Protocol Number: 01-HG-0094

Title:

Molecular Analysis of Microphthalmia/Anophthalmia

Number:

01-HG-0094

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:

Laboratory

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.

Clinical

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

Sponsoring Institute:

National Human Genome Research Institute (NHGRI)

Recruitment Detail

Type: Active Accrual Of New Subjects

Gender: Male & Female

Referral Letter Required: No

Population Exclusion(s): None

Eligibility Criteria:

INCLUSION CRITERIA:

Affected individuals with unilateral or bilateral microphthalmia/anophthalmia from families with an X-linked mode of transmission. 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 recessive microphthalmia/anopthalmia syndrome will be analyzed to determine if these conditions are allelic.

In latter stages of the study, a limited number of sporadic cases of microphthalmia with or without mental retardation may be considered for the study, along with parents and unaffected siblings.

Unaffected subjects may also be enrolled if needed for controls.

EXCLUSION CRITERIA:

If the patient has microphthalmia/anophthalmia with autosomal recessive or autosomal dominant pattern of inheritance, the family will be excluded.

Special Instructions: Currently Not Provided

Keywords:

X-Linked

Heterogeneous

Embryologic Development

Mental Retardation

Brain Development

Microphthalmia

Anophthalmia

Recruitment Keywords:

Lenz Dysplasia

Mental Retardation

Microphthalmia/Anophthalmia

Mutation Screening

Gene Characterization

Conditions:

Anophthalmos

Investigational Drug(s):

None

Investigational Device(s):

None

Contacts:

Patient Recruitment and Public Liaison Office
Building 61
10 Cloister Court
Bethesda, Maryland 20892-4754
Toll Free: 1-800-411-1222
TTY: 301-594-9774 (local),1-866-411-1010 (toll free)
Fax: 301-480-9793

Electronic Mail:prpl@mail.cc.nih.gov

Citations:

Clinical anophthalmos in a family

X-linked microcephaly, microphthalmia, microcornea, congenital cataract, hypogenitalism, mental deficiency, growth retardation, spasticity: possible new syndrome

Sex-linked hereditary bilateral anophthalmos Pathologic and radiologic correlation

• Questions about participating in a study, please contact the Patient Recruitment and Public Liaison Office, CC.
• Technical questions regarding the Clinical Center web site, please contact the Department of Networks and Applications, CC.

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Warren Grant Magnuson Clinical Center (CC)
National Institutes of Health (NIH)
Bethesda, Maryland 20892. Last update: 10/21/2004