Coloboma Overview
Learn About Coloboma
Coloboma is an eye abnormality that occurs before birth. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in one of several parts of the eye, including the colored part of the eye called the iris; the retina, which is the specialized light-sensitive tissue that lines the back of the eye; the blood vessel layer under the retina called the choroid; or the optic nerves, which carry information from the eyes to the brain.
Coloboma arises from abnormal development of the eye. During the second month of development before birth, a seam called the optic fissure (also known as the choroidal fissure or embryonic fissure) closes to form the structures of the eye. When the optic fissure does not close completely, the result is a coloboma.
Coloboma occurs in approximately 1 in 10,000 people. Because coloboma does not always affect vision or the outward appearance of the eye, some people with this condition are likely undiagnosed.
Most often, isolated coloboma is not inherited, and there is only one affected individual in a family. However, the affected individual is still at risk of passing the coloboma on to his or her own children.
Brian Brooks is an Ophthalmologist in Washington, Washington, D.c.. Dr. Brooks and is rated as an Elite provider by MediFind in the treatment of Coloboma. His top areas of expertise are Coloboma, Albinism, Oculocutaneous Albinism, and Oculocutaneous Albinism Type 1.
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Nicolas Chassaing practices in Toulouse, France. Chassaing and is rated as an Elite expert by MediFind in the treatment of Coloboma. His top areas of expertise are Microphthalmia, Anophthalmia Plus Syndrome, Coloboma, Oculofaciocardiodental Syndrome, and Pancreas Transplant.
Nicola Ragge practices in Birmingham, United Kingdom. Ragge and is rated as an Elite expert by MediFind in the treatment of Coloboma. Her top areas of expertise are Microphthalmia, Anophthalmia Plus Syndrome, Coloboma, and Micropthalmia Associated with Colobomatous Cyst.
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. Uveal coloboma is part of a spectrum of developmental eye conditions that include anophthalmia and microphthalmia, typically referred to as MAC. Several genes have been linked to MAC, but the cause of...
Summary: 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
Published Date: October 01, 2018
Published By: National Institutes of Health