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Observations: A premature female infant (31 weeks) had left superotemporal coloboma involving iris and retina, with left multicystic and hypoplastic kidney, ASD, VSD, and mild pulmonary valve stenosis. Whole-genome and mitochondrial DNA sequencing were negative. Conclusions and importance: Absence of genetic findings requires further exploration of alternative etiologies for isolated atypical coloboma.",{"@graph":69,"@context":122},[70,84,105],{"@type":71,"itemListElement":72},"BreadcrumbList",[73,77,79,82],{"item":74,"name":75,"@type":76,"position":8},"https://docshare.wps.com","Home","ListItem",{"item":78,"name":9,"@type":76,"position":14},"https://docshare.wps.com/document/",{"item":80,"name":35,"@type":76,"position":81},"https://docshare.wps.com/document/healthcare/",3,{"item":83,"name":65,"@type":76,"position":19},"https://docshare.wps.com/document/atypical-superotemporal-iris-and-retinal-coloboma-case-report-findings/441634/",{"url":83,"name":65,"@type":85,"image":86,"author":91,"headline":65,"publisher":94,"fileFormat":97,"inLanguage":63,"description":67,"dateModified":98,"datePublished":99,"encodingFormat":97,"isAccessibleForFree":100,"interactionStatistic":101},"DigitalDocument",{"url":87,"@type":88,"width":89,"height":90},"https://docshare.wps.com/thumbnails/atypical-superotemporal-iris-and-retinal-coloboma-case-report-findings/441634.png","ImageObject",300,407,{"name":92,"@type":93},"Jordan Avery","Person",{"url":74,"name":95,"@type":96},"DocShare","Organization","application/pdf","2026-10-29","2026-09-29",true,{"@type":102,"interactionType":103,"userInteractionCount":52},"InteractionCounter",{"@type":104},"ViewAction",{"@type":106,"mainEntity":107},"FAQPage",[108,114,118],{"name":109,"@type":110,"acceptedAnswer":111},"What is a coloboma and how is it typically formed during eye development?","Question",{"text":112,"@type":113},"A coloboma is a deficiency or malformation of eye tissue, usually arising from partial or incomplete closure of the optic fissure by the seventh week of embryonic eye development.","Answer",{"name":115,"@type":110,"acceptedAnswer":116},"What ocular and systemic abnormalities were observed in the reported patient?",{"text":117,"@type":113},"The patient had a left superotemporal iris and retinal coloboma. Systemic findings included left multicystic and hypoplastic kidney, atrial septal defect, ventricular septal defect, and mild pulmonary valve stenosis.",{"name":119,"@type":110,"acceptedAnswer":120},"What were the genetic testing results and what do they imply?",{"text":121,"@type":113},"Whole genome sequencing and mitochondrial DNA sequencing both returned negative results. The authors conclude that further investigation is needed for alternative causes of isolated atypical coloboma.","https://schema.org",{"og:url":83,"og:type":124,"og:title":65,"og:site_name":95,"og:description":67},"article",{"robots":126,"canonical":83},"index,follow",{"doc_id":128,"site_id":62},441634,1790830980,{"code":4,"msg":5,"data":131},{"doc_id":128,"user_id":132,"nickname":92,"user_avatar":133,"doc_module":4,"category_id":34,"category_name":35,"doc_title":65,"doc_description":67,"doc_content":134,"file_id":135,"file_url":136,"file_type":137,"file_size":138,"view_count":52,"is_deleted":4,"is_public":8,"is_downloadable":8,"audit_status":8,"page_count":19,"language":139,"language_code":63,"site_id":62,"html_lang":63,"table_of_contents":140,"faqs":141,"seo_title":142,"seo_description":67,"update_tm":143,"read_time":52,"preview_page_count":4},1099523882367,"https://ap-avatar.wpscdn.com/davatar_9964176cb1d06d4a9deccf72a44ae3dc","American Journal of Ophthalmology Case Reports 41 (2026) 102488  \nContents lists available at ScienceDirect  \nAmerican Journal of Ophthalmology Case Reports  \njournal [homepage:](homepage: www.ajocasereports.com/)[ www.ajocasereports.com/](homepage: www.ajocasereports.com/)  \n| Atypical superotemporal iris and retinal coloboma\u003Cbr>*\u003Cbr>Katina N. Patterson , Margaret M. Reynolds , Gregg T. Lueder\u003Cbr>Washington University in St. Louis, Department of Ophthalmology and Visual Sciences, Washington University School of Medicine in St. Louis, St. Louis, MO, 63110, USA |  |  |\n| --- | --- | --- |\n| A R T I C L E I N F O |  | A B S T R A C T |\n| Keywords:\u003Cbr>Atypical coloboma Congenital abnormalities Embryonic fissure closure Genome sequencing |  | Purpose: To report our findings in a patient with an atypical case of supertemporal iris and retinal coloboma, and to assess its systemic associations and potential genetic causes.\u003Cbr>Observations: A premature female infant born at 31 weeks gestation presented a left eye superotemporal coloboma affecting both the iris and retina. Systemic abnormalities included a left multicystic kidney, hypoplastic left kidney, atrial septal defect, ventricular septal defect, and mild pulmonary valve stenosis. Whole genome sequencing and mitochondrial deoxyribonucleic acid (DNA) sequencing were performed, and both returned negative results.\u003Cbr>Conclusions and importance: The absence of genetic findings from the negative results of both genome sequencing and mitochondrial DNA sequencing demand further exploration of alternative etiological factors for isolated atypical coloboma. |\n\n1. Introduction  \nColoboma refers to the deficiency or malformation of eye tissue, presenting as a cleft or gap. This congenital anomaly is the result of partial or incomplete closure of the optic fissure by the seventh week of embryonic eye development. A coloboma can manifest within various ocular tissues, including the retina, lens, ciliary body, optic nerve, and iris. Symptoms of colobomas vary depending on the size and location of the defect. In the majority of cases where the coloboma affects the iris alone, vision is unaffected. Visual acuity may be compromised when the coloboma impacts the optic disc or retina, or is compounded by the development of cataracts, retinal detachments, or uncorrected refractive errors.1 In one population-based study, ocular coloboma was found to occur in 1 in 2077 live births.2 The study also revealed that more than half of the individuals with ocular coloboma were diagnosed with ocular disorders other than coloboma. Among these, strabismus or amblyopia was identified in approximately one-third of patients, and microphthalmia or anophthalmia was identified in 15 %. Additionally, two-thirds of the patients were diagnosed with non-ocular disorders, most notably CHARGE syndrome. Albeit rare, colobomas or coloboma-related malformations are estimated to account for up to 10 % of childhood blindness.3  \nTypically, colobomas are situated in the inferonasal quadrant of the eye where the embryonic cleft is located. Colobomas located in superior  \nand temporal regions are therefore considered atypical and they may not be associated with embryonic fissure closure defects. The atypical superotemporal location of the coloboma presented in this case suggests that the underlying causative factors may extend beyond embryonic optic fissure development.  \n2. Case report  \nA premature female infant was born at 31 weeks 2 days gestation weighing 1350 g due to maternal preeclampsia, intrauterine growth restriction (IUGR), and known fetal abnormalities including pericardialeffusion, left multicystic kidney, and pyelectasis. She underwent routine retinopathy of prematurity screening. During screening, she was found to have a left eye superotemporal iris and retina coloboma (Fig. 1; Fig. 2), and the vision was blink to light in both eyes.  \nThe patient required monitoring for potential instability related to respirator","cbCaisepFcSvKcOK","https://ap.wps.com/l/cbCaisepFcSvKcOK","pdf",1872491,"English","# Introduction\n# Case report","[{\"question\":\"What is a coloboma and how is it typically formed during eye development?\",\"answer\":\"A coloboma is a deficiency or malformation of eye tissue, usually arising from partial or incomplete closure of the optic fissure by the seventh week of embryonic eye development.\"},{\"question\":\"What ocular and systemic abnormalities were observed in the reported patient?\",\"answer\":\"The patient had a left superotemporal iris and retinal coloboma. Systemic findings included left multicystic and hypoplastic kidney, atrial septal defect, ventricular septal defect, and mild pulmonary valve stenosis.\"},{\"question\":\"What were the genetic testing results and what do they imply?\",\"answer\":\"Whole genome sequencing and mitochondrial DNA sequencing both returned negative results. The authors conclude that further investigation is needed for alternative causes of isolated atypical coloboma.\"}]","Atypical superotemporal iris and retinal coloboma - Case report findings | PDF",1790696885]