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Microphthalmos clinical trials

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NCT ID: NCT06293560 Recruiting - Coloboma Clinical Trials

Microphthalmia, Anophthalmia, and Coloboma Genetic Epidemiology in Children

MAGIC
Start date: September 25, 2022
Phase:
Study type: Observational

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

NCT ID: NCT05954403 Recruiting - Aniridia Clinical Trials

National Cohort on Congenital Defects of the Eye

RaDiCoACOEIL
Start date: July 11, 2017
Phase:
Study type: Observational

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

NCT ID: NCT04759560 Recruiting - Congenital Cataract Clinical Trials

Biometric Characteristics of the Eye With Microcornea/Microphthalmia and Congenital Cataract Before And After Cataract Extraction

Start date: July 25, 2020
Phase:
Study type: Observational

Early cataract surgery in microcornea/microphthalmia eyes is essential to prevent amblyopia and improve visual outcomes, including stereopsis. However, despite recent advances in pediatric cataract microsurgical techniques, this surgery remains challenging owing to several intraoperative difficulties attributable to the crowded anterior segment in these small, soft, and poorly developed eyes with shallow anterior chambers, and poor pupillary dilation. In this study the investigator aim to report on the changes in the anterior segment biometric characteristics after cataract extraction in eyes with microcornea/microphthalmia with congenital cataract.

NCT ID: NCT03748732 Active, not recruiting - Nanophthalmos Clinical Trials

Extensive Circumferential Partial Thickness Sclerectomy in Nanophthalmic Eyes

Start date: January 1, 2011
Phase: N/A
Study type: Interventional

Purpose: To describe an extensive scleral excision technique to treat or prevent uveal effusion in nanophthalmic eyes. Design: Prospective interventional case series. Methods: - Setting: Institutional. - Patient Population: Consecutive patients with nanophthalmos were operated on by one surgeon. - Intervention Procedure: A single, 90% thickness scleral window extending from immediately behind the extraocular muscle insertions to the vortex veins was performed for 3 and 1/4 quadrants as a circumferential strip. - Main Outcome Measure: Resolution or prevention of uveal effusion.

NCT ID: NCT01818037 Completed - Clinical trials for Microphthalmos With Congenital Cataracts

Long-term Postoperative Outcomes After Bilateral Congenital Cataract Surgery in Eyes With Microphthalmos

Start date: January 2003
Phase: N/A
Study type: Observational

Cataract surgery in infantile eyes, which are microphthalmic, can be even more demanding. In addition, the frequent presence of other ocular and systemic anomalies such as nystagmus, glaucoma, amblyopia, and higher rate of postoperative complications may limit the success of cataract surgery. In our previous study, the investigators examined the intraoperative performance and postoperative outcomes of bilateral cataract surgery in microphthalmic eyes of patients before their first birthday. At 1 year, the postoperative results showed that good visual outcomes could be obtained in microphthalmic eyes. Since only a few studies have reported outcomes, and that too only short term of cataract surgery on microphthalmic eyes, in this prospective observational study we evaluated the long-term impact of bilateral cataract surgery on eyes with microphthalmos. The investigators examined the outcomes, complication rates, influence of age at surgery on pattern of axial growth and central corneal thickness and visual and orthoptic assessment in these eyes.

NCT ID: NCT01778543 Recruiting - Coloboma Clinical Trials

Pathogenesis and Genetics of Microphthalmia, Anophthalmia and Uveal Coloboma (MAC)

Start date: January 8, 2013
Phase:
Study type: Observational

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.

NCT ID: NCT00011843 Completed - Anophthalmos Clinical Trials

Molecular Analysis of Microphthalmia/Anophthalmia

Start date: February 22, 2001
Phase: N/A
Study type: Observational

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