Study Status: Completed
Recruit Status: Completed
Study Type: Observational
Official Title: Molecular Analysis of Microphthalmia/Anophthalmia and Related Disorders
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:
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: