Molecular Analysis of Microphthalmia/Anophthalmia

NCT00011843 | Completed

• 2 other identifiers: 01009401-HG-0094
• Study Type: observational
• Target: 450
• Locations: 1 country
• Sites: 1

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: 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

Conditions

Anophthalmos

Keywords

X-Linked; Heterogeneous; Embryologic Development; Mental Retardation; Brain Development; Microphthalmia; Anophthalmia; Malformations; Lenz Dysplasia; Microphthalmia/Anophthalmia; Mutation Screening; Gene Characterization

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• National Human Genome Research Institute (NHGRI): lead

Study Sites (1)

National Institutes of Health Clinical Center, 9000 Rockville Pike

Bethesda, Maryland, 20892, United States

Location

Related Publications (3)

• Sensi A, Incorvaia C, Sebastiani A, Calzolari E. Clinical anophthalmos in a family. Clin Genet. 1987 Sep;32(3):156-9. doi: 10.1111/j.1399-0004.1987.tb03346.x.

  PMID: 3621661 BACKGROUND

• Seemanova E, Lesny I. X-linked microcephaly, microphthalmia, microcornea, congenital cataract, hypogenitalism, mental deficiency, growth retardation, spasticity: possible new syndrome. Am J Med Genet. 1996 Dec 11;66(2):179-83. doi: 10.1002/(SICI)1096-8628(19961211)66:23.0.CO;2-Q.

  PMID: 8958326 BACKGROUND

• Brunquell PJ, Papale JH, Horton JC, Williams RS, Zgrabik MJ, Albert DM, Hedley-Whyte ET. Sex-linked hereditary bilateral anophthalmos. Pathologic and radiologic correlation. Arch Ophthalmol. 1984 Jan;102(1):108-13. doi: 10.1001/archopht.1984.01040030092044.

  PMID: 6538407 BACKGROUND

MeSH Terms

Conditions

Anophthalmos; Intellectual Disability; Microphthalmos; Microphthalmia, syndromic 1

Condition Hierarchy (Ancestors)

Eye Abnormalities; Eye Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Signs and Symptoms; Pathological Conditions, Signs and Symptoms; Neurodevelopmental Disorders; Mental Disorders

Study Design

• Study Type: observational
• Sponsor Type: NIH

Study Record Dates

• First Submitted: February 28, 2001
• First Posted: March 1, 2001
• Study Start: February 22, 2001
• Study Completion: February 4, 2009
• Last Updated: July 2, 2017

Record last verified: 2009-02-04

Locations

US (1)