View clinical trials related to Anophthalmos.
Filter by:The investigators are inviting families to take part in a research study that will help us better understand the physical characteristics associated with children who have Microphthalmia, Anophthalmia, and Coloboma (MAC) and how changes in their DNA sequence, called genetic mutations, play a role in the risk of developing MAC
Congenital malformations of the eye comprise various developmental defects including microphthalmia, anophthalmia, aniridia, and anterior segment anomalies (such as Peters and Axenfeld-Rieger anomalies). These malformations are frequently associated with extra-ocular features and intellectual disability. However, little is known about visual outcome, frequency and consequences of extra-ocular features in patients. The originality of the project will be to include a spectrum of malformation thought to be a phenotypic continuum (anophthalmia, microphthalmia, aniridia, anterior segment dysgnesis). In addition, we aim to conduct a 10 year follow-up of these children, thus allowing determining ocular and neurological outcomes as any other medical event. We should also be able to determine phenotypic factors that would be associated with good or poor visual and neurologic outcomes
This study will evaluate the effect of posterior placement of orbital implants on their motility compared to intrascleral placement after evisceration .
Understand better the aetiology and physiopathogenesis of anophthalmic socket syndrome.
The loss of an eye, whether congenital or acquired, is a severe psychological trauma with negative impact on the quality of life of the patient. While rehabilitation with a customized ocular prosthesis anatomically restores the facial appearance, the final outcome is largely determined by the subjective satisfaction of the patient. By investigating the level of subjective perception, the quality of care can be improved.
Background: - Uveal coloboma is a condition where the eye does not form normally. It occurs early in the fetus s development during pregnancy. It can lead to different kinds of eye problems, including blindness. Several genes have been linked to coloboma, but the cause of most cases is hard to find. Researchers want to study the genes of people who have coloboma and genes from their close, unaffected relatives (such as parents and siblings). Objectives: - To study the genes associated with uveal coloboma. Eligibility: - Individuals at least 1 years of age who either have uveal coloboma or are an unaffected relative (such as a parent or sibling). Design: - Participants will have a physical exam and medical history. They will also have a full eye exam. - Participants with uveal coloboma may have other exams, such as imaging studies and hearing assessments. - All participants will also provide blood, cheek swab or saliva or DNA samples for genetic testing.
Pegging the hydroxyapatite for increasing prosthetic motility sometimes leads to some complications for the patient. These complications ranging from discharge, granuloma formation, exposure, implant infection to socket discomfort and etc. We are going to compare prosthetic motility, objectively and subjectively (patients satisfaction) before and after pegging the hydroxy- apatite, and evaluate the complications after pegging.
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