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</div><div><span>Coloboma of the iris</span></div></div>
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</noscript></div><div class="main"><div id="ency_summary"><p>Coloboma of the iris is a hole or defect of the <a test="test" href="./002386.htm">iris</a> of the eye. Most colobomas are present since birth (congenital).</p></div><section><div class="section"><div class="section-header"><div class="section-title"><h2>Considerations</h2></div><div class="section-button"><button type="submit" aria-controls="section-1" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-1"><p>Coloboma of the iris can look like a second pupil or a black notch at the edge of the pupil. This gives the pupil an irregular shape. It can also appear as a split in the iris from the pupil to the edge of the iris.</p><p>A small coloboma (especially if it is not attached to the pupil) may allow a second image to focus on the back of the eye. This may cause: </p><ul><li>Blurred vision</li><li><a test="test" href="./003029.htm">Decreased visual acuity</a></li><li>Double vision</li><li>Ghost image </li></ul><p>If it is congenital, the defect may include the <a test="test" href="./002291.htm">retina</a>, <a test="test" href="./002318.htm">choroid</a>, or optic nerve.</p><p>Most colobomas are diagnosed at birth or shortly afterward. </p></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Causes</h2></div><div class="section-button"><button type="submit" aria-controls="section-2" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-2"><p>Most cases of coloboma have no known cause and are not related to other abnormalities. Some are due to a specific genetic defect. A small number of people with coloboma have other inherited developmental problems.</p></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>When to Contact a Medical Professional</h2></div><div class="section-button"><button type="submit" aria-controls="section-3" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-3"><p>Contact your health care provider if:</p><ul><li>You notice that your child has what appears to be a hole in the iris or an unusual-shaped pupil.</li><li>Your child's vision becomes blurred or decreased. </li></ul><p>In addition to your child, you may also need to see an eye specialist (ophthalmologist). </p></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>What to Expect at Your Office Visit</h2></div><div class="section-button"><button type="submit" aria-controls="section-4" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-4"><p>Your provider will take a medical history and do an exam.</p><p>Since the problem is most often diagnosed in infants, knowing about the family history is very important.</p><p>The provider will do a detailed eye exam that includes looking into the back of the eye while the eye is dilated. An <a test="test" href="./003791.htm">MRI</a> of the brain, eyes, and connecting nerves may be done if other problems are suspected.</p></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Alternative Names</h2></div><div class="section-button"><button type="submit" aria-controls="section-Alt" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-Alt"><p>Keyhole pupil; Cat eye syndrome; Iris defect</p></div></div></section><section><div class="section sec-mb"><div class="section-header"><div class="section-title"><h2>Images</h2></div><div class="section-button"><button type="submit" aria-controls="section-tnails" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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<li><img src="//medlineplus.gov/ency/images/ency/tnails/8750t.jpg" alt="Coloboma of the iris" title="Coloboma of the iris" class="side-img"/><a href="../imagepages/8750.htm">Coloboma of the iris</a></li>
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</ul></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>References</h2></div><div class="section-button"><button type="submit" aria-controls="section-Ref" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-Ref"><p>Brodsky MC, Houghton O. Congenital optic disc anomalies. In: Yanoff M, Duker JS, eds. <em>Ophthalmology</em>. 6th ed. Philadelphia, PA: Elsevier; 2023:chap 9.5.</p><p>Freund KB, Sarraf D, Mieler WF, Yannuzzi LA. Congenital and developmental anomalies of the optic nerve. In: Freund KB, Sarraf D, Mieler WF, Yannuzzi LA, eds. <em>The Retinal Atlas</em>. 2nd ed. Philadelphia, PA: Elsevier; 2017:chap 15.</p><p>National Eye Institute (NIH) website. Coloboma. <a href="https://www.nei.nih.gov/learn-about-eye-health/eye-conditions-and-diseases/coloboma" target="_blank">www.nei.nih.gov/learn-about-eye-health/eye-conditions-and-diseases/coloboma</a>. Updated November 15, 2023. Accessed December 6, 2023.</p><p>Olitsky SE, Marsh JD. Abnormalities of pupil and iris. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. <em>Nelson Textbook of Pediatrics</em>. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 640.</p><p>Porter D. American Academy of Ophthalmology website. What is a coloboma? <a href="https://www.aao.org/eye-health/diseases/what-is-coloboma" target="_blank">www.aao.org/eye-health/diseases/what-is-coloboma</a>. Accessed December 6, 2023.</p><p>Selzer EB, Blain D, Hufnagel RB, Lupo PJ, Mitchell LE, Brooks BP. Review of evidence for environmental causes of uveal coloboma. <em>Surv Ophthalmol</em>. 2022;67(4):1031-1047. PMID: 34979194 <a href="https://pubmed.ncbi.nlm.nih.gov/34979194/" target="_blank">pubmed.ncbi.nlm.nih.gov/34979194/</a>.</p></div></div></section>
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<section><div class="section"><div class="section-header"><div class="section-title"><h2>Review Date 11/8/2023</h2></div><div class="section-button"><button type="submit" aria-controls="section-version" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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<div id="section-version" class="section-body"><p>Updated by: Franklin W. Lusby, MD, Ophthalmologist, Lusby Vision Institute, La Jolla, CA. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team. </p>
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