Persistent foetal vasculature with anterior retinal extension, anterior vitreous extension, and morning glory syndrome: A hypothesis-generating ocular dysgenesis association

Persistent foetal vasculature with anterior retinal extension, anterior vitreous extension, and morning glory syndrome: A hypothesis-generating ocular dysgenesis association | Research Square window.SnipcartSettings = { analytics: { enabled: false } }; (function() { var accessVector = localStorage.getItem('access_vector') || ''; window.dataLayer = window.dataLayer || []; if (accessVector) { window.dataLayer.push({ user: { profile: { profileInfo: { snid: accessVector } } } }); } })(); (function(w,d,s,l,i){w[l]=w[l]||[];w[l].push({'gtm.start':new Date().getTime(),event:'gtm.js'});var f=d.getElementsByTagName(s)[0],j=d.createElement(s),dl=l!='dataLayer'?'&l='+l:'';j.async=true;j.src='https://www.googletagmanager.com/gtm.js?id='+i+dl;f.parentNode.insertBefore(j,f);})(window,document,'script','dataLayer','GTM-K279D39R'); Browse Preprints In Review Journals COVID-19 Preprints AJE Video Bytes Research Tools Research Promotion AJE Professional Editing AJE Rubriq About Preprint Platform In Review Editorial Policies Our Team Advisory Board Help Center Sign In Submit a Preprint Cite Share Download PDF Case Report Persistent foetal vasculature with anterior retinal extension, anterior vitreous extension, and morning glory syndrome: A hypothesis-generating ocular dysgenesis association Omer Othman Abdullah This is a preprint; it has not been peer reviewed by a journal. https://doi.org/ 10.21203/rs.3.rs-8997631/v1 This work is licensed under a CC BY 4.0 License Status: Under Review Version 1 posted 7 You are reading this latest preprint version Abstract This case report describes a rare combination of persistent foetal vasculature, morning glory syndrome, anterior retinal extension, and anterior vitreous extension in a 3-month-old baby with congenital cataract. This constellation complicates clinical evaluation, surgical management, and functional and anatomical outcomes. The present case report highlights the significance of identifying multiple abnormalities before undertaking congenital cataract surgery. Families must be informed about these components before surgery. The name hypothesis-generating ocular dysgenesis association would be more appropriate for characterising this constellation of symptoms. anterior retinal extension anterior vitreous extension morning glory syndrome hypothesis-generating ocular dysgenesis association persistent foetal vasculature Figures Figure 1 Figure 2 Figure 3 Introduction Persistent foetal vasculature (PFV) 1 , 4 , 5 is a congenital anomaly arising from incomplete regression of the hyaloid artery and associated tissues. This causes various conditions, including cataracts, retinal dysplasia, and possibly retinal detachment. 1 The morning glory syndrome (MGS), 2 a rare congenital condition affecting the optic disc, is characterised by a cone-shaped depression in the optic nerve head, peripapillary colour changes, and abnormally emerging retinal blood vessels. 2 Ozdek et al. observed an association of finger-like anterior retinal extension (ARE) 1 , 4 with PFV incidence. Fei et al. reported a link between MGS and anterior vitreous extension (AVE). 2 Most of these conditions are rare, and their occurrence in a single patient has not been reported. This constellation represents a hypothesis-generating ocular dysgenesis association. Although cases of PFV with ARE or MGS 2 , 6 with AVE have been recorded, the coexistence of all four defects in a single patient has not previously been described. The closest known findings are those by Ozdek et al., who identified ARE in patients with PFV, and Fei et al., who reported the presence of AVE in a patient with MGS. However, neither study examined these features collectively, highlighting a gap in the literature and supporting their consideration as a hypothesis-generating association. The motivation to report this case stems from the uncertainty surrounding the clinical implications of such combined anomalies, particularly regarding diagnostic evaluation, surgical planning, and prognosis. This report presents a unique case of a 3-month-old infant with PFV, MGS, ARE, and AVE in association with congenital cataract. The importance of this report lies in emphasising the need to recognise multiple coexisting anomalies before congenital cataract surgery, and consider the broader classification under a hypothesis-generating ocular dysgenesis association. Case presentation A 3-month-old full-term male born without complication was brought to the clinic for leukocoria in his right eye, noted since birth. The parents reported first-degree consanguinity; he was their first baby. The patient had no history of trauma, grave systemic diseases, or ocular anomalies attributed to developmental abnormalities. During examination, the child followed the light only with the leukocoric eye when the normal eye was covered. The cornea and anterior chamber were clear, and intraocular pressure was within normal limits on rebound tonometry. Media clarity was insufficient upon fundus examination; thus, a B-scan was performed, revealing a linear band-like hyperreflective echo emerging from the optic nerve to the lens (Fig. 2 C). Electrophysiological testing under sedation revealed markedly reduced scotopic and photopic responses on electroretinography (ERG) and delayed latencies on visual evoked potentials (VEP), suggesting severe retinal and optic nerve dysfunction (Fig. 3 A–C). Under general anaesthesia, two ports were used to access the anterior chamber. Lensectomy was completed, revealing anterior PFV attachment to the back of the posterior capsule. Thus, 25-gauge trocars were placed in the limbus instead of the pars plana to reduce the risk of retinal detachment, given the potentially abnormal peripheral retina associated with PFV. However, a combination of PFV, 1,4,5 MGS, and ARE, along with AVE (Figs. 2 A, B, and D), was evident. The PFV was excised near the optic nerve head. Performing posterior vitreous duction was challenging (Video 1); several radial retinal folds were observed around the optic disc (Fig. 2 B). The ARE was overlying the ciliary processes (Fig. 1 B). Fortunately, the insertion of trocars limbally prevented any iatrogenic injury to the retina (Video 1). Concurrent AVE and a large ARE overlying the ciliary processes are rare (Figs. 1 A and B). The patient was aphakic and postoperatively treated with topical steroids, antibiotics, and cycloplegics. In the 10-month follow-up, the patient remained aphakic, devoid of structural defects. The combination of defects renders long-term visual prognosis 7 questionable, particularly given the severely abnormal ERG and VEP findings (Fig. 3 A–C), indicating profound retinal and optic nerve dysfunction. Amblyopia and diminished visual potential are highly likely. Patching therapy was initiated, and early visual rehabilitation with low vision aids is planned. Secondary intraocular lens implantation will also be considered in future follow-ups to maximise remaining visual potential. Discussion This case illustrates a rare constellation of PFV, ARE, AVE, and MGS in a 3-month-old infant with congenital cataract. To the best of our knowledge, this is the first reported case combining all four anomalies, emphasising the novelty of this report. The concurrent anomalies in one patient suggest a developmental defect affecting both anterior and posterior segments, representing a hypothesis-generating association within the ocular dysgenesis spectrum, 1,2,3 and the surgical challenges encountered. PFV results from a persistent hyaloid artery during embryogenesis and is often linked to microphthalmia, cataract, and retinal traction. 4 Recent studies have connected PFV to ARE, complicating surgical approaches, particularly trocar placement. 1 Similarly, MGS—resulting from posterior scleral wall closure failure—has been associated with AVE, suggesting broader morphogenetic disruption. 2 Together, they support a cohesive pathophysiological link between these anomalies. 3 From a surgical perspective, ARE and AVE create unique challenges. Conventional trocar sites overlap areas of retinal extension, elevating the iatrogenic risk as highlighted in previous PFV surgical reports. 4 , 5 In this patient, preoperative imaging and limbal trocar placement minimised complications. 6 Advanced imaging tools, including ultrasound biomicroscopy or intraoperative optical coherence tomography, may enhance surgical safety. 7 Fluid-air exchange during vitrectomy has also been associated with visual field loss and retinal damage, underscoring the importance of careful intraoperative fluid management. 8 The markedly abnormal ERG and VEP findings reflect severe retinal and optic nerve dysfunction, potentially influencing long-term visual outcomes. Families should be counselled on the likelihood of multiple interventions and a guarded prognosis. This study has limitations. Being a single case, the generalisability of findings is restricted, and long-term visual outcomes cannot yet be fully determined. Further case reports are warranted to determine whether this combination represents a consistent phenotypic pattern or a severe manifestation within the known ocular dysgenesis spectrum. Future studies should incorporate multicentre registries, advanced imaging integration, and refined surgical strategies to improve understanding and management of such complex developmental presentations. Conclusion This case highlights an exceptionally rare constellation of PFV, MGS, ARE, and AVE. The findings suggest a hypothesis-generating association within the ocular dysgenesis spectrum in a single patient. Meticulous preoperative planning and tailored surgical strategies are critical for managing such complex presentations. Declarations Financial disclosure The authors declare that they have no competing interests. Ethical Approval: Written informed consent was obtained from the patient’s parents. Consent to Participate : Written informed consent to participate was obtained from the patient’s parents. Consent to Publish declaration : Written informed consent for publication of this case and accompanying images was obtained from the patient’s parents. Funding: None. Author Contribution O.O.A. conceived the study, collected and interpreted the clinical data, performed the surgical procedure, prepared the figures, and wrote and revised the manuscript. The author read and approved the final manuscript. Acknowledgements: Not applicable References Ozdek S, Ozdemir Zeydanli E, Atalay HT, et al. Anterior elongation of the retina in persistent fetal vasculature: emphasis on retinal complications. Eye (Lond). 2019;33:938–47. Fei P, Zhang Q, Li J, et al. Clinical characteristics and treatment of 22 eyes of morning glory syndrome associated with persistent hyperplastic primary vitreous. Br J Ophthalmol. 2013;97:1262–7. Azuma N, Yamaguchi Y, Handa H, et al. Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations. Am J Hum Genet. 2003;72:1565–70. Chen C, Xiao H, Ding X. Persistent Fetal Vasculature. Asia Pac J Ophthalmol (Phila). 2019;8:86–95. Orazbekov L, Kaidarova D, Babenko A, et al. Pediatric surgical outcomes of persistent fetal vasculature: a five-year retrospective study at a tertiary eye center in Kazakhstan. Open Ophthalmol J. 2023;18:e18743641302338. Prakhunhungsit S, Berrocal AM. Diagnostic and management strategies in patients with persistent fetal vasculature: current insights. Clin Ophthalmol. 2020;Volume:4325–35. Akin Turan N, Yilmaz C, Özturk Y, et al. Persistent fetal vasculature: current insights and future directions. Eye (Lond). 2024;38:445–56. Melberg NS, Thomas MA. Visual field loss after pars plana vitrectomy with air/fluid exchange. Am J Ophthalmol. 1995;120:386–8. Additional Declarations No competing interests reported. Supplementary Files SurgicalVideo1.Additionalfile.MP4.mp4 Video legend Video 1. Posterior capsulectomy and removal of persistent foetal vasculature. Cite Share Download PDF Status: Under Review Version 1 posted Reviewers agreed at journal 11 May, 2026 Reviewers agreed at journal 18 Apr, 2026 Reviewers invited by journal 16 Mar, 2026 Editor invited by journal 03 Mar, 2026 Editor assigned by journal 02 Mar, 2026 Submission checks completed at journal 02 Mar, 2026 First submitted to journal 28 Feb, 2026 You are reading this latest preprint version Research Square lets you share your work early, gain feedback from the community, and start making changes to your manuscript prior to peer review in a journal. As a division of Research Square Company, we’re committed to making research communication faster, fairer, and more useful. We do this by developing innovative software and high quality services for the global research community. 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Also discoverable on Platform About Our Team In Review Editorial Policies Advisory Board Help Center Resources Author Services Accessibility API Access RSS feed Manage Cookie Preferences © Research Square 2026 | ISSN 2693-5015 (online) Privacy Policy Terms of Service Do Not Sell My Personal Information {"props":{"pageProps":{"initialData":{"identity":"rs-8997631","acceptedTermsAndConditions":true,"allowDirectSubmit":false,"archivedVersions":[],"articleType":"Case Report","associatedPublications":[],"authors":[{"id":607257460,"identity":"54f9b05a-45f0-4071-bec5-0d20590d71ba","order_by":0,"name":"Omer Othman Abdullah","email":"data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAZAAAAAyAQMAAABI0h/eAAAABlBMVEX///8AAABVwtN+AAAACXBIWXMAAA7EAAAOxAGVKw4bAAAAxElEQVRIiWNgGAWjYLCCDwYHeBgYGBuI18E4g2QtzDwMB0hwE7/Y4WOfbQruyJjzH2578IPBJl/egYAWydlpybNzDJ7xWM5IbDfsYUiz3EjIRoPbOcbMOQaHeQxuMLZJ8DAcNjBsIKgl/zOzBUjL+YNtkn+I05LDzMwA0nIgsU0aZIs8AR0gvxgz9gD9YnADqEXGIM3AgJAWfunkxww//tyxNzh//JnkmwobA3lCDkN3JxAdIE0LEJBqyygYBaNgFAx/AADUSzxg39w+YwAAAABJRU5ErkJggg==","orcid":"","institution":"Ibinsina Modern Eye and Retina Center","correspondingAuthor":true,"prefix":"","firstName":"Omer","middleName":"Othman","lastName":"Abdullah","suffix":""}],"badges":[],"createdAt":"2026-02-28 19:38:18","currentVersionCode":1,"declarations":"","doi":"10.21203/rs.3.rs-8997631/v1","doiUrl":"https://doi.org/10.21203/rs.3.rs-8997631/v1","draftVersion":[],"editorialEvents":[],"editorialNote":"","failedWorkflow":false,"files":[{"id":104996860,"identity":"4445b0bd-fbc5-4ce4-a954-50eb9586f60e","added_by":"auto","created_at":"2026-03-19 16:16:42","extension":"png","order_by":1,"title":"Figure 1","display":"","copyAsset":false,"role":"figure","size":6912770,"visible":true,"origin":"","legend":"\u003cp\u003eColour images during pars plana vitrectomy. \u003cstrong\u003eA-\u003c/strong\u003eFinger-like retinal extension (dark star), with vitreous extension (yellow arrows), as well as retinal extension to the iris root (yellow star). \u003cstrong\u003eB-\u003c/strong\u003eVitreous extension over the iris root (yellow arrows), retinal extension to the iris root (dark star), and stunted ciliary processes covered by vitreous with adjacent retinal extension (white star).\u003c/p\u003e","description":"","filename":"Figure1.Colorimagesduringparsplanavitrectomy..png","url":"https://assets-eu.researchsquare.com/files/rs-8997631/v1/ffc2a703f7829038bc2162a5.png"},{"id":104996859,"identity":"6cbdadd0-8c2a-4233-ba04-dd5db4c2dad0","added_by":"auto","created_at":"2026-03-19 16:16:42","extension":"png","order_by":2,"title":"Figure 2","display":"","copyAsset":false,"role":"figure","size":6757742,"visible":true,"origin":"","legend":"\u003cp\u003ePanoramic intraoperative images. \u003cstrong\u003eA-\u003c/strong\u003eFinger-like retinal extension (dark star) with vitreous extension (yellow arrows) and morning glory syndrome (MGS, yellow star). \u003cstrong\u003eB-\u003c/strong\u003e Persistent foetal vasculature (yellow arrows). \u003cstrong\u003eC-\u003c/strong\u003e Linear hyperreflective echoes from the optic nerve to the lens (two yellow arrows). \u003cstrong\u003eD-\u003c/strong\u003e Radial retinal folds (white arrows) and MGS (yellow star).\u003c/p\u003e","description":"","filename":"Figure2.Panoramicintraoperativeimages..png","url":"https://assets-eu.researchsquare.com/files/rs-8997631/v1/e1800985d6c6e25d366421ee.png"},{"id":104996858,"identity":"1929c67e-e24b-4a26-aa58-f8195c973aaa","added_by":"auto","created_at":"2026-03-19 16:16:42","extension":"png","order_by":3,"title":"Figure 3","display":"","copyAsset":false,"role":"figure","size":2574234,"visible":true,"origin":"","legend":"\u003cp\u003eElectrophysiological recordings. \u003cstrong\u003eA, B\u003c/strong\u003e- Full-field electroretinography.\u003cbr\u003e\n \u003cstrong\u003eC-\u003c/strong\u003e Flash visual evoked potential demonstrating delayed P100 latency and reduced amplitude, consistent with optic nerve dysfunction.\u003c/p\u003e","description":"","filename":"Figure3.ElectrophysiologicalrecordingsbothERGandVEP..png","url":"https://assets-eu.researchsquare.com/files/rs-8997631/v1/664dec1a4c0d974207452ae4.png"},{"id":104996957,"identity":"8ac7d174-2052-4b05-96fd-de8b5b706bb6","added_by":"auto","created_at":"2026-03-19 16:17:00","extension":"pdf","order_by":0,"title":"","display":"","copyAsset":false,"role":"manuscript-pdf","size":15490702,"visible":true,"origin":"","legend":"","description":"","filename":"manuscript.pdf","url":"https://assets-eu.researchsquare.com/files/rs-8997631/v1/6a6c43ee-b158-439f-a4c6-dbcefc0cdf03.pdf"},{"id":104996861,"identity":"ed9de9c7-6e28-4cba-b684-075cb6348fc8","added_by":"auto","created_at":"2026-03-19 16:16:44","extension":"mp4","order_by":1,"title":"","display":"","copyAsset":false,"role":"supplement","size":53849877,"visible":true,"origin":"","legend":"\u003cp\u003e\u003cstrong\u003eVideo legend\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eVideo 1. \u003c/strong\u003ePosterior capsulectomy and removal of persistent foetal vasculature.\u003c/p\u003e","description":"","filename":"SurgicalVideo1.Additionalfile.MP4.mp4","url":"https://assets-eu.researchsquare.com/files/rs-8997631/v1/b235b0498178ecc7433d9cb0.mp4"}],"financialInterests":"No competing interests reported.","formattedTitle":"Persistent foetal vasculature with anterior retinal extension, anterior vitreous extension, and morning glory syndrome: A hypothesis-generating ocular dysgenesis association","fulltext":[{"header":"Introduction","content":"\u003cp\u003ePersistent foetal vasculature (PFV)\u003csup\u003e\u003cb\u003e\u003cspan citationid=\"CR1\" class=\"CitationRef\"\u003e1\u003c/span\u003e,\u003cspan citationid=\"CR4\" class=\"CitationRef\"\u003e4\u003c/span\u003e,\u003cspan citationid=\"CR5\" class=\"CitationRef\"\u003e5\u003c/span\u003e\u003c/b\u003e\u003c/sup\u003e is a congenital anomaly arising from incomplete regression of the hyaloid artery and associated tissues. This causes various conditions, including cataracts, retinal dysplasia, and possibly retinal detachment.\u003csup\u003e\u003cb\u003e\u003cspan citationid=\"CR1\" class=\"CitationRef\"\u003e1\u003c/span\u003e\u003c/b\u003e\u003c/sup\u003e The morning glory syndrome (MGS),\u003csup\u003e\u003cb\u003e2\u003c/b\u003e\u003c/sup\u003e a rare congenital condition affecting the optic disc, is characterised by a cone-shaped depression in the optic nerve head, peripapillary colour changes, and abnormally emerging retinal blood vessels.\u003csup\u003e\u003cb\u003e\u003cspan citationid=\"CR2\" class=\"CitationRef\"\u003e2\u003c/span\u003e\u003c/b\u003e\u003c/sup\u003e Ozdek et al. observed an association of finger-like anterior retinal extension (ARE)\u003csup\u003e\u003cb\u003e\u003cspan citationid=\"CR1\" class=\"CitationRef\"\u003e1\u003c/span\u003e,\u003cspan citationid=\"CR4\" class=\"CitationRef\"\u003e4\u003c/span\u003e\u003c/b\u003e\u003c/sup\u003e with PFV incidence. Fei et al. reported a link between MGS and anterior vitreous extension (AVE).\u003csup\u003e\u003cb\u003e\u003cspan citationid=\"CR2\" class=\"CitationRef\"\u003e2\u003c/span\u003e\u003c/b\u003e\u003c/sup\u003e Most of these conditions are rare, and their occurrence in a single patient has not been reported. This constellation represents a hypothesis-generating ocular dysgenesis association.\u003c/p\u003e \u003cp\u003eAlthough cases of PFV with ARE or MGS\u003csup\u003e\u003cb\u003e\u003cspan citationid=\"CR2\" class=\"CitationRef\"\u003e2\u003c/span\u003e,\u003cspan citationid=\"CR6\" class=\"CitationRef\"\u003e6\u003c/span\u003e\u003c/b\u003e\u003c/sup\u003e with AVE have been recorded, the coexistence of all four defects in a single patient has not previously been described. The closest known findings are those by Ozdek et al., who identified ARE in patients with PFV, and Fei et al., who reported the presence of AVE in a patient with MGS. However, neither study examined these features collectively, highlighting a gap in the literature and supporting their consideration as a hypothesis-generating association.\u003c/p\u003e \u003cp\u003eThe motivation to report this case stems from the uncertainty surrounding the clinical implications of such combined anomalies, particularly regarding diagnostic evaluation, surgical planning, and prognosis.\u003c/p\u003e \u003cp\u003eThis report presents a unique case of a 3-month-old infant with PFV, MGS, ARE, and AVE in association with congenital cataract.\u003c/p\u003e \u003cp\u003eThe importance of this report lies in emphasising the need to recognise multiple coexisting anomalies before congenital cataract surgery, and consider the broader classification under a hypothesis-generating ocular dysgenesis association.\u003c/p\u003e"},{"header":"Case presentation","content":"\u003cp\u003eA 3-month-old full-term male born without complication was brought to the clinic for leukocoria in his right eye, noted since birth. The parents reported first-degree consanguinity; he was their first baby. The patient had no history of trauma, grave systemic diseases, or ocular anomalies attributed to developmental abnormalities. During examination, the child followed the light only with the leukocoric eye when the normal eye was covered. The cornea and anterior chamber were clear, and intraocular pressure was within normal limits on rebound tonometry. Media clarity was insufficient upon fundus examination; thus, a B-scan was performed, revealing a linear band-like hyperreflective echo emerging from the optic nerve to the lens (Fig.\u0026nbsp;\u003cspan refid=\"Fig1\" class=\"InternalRef\"\u003e2\u003c/span\u003eC). Electrophysiological testing under sedation revealed markedly reduced scotopic and photopic responses on electroretinography (ERG) and delayed latencies on visual evoked potentials (VEP), suggesting severe retinal and optic nerve dysfunction (Fig.\u0026nbsp;\u003cspan refid=\"Fig2\" class=\"InternalRef\"\u003e3\u003c/span\u003eA\u0026ndash;C).\u003c/p\u003e \u003cp\u003e \u003c/p\u003e \u003cp\u003e \u003c/p\u003e \u003cp\u003eUnder general anaesthesia, two ports were used to access the anterior chamber. Lensectomy was completed, revealing anterior PFV attachment to the back of the posterior capsule. Thus, 25-gauge trocars were placed in the limbus instead of the pars plana to reduce the risk of retinal detachment, given the potentially abnormal peripheral retina associated with PFV. However, a combination of PFV,\u003csup\u003e\u003cb\u003e1,4,5\u003c/b\u003e\u003c/sup\u003e MGS, and ARE, along with AVE (Figs.\u0026nbsp;\u003cspan refid=\"Fig1\" class=\"InternalRef\"\u003e2\u003c/span\u003eA, B, and D), was evident. The PFV was excised near the optic nerve head. Performing posterior vitreous duction was challenging (Video 1); several radial retinal folds were observed around the optic disc (Fig.\u0026nbsp;\u003cspan refid=\"Fig1\" class=\"InternalRef\"\u003e2\u003c/span\u003eB). The ARE was overlying the ciliary processes (Fig.\u0026nbsp;\u003cspan refid=\"Fig3\" class=\"InternalRef\"\u003e1\u003c/span\u003eB). Fortunately, the insertion of trocars limbally prevented any iatrogenic injury to the retina (Video 1). Concurrent AVE and a large ARE overlying the ciliary processes are rare (Figs.\u0026nbsp;\u003cspan refid=\"Fig3\" class=\"InternalRef\"\u003e1\u003c/span\u003eA and B). The patient was aphakic and postoperatively treated with topical steroids, antibiotics, and cycloplegics. In the 10-month follow-up, the patient remained aphakic, devoid of structural defects. The combination of defects renders long-term visual prognosis\u003csup\u003e\u003cb\u003e\u003cspan citationid=\"CR7\" class=\"CitationRef\"\u003e7\u003c/span\u003e\u003c/b\u003e\u003c/sup\u003e questionable, particularly given the severely abnormal ERG and VEP findings (Fig.\u0026nbsp;\u003cspan refid=\"Fig2\" class=\"InternalRef\"\u003e3\u003c/span\u003eA\u0026ndash;C), indicating profound retinal and optic nerve dysfunction. Amblyopia and diminished visual potential are highly likely. Patching therapy was initiated, and early visual rehabilitation with low vision aids is planned. Secondary intraocular lens implantation will also be considered in future follow-ups to maximise remaining visual potential.\u003c/p\u003e \u003cp\u003e \u003c/p\u003e"},{"header":"Discussion","content":"\u003cp\u003eThis case illustrates a rare constellation of PFV, ARE, AVE, and MGS in a 3-month-old infant with congenital cataract. To the best of our knowledge, this is the first reported case combining all four anomalies, emphasising the novelty of this report. The concurrent anomalies in one patient suggest a developmental defect affecting both anterior and posterior segments, representing a hypothesis-generating association within the ocular dysgenesis spectrum,\u003csup\u003e\u003cb\u003e1,2,3\u003c/b\u003e\u003c/sup\u003e and the surgical challenges encountered.\u003c/p\u003e \u003cp\u003ePFV results from a persistent hyaloid artery during embryogenesis and is often linked to microphthalmia, cataract, and retinal traction.\u003csup\u003e\u003cb\u003e\u003cspan citationid=\"CR4\" class=\"CitationRef\"\u003e4\u003c/span\u003e\u003c/b\u003e\u003c/sup\u003e Recent studies have connected PFV to ARE, complicating surgical approaches, particularly trocar placement.\u003csup\u003e\u003cb\u003e\u003cspan citationid=\"CR1\" class=\"CitationRef\"\u003e1\u003c/span\u003e\u003c/b\u003e\u003c/sup\u003e Similarly, MGS\u0026mdash;resulting from posterior scleral wall closure failure\u0026mdash;has been associated with AVE, suggesting broader morphogenetic disruption.\u003csup\u003e\u003cb\u003e\u003cspan citationid=\"CR2\" class=\"CitationRef\"\u003e2\u003c/span\u003e\u003c/b\u003e\u003c/sup\u003e\u003c/p\u003e \u003cp\u003eTogether, they support a cohesive pathophysiological link between these anomalies.\u003csup\u003e\u003cb\u003e\u003cspan citationid=\"CR3\" class=\"CitationRef\"\u003e3\u003c/span\u003e\u003c/b\u003e\u003c/sup\u003e\u003c/p\u003e \u003cp\u003eFrom a surgical perspective, ARE and AVE create unique challenges. Conventional trocar sites overlap areas of retinal extension, elevating the iatrogenic risk as highlighted in previous PFV surgical reports.\u003csup\u003e\u003cb\u003e\u003cspan citationid=\"CR4\" class=\"CitationRef\"\u003e4\u003c/span\u003e,\u003cspan citationid=\"CR5\" class=\"CitationRef\"\u003e5\u003c/span\u003e\u003c/b\u003e\u003c/sup\u003e In this patient, preoperative imaging and limbal trocar placement minimised complications.\u003csup\u003e\u003cb\u003e\u003cspan citationid=\"CR6\" class=\"CitationRef\"\u003e6\u003c/span\u003e\u003c/b\u003e\u003c/sup\u003e Advanced imaging tools, including ultrasound biomicroscopy or intraoperative optical coherence tomography, may enhance surgical safety.\u003csup\u003e\u003cb\u003e\u003cspan citationid=\"CR7\" class=\"CitationRef\"\u003e7\u003c/span\u003e\u003c/b\u003e\u003c/sup\u003e Fluid-air exchange during vitrectomy has also been associated with visual field loss and retinal damage, underscoring the importance of careful intraoperative fluid management.\u003csup\u003e\u003cb\u003e\u003cspan citationid=\"CR8\" class=\"CitationRef\"\u003e8\u003c/span\u003e\u003c/b\u003e\u003c/sup\u003e\u003c/p\u003e \u003cp\u003eThe markedly abnormal ERG and VEP findings reflect severe retinal and optic nerve dysfunction, potentially influencing long-term visual outcomes. Families should be counselled on the likelihood of multiple interventions and a guarded prognosis.\u003c/p\u003e \u003cp\u003eThis study has limitations. Being a single case, the generalisability of findings is restricted, and long-term visual outcomes cannot yet be fully determined.\u003c/p\u003e \u003cp\u003eFurther case reports are warranted to determine whether this combination represents a consistent phenotypic pattern or a severe manifestation within the known ocular dysgenesis spectrum.\u003c/p\u003e \u003cp\u003eFuture studies should incorporate multicentre registries, advanced imaging integration, and refined surgical strategies to improve understanding and management of such complex developmental presentations.\u003c/p\u003e"},{"header":"Conclusion","content":"\u003cp\u003eThis case highlights an exceptionally rare constellation of PFV, MGS, ARE, and AVE. The findings suggest a hypothesis-generating association within the ocular dysgenesis spectrum in a single patient. Meticulous preoperative planning and tailored surgical strategies are critical for managing such complex presentations.\u003c/p\u003e"},{"header":"Declarations","content":"\u003cp\u003e \u003ch2\u003eFinancial disclosure\u003c/h2\u003e \u003cp\u003eThe authors declare that they have no competing interests.\u003c/p\u003e \u003c/p\u003e \u003cp\u003e \u003cstrong\u003eEthical Approval:\u003c/strong\u003e \u003cp\u003e Written informed consent was obtained from the patient\u0026rsquo;s parents.\u003c/p\u003e \u003c/p\u003e \u003cp\u003e \u003cb\u003eConsent to Participate \u003c/b\u003e: Written informed consent to participate was obtained from the patient\u0026rsquo;s parents.\u003c/p\u003e \u003c/p\u003e \u003cp\u003e \u003cb\u003eConsent to Publish declaration\u003c/b\u003e: Written informed consent for publication of this case and accompanying images was obtained from the patient\u0026rsquo;s parents.\u003c/p\u003e \u003c/p\u003e\u003ch2\u003eFunding:\u003c/h2\u003e \u003cp\u003eNone.\u003c/p\u003e\u003ch2\u003eAuthor Contribution\u003c/h2\u003e\u003cp\u003eO.O.A. conceived the study, collected and interpreted the clinical data, performed the surgical procedure, prepared the figures, and wrote and revised the manuscript. The author read and approved the final manuscript.\u003c/p\u003e\u003ch2\u003eAcknowledgements:\u003c/h2\u003e \u003cp\u003eNot applicable\u003c/p\u003e"},{"header":"References","content":"\u003col\u003e\u003cli\u003e\u003cspan\u003eOzdek S, Ozdemir Zeydanli E, Atalay HT, et al. Anterior elongation of the retina in persistent fetal vasculature: emphasis on retinal complications. Eye (Lond). 2019;33:938\u0026ndash;47.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eFei P, Zhang Q, Li J, et al. Clinical characteristics and treatment of 22 eyes of morning glory syndrome associated with persistent hyperplastic primary vitreous. Br J Ophthalmol. 2013;97:1262\u0026ndash;7.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eAzuma N, Yamaguchi Y, Handa H, et al. Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations. Am J Hum Genet. 2003;72:1565\u0026ndash;70.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eChen C, Xiao H, Ding X. Persistent Fetal Vasculature. Asia Pac J Ophthalmol (Phila). 2019;8:86\u0026ndash;95.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eOrazbekov L, Kaidarova D, Babenko A, et al. Pediatric surgical outcomes of persistent fetal vasculature: a five-year retrospective study at a tertiary eye center in Kazakhstan. Open Ophthalmol J. 2023;18:e18743641302338.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003ePrakhunhungsit S, Berrocal AM. Diagnostic and management strategies in patients with persistent fetal vasculature: current insights. Clin Ophthalmol. 2020;Volume:4325\u0026ndash;35.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eAkin Turan N, Yilmaz C, \u0026Ouml;zturk Y, et al. Persistent fetal vasculature: current insights and future directions. Eye (Lond). 2024;38:445\u0026ndash;56.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eMelberg NS, Thomas MA. Visual field loss after pars plana vitrectomy with air/fluid exchange. Am J Ophthalmol. 1995;120:386\u0026ndash;8.\u003c/span\u003e\u003c/li\u003e\u003c/ol\u003e"}],"fulltextSource":"","fullText":"","funders":[],"hasAdminPriorityOnWorkflow":false,"hasManuscriptDocX":true,"hasOptedInToPreprint":true,"hasPassedJournalQc":"","hasAnyPriority":false,"hideJournal":false,"highlight":"","institution":"","isAcceptedByJournal":false,"isAuthorSuppliedPdf":false,"isDeskRejected":"","isHiddenFromSearch":false,"isInQc":false,"isInWorkflow":false,"isPdf":false,"isPdfUpToDate":true,"isWithdrawnOrRetracted":false,"journal":{"display":true,"email":"[email protected]","identity":"bmc-ophthalmology","isNatureJournal":false,"hasQc":true,"allowDirectSubmit":false,"externalIdentity":"boph","sideBox":"Learn more about [BMC Ophthalmology](http://bmcophthalmol.biomedcentral.com/)","snPcode":"","submissionUrl":"https://www.editorialmanager.com/boph","title":"BMC Ophthalmology","twitterHandle":"BMC_series","acdcEnabled":true,"dfaEnabled":false,"editorialSystem":"em","reportingPortfolio":"BMC Series","inReviewEnabled":true,"inReviewRevisionsEnabled":true},"keywords":"anterior retinal extension, anterior vitreous extension, morning glory syndrome, hypothesis-generating ocular dysgenesis association, persistent foetal vasculature","lastPublishedDoi":"10.21203/rs.3.rs-8997631/v1","lastPublishedDoiUrl":"https://doi.org/10.21203/rs.3.rs-8997631/v1","license":{"name":"CC BY 4.0","url":"https://creativecommons.org/licenses/by/4.0/"},"manuscriptAbstract":"\u003cp\u003eThis case report describes a rare combination of persistent foetal vasculature, morning glory syndrome, anterior retinal extension, and anterior vitreous extension in a 3-month-old baby with congenital cataract.\u003c/p\u003e \u003cp\u003eThis constellation complicates clinical evaluation, surgical management, and functional and anatomical outcomes. The present case report highlights the significance of identifying multiple abnormalities before undertaking congenital cataract surgery. Families must be informed about these components before surgery. The name hypothesis-generating ocular dysgenesis association would be more appropriate for characterising this constellation of symptoms.\u003c/p\u003e","manuscriptTitle":"Persistent foetal vasculature with anterior retinal extension, anterior vitreous extension, and morning glory syndrome: A hypothesis-generating ocular dysgenesis association","msid":"","msnumber":"","nonDraftVersions":[{"code":1,"date":"2026-03-19 16:16:37","doi":"10.21203/rs.3.rs-8997631/v1","editorialEvents":[{"type":"communityComments","content":0},{"type":"reviewerAgreed","content":"155419093049282556398580273245753559812","date":"2026-05-11T17:52:36+00:00","index":"hide","fulltext":""},{"type":"reviewerAgreed","content":"42244723046046281027881690008402598946","date":"2026-04-18T13:45:29+00:00","index":"hide","fulltext":""},{"type":"reviewersInvited","content":"","date":"2026-03-17T02:09:38+00:00","index":"","fulltext":""},{"type":"editorInvited","content":"","date":"2026-03-03T05:23:28+00:00","index":"","fulltext":""},{"type":"editorAssigned","content":"","date":"2026-03-02T09:24:01+00:00","index":"","fulltext":""},{"type":"checksComplete","content":"","date":"2026-03-02T09:23:49+00:00","index":"","fulltext":""},{"type":"submitted","content":"BMC Ophthalmology","date":"2026-02-28T19:34:49+00:00","index":"","fulltext":""}],"status":"published","journal":{"display":true,"email":"[email protected]","identity":"bmc-ophthalmology","isNatureJournal":false,"hasQc":true,"allowDirectSubmit":false,"externalIdentity":"boph","sideBox":"Learn more about [BMC Ophthalmology](http://bmcophthalmol.biomedcentral.com/)","snPcode":"","submissionUrl":"https://www.editorialmanager.com/boph","title":"BMC Ophthalmology","twitterHandle":"BMC_series","acdcEnabled":true,"dfaEnabled":false,"editorialSystem":"em","reportingPortfolio":"BMC Series","inReviewEnabled":true,"inReviewRevisionsEnabled":true}}],"origin":"","ownerIdentity":"3a50ee48-d715-4f58-bf3c-b282a8c1d25b","owner":[],"postedDate":"March 19th, 2026","published":true,"recentEditorialEvents":[{"type":"reviewerAgreed","content":"155419093049282556398580273245753559812","date":"2026-05-11T17:52:36+00:00","index":39,"fulltext":""}],"rejectedJournal":[],"revision":"","amendment":"","status":"under-review","subjectAreas":[],"tags":[],"updatedAt":"2026-03-19T16:16:37+00:00","versionOfRecord":[],"versionCreatedAt":"2026-03-19 16:16:37","video":"","vorDoi":"","vorDoiUrl":"","workflowStages":[]},"version":"v1","identity":"rs-8997631","journalConfig":"researchsquare"},"__N_SSP":true},"page":"/article/[identity]/[[...version]]","query":{"redirect":"/article/rs-8997631","identity":"rs-8997631","version":["v1"]},"buildId":"XKTyCvWXoU3ODBz1xrDgd","isFallback":false,"isExperimentalCompile":false,"dynamicIds":[84888],"gssp":true,"scriptLoader":[]}