www.nei.nih.gov/learn-about-eye-health/eye-conditions-and-diseases/coloboma, www.aao.org/eye-health/diseases/what-is-coloboma, Linking to and Using Content from MedlinePlus, U.S. Department of Health and Human Services. Urban Rosenqvist . The pupil may be abnormally small or large at birth. Uveitis. } In: Freund KB, Sarraf D, Mieler WF, Yannuzzi LA, eds. Mutations of this location may also produce the WAGR complex (Wilms tumor, aniridia, genitourinary abnormalities, and mental retardation). Violet Clothing Store Website, window.lsow_fs = {can_use_premium_code: false}; Ocular abnormalities include heterochromia, cataracts, and abnormal retinal pigmentation. The familial form is autosomal dominant with complete penetrance but variable expressivity. If you have eye pain and vision problems with other signs and symptoms, you might need urgent medical care. Children need to be aware that ANY shape with five sides is a pentagon, just as ANY shape with six sides is a hexagon and ANY shape with eight sides is a hexagon. Does It Matter? } This gives the pupil an irregular shape. /*