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

Condition
Anophthalmos

We are interested in identifying the underlying mechanistic pathway of microphthalmia/anophthalmia with mental retardation. This a heterogeneous group that includes Lenz dysplasia/microphthalmia with associated anomalies (MAA) OMIM #309700, and Clinical anophthalmos (ANOP1) OMIM #301590 and other as yet to be defined malformations of the globe. To date, the causative molecular defects leading to these conditions have not been identified. 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, and cell biologic studies of normal and mutant proteins.

Genders Eligible for Study:  Both

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.

Maryland
      National Human Genome Research Institute (NHGRI), 9000 Rockville Pike,  Bethesda,  Maryland,  20892,  United States; Recruiting

Study ID Numbers:  010094; 01-HG-0094
Record last reviewed:  January 29, 2004
Last Updated:  January 29, 2004
Record first received:  February 28, 2001
ClinicalTrials.gov Identifier:  NCT00011843
Health Authority: United States: Federal Government
ClinicalTrials.gov processed this record on 2004-11-08