CHARGE syndrome – characterized by coloboma, heart defects, atresia, retarded growth and development, genital hypoplasia (undescended testicles), and ear abnormalities.Renal coloboma syndrome – characterized by optic nerve dysplasia and renal hypodysplasia.Ocular Coloboma may be a feature of the following syndromes: Eyelid coloboma – gaps that occur in the eyelids are also called colobomas, but they arise from abnormalities in different structures during early development.Retinal detachment – separation of the retina from the back of the eye.Nystagmus – involuntary back-and-forth eye movements.Vision problems such as nearsightedness (myopia).Glaucoma – increased pressure inside the eye that can damage the optic nerve.Cataract – clouding of the lens of the eye.
Microphthalmia – one or both eyeballs are abnormally small.Some people with coloboma have associated eye abnormalities, including: It may occur with other conditions or as part of a syndrome that affects other organs and tissues in the body. What Other Conditions Are Associated With Coloboma?Ĭoloboma may occur by itself - which is described as nonsyndromic or isolated. Vision impairment or loss that may not always be correctable.Light sensitivity or photophobia (usually occurs with iris coloboma).How vision is affected depends on where the gap or gaps occur in the eye. Persons with an isolated coloboma may have normal vision and no symptoms, or they may have mild to severe vision impairment. Although symptoms can be managed, there is currently no cure for the condition. It is typically discovered at birth, although it does not always affect vision or the outward appearance of the eye.īecause this condition can be associated with other health conditions affecting the eye and other parts of the body, careful evaluation and monitoring of a child with coloboma is important. This eye condition is estimated to occur in about one in 10,000 people. Large retinal colobomas, or those affecting the optic nerve, can cause vision loss that cannot be completely corrected with glasses or contact lenses. Persons with this problem of the iris often have fairly good vision, but those with it involving the retina may have vision loss in specific parts of the visual field, which can cause problems with reading, writing, and close-up work or play. Most often presenting as a keyhole-shaped pupil, coloboma may affect one or both eyes.
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