
Keywords provided by National Institutes of Health Clinical Center (CC):
Embryologic Development
Mental Retardation
Brain Development
Lenz Dysplasia
Mutation Screening
Gene Characterization
Additional relevant MeSH terms:
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Eye Abnormalities
Eye Diseases
Congenital Abnormalities