A Case for Increasing the Significance of Choroidal Abnormalities in Ophthalmic Assessment of Neurofibromatosis Type 1

A Case for Increasing the Significance of Choroidal Abnormalities in Ophthalmic Assessment of Neurofibromatosis Type 1 | 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 A Case for Increasing the Significance of Choroidal Abnormalities in Ophthalmic Assessment of Neurofibromatosis Type 1 Rochile Khan, Peter Maduka, Florence Tsipenyuk This is a preprint; it has not been peer reviewed by a journal. https://doi.org/ 10.21203/rs.3.rs-5686307/v1 This work is licensed under a CC BY 4.0 License Status: Posted Version 1 posted You are reading this latest preprint version Abstract Neurofibromatosis type 1 (NF1) is a genetic disorder linked to various ocular manifestations, including optic nerve gliomas, prominent corneal nerves, neurofibromas, secondary glaucoma, astrocytomas, choroidal nevi, and Lisch nodules. The identification of choroidal abnormalities (CAs) has gained attention as a significant ocular feature of NF1. This case report highlights a patient with NF1 whose sole ocular manifestation was the presence of CAs. The CAs were visible on optic coherence tomography (OCT) and near-infrared reflectance (NIR) imaging. Neurofibromatosis 1 Choroidal abnormalities Melanocytes Optical coherence tomography imaging Near-infrared reflectance imaging Figures Figure 1 Introduction Neurofibromatosis type 1 (NF1) is a genetic disorder with an autosomal dominant pattern of inheritance. This condition arises from a mutation within the neurofibromatosis 1 gene on chromosome 17q11.2. This gene encodes neurofibromin, a GTPase-activating protein that modulates Ras as a tumor suppressor, playing an essential role in regulating cell growth. Dysregulation of this protein results in the overgrowth of neural crest-derived tissues [1]. These hamartomatous proliferations can affect the skin, eyes, and brain, and may lead to benign and malignant tumors. Ocular manifestations of NF1 have been extensively documented, for example, Lisch nodules on the iris were first identified by Karl Lisch in 1937 as a key diagnostic criterion for NF1. By the early 2010s, choroidal abnormalities (CAs) were recognized as another ocular finding in patients with NF1. Further research led to an update of NF1 diagnostic criteria in 2021, including CAs based on the high specificity and sensitivity of their presence, comparable to that of Lisch nodules [2, 3]. The revised diagnostic criterion involves the findings of two or more choroidal abnormalities, observed on optic coherence tomography (OCT) and near-infrared reflectance (NIR) imaging as bright, patchy nodules. Case Report A 23-year-old female was diagnosed with NF1 within the previous year and presented to the clinic for a routine dilated fundus exam. Her diagnosis of NF1 was established through an abdominal mass biopsy that revealed a schwannoma, in conjunction with multiple cafe-au-lait spots, soft tissue lesions, and osseous masses found on MRI. Aside from occasional ocular surface dryness, the patient reported no visual symptoms. Findings from the external, slit lamp, and fundus exams were all unremarkable. The retina was flat without elevation, lesions or masses. There was an absence of retinal vascular abnormalities, eyelid neurofibromas, Lisch nodules, optic nerve lesions, and signs of elevation or edema. On OCT/NIR imaging, multiple bright, patchy lesions, localizing to the choroid were observed (Figures A-E) . The patient has no relevant family or personal medical history that adds significant information to this case. The patient was advised to return yearly for routine examination and surveillance. Discussion This report is being shared as a specific case of a patient with NF1 whose ophthalmic exam lacked Lisch nodules, while their OCT/NIR imaging distinctly reveals hyperreflective nodules suggestive of CAs. CAs seen in NF1 are due to the proliferation of Schwann cells and neural crest derived melanocytes [4, 5, 6]. Hence, similar to Lisch nodules, CAs can be categorized as hamartomatous lesions of neural crest-derived tissues attributed to NF1. Historically, Lisch nodules have been considered the primary ocular finding for diagnosing NF1, however, recent studies show that CAs are present in 80 –100% of NF1 cases, compared to a fewer than 80% prevalence of Lisch nodules [2, 3, 7]. In addition, a larger proportion of NF1 patients (up to 37%) exhibit choroidal abnormalities without the presence of Lisch nodules, whereas a smaller percentage of patients (16% or fewer) have Lisch nodules without concurrent choroidal abnormalities [2, 8]. This higher occurrence suggests that CAs may be more effective in confirming the ocular diagnosis of NF1. OCT/INR imaging can aid in the visualization of CAs. The expansion of melanocytes and neural crest cells result in choroidal thickening that leads to these findings visible on OCT. NIR has been shown to be helpful in identifying choroidal changes, particularly by providing enhanced visualization of deeper ocular structures. The increased melanin concentration increases the absorption of NIR light and causes backscattering, resulting in the bright patchy lesions [4, 9]. Vascular arcades maintain a thicker choroid and therefore a higher concentration of melanocytes. As such, it has been noted that choroidal abnormalities are more commonly found within choroidal vascular arcades [2, 9]. Additionally, some retinal microvasculature changes overlying choroidal nodules in NF1 have been noted. These represent an additional unique ocular feature in this condition. The role of angiogenic factors in these retinal microvascular changes have been hypothesized, but ultimately additional research is recommended to fully understand the correlation, clinical significance, and impact of these lesions on the adjacent retinochoroidal vasculature [2]. This case illustrates the presence of characteristic choroidal nodules in an individual with NF1, detectable through OCT even in the absence of other common ocular findings. Identifying CAs through OCT/NIR imaging can be helpful in diagnosing NF1 as these changes may be visible in children before Lisch nodules grow large enough to be visualized on the iris. While the extent of choroidal involvement and its potential effects on the retinal vasculature may change with age, further research is needed to establish this relationship. Declarations Ethics approval and consent to participate Informed consent was obtained from the patient included in the report. Consent for publication Informed consent was obtained from the patient included in the report. Availability of data and materials All data and materials of this case are available upon request. Funding Not applicable Competing interests Not applicable Authors' contributions PM provided the patient details for the case and procured the images. RK wrote the main manuscript text with assistance from FT and editing from PM. All authors reviewed the manuscript. Acknowledgements Not applicable References Gutmann DH, Aylsworth A, Carey JC, et al. The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2. Journal of the American Medical Association. 1997;278(1):51–57. Mallone F, Lucchino L, Giustini S, Lambiase A, Moramarco A. An update on choroidal abnormalities and retinal microvascular changes in neurofibromatosis type 1. Orphanet J Rare Dis. 2022 Jun 13;17(1):223. doi: 10.1186/s13023-022-02369-8. PMID: 35698197; PMCID: PMC9195315. Legius E, Messiaen L, Wolkenstein P, Pancza P, Avery RA, Berman Y, Blakeley J, Babovic-Vuksanovic D, Cunha KS, Ferner R, Fisher MJ, Friedman JM, Gutmann DH, Kehrer-Sawatzki H, Korf BR, Mautner VF, Peltonen S, Rauen KA, Riccardi V, Schorry E, Stemmer-Rachamimov A, Stevenson DA, Tadini G, Ullrich NJ, Viskochil D, Wimmer K, Yohay K; International Consensus Group on Neurofibromatosis Diagnostic Criteria (I-NF-DC); Huson SM, Evans DG, Plotkin SR. Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation. Genet Med. 2021 Aug;23(8):1506-1513. doi: 10.1038/s41436-021-01170-5. Epub 2021 May 19. PMID: 34012067; PMCID: PMC8354850. Makino S, Tampo H. Optical coherence tomography imaging of choroidal abnormalities in neurofibromatosis type 1. Case Rep Ophthalmol Med. 2013;2013:292981. doi: 10.1155/2013/292981. Epub 2013 Apr 22. PMID: 23710396; PMCID: PMC3654718. Abdolrahimzadeh S, Felli L, Piraino DC, Mollo R, Calvieri S, Recupero SM. Retinal microvascular abnormalities overlying choroidal nodules in neurofibromatosis type 1. BMC Ophthalmol. 2014 Nov 25;14:146. doi: 10.1186/1471-2415-14-146. PMID: 25424184; PMCID: PMC4258815. Klein RM, Glassman L. Neurofibromatosis of the choroid. Am J Ophthalmol. 1985 Mar 15;99(3):367-8. doi: 10.1016/0002-9394(85)90376-9. PMID: 3919589. Yasunari T, Shiraki K, Hattori H, Miki T. Frequency of choroidal abnormalities in neurofibromatosis type 1. Lancet. 2000 Sep 16;356(9234):988-92. doi: 10.1016/S0140-6736(00)02716-1. PMID: 11041400. Moramarco A, Giustini S, Nofroni I, Mallone F, Miraglia E, Iacovino C, Calvieri S, Lambiase A. Near-infrared imaging: an in vivo, non-invasive diagnostic tool in neurofibromatosis type 1. Graefes Arch Clin Exp Ophthalmol. 2018 Feb;256(2):307-311. doi: 10.1007/s00417-017-3870-z. Epub 2017 Dec 30. PMID: 29290016. Nakakura S, Shiraki K, Yasunari T, Hayashi Y, Ataka S, Kohno T. Quantification and anatomic distribution of choroidal abnormalities in patients with type I neurofibromatosis. Graefes Arch Clin Exp Ophthalmol. 2005 Oct;243(10):980-4. doi: 10.1007/s00417-005-1184-z. Epub 2005 Oct 20. PMID: 15891894. Additional Declarations No competing interests reported. Cite Share Download PDF Status: Posted Version 1 posted 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. Our growing team is made up of researchers and industry professionals working together to solve the most critical problems facing scientific publishing. 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-5686307","acceptedTermsAndConditions":true,"allowDirectSubmit":true,"archivedVersions":[],"articleType":"Case Report","associatedPublications":[],"authors":[{"id":437480994,"identity":"7ad9fdfe-fe86-46a8-b460-135ab58ebdc5","order_by":0,"name":"Rochile Khan","email":"data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAZAAAAAyAQMAAABI0h/eAAAABlBMVEX///8AAABVwtN+AAAACXBIWXMAAA7EAAAOxAGVKw4bAAAAsElEQVRIiWNgGAWjYDACHuaDDz5U2EB5bERpYUs2nHEmjSQtPGbSvC2HSdBi3nPGTHJmw/k8/vbuBIYPZYcJa5E521Zs8XHH7WKJM2c3MM44R4QWCX7mjTdnnrmduEEidwMzbxtRWhgMpHnbzkG0/CVKC2+LEVDLAYgWRqK08BwDBXIy2C8He86lE6MlGRSVdsAQ69344EeZNWEtMJAAIg4Qrx6mZRSMglEwCkYBVgAAAzo/k4d6et8AAAAASUVORK5CYII=","orcid":"","institution":"Philadelphia College of Osteopathic Medicine","correspondingAuthor":true,"prefix":"","firstName":"Rochile","middleName":"","lastName":"Khan","suffix":""},{"id":437480995,"identity":"83d26d31-c1ac-42d8-8327-9c70e2e7c80c","order_by":1,"name":"Peter Maduka","email":"","orcid":"","institution":"Philadelphia College of Osteopathic Medicine","correspondingAuthor":false,"prefix":"","firstName":"Peter","middleName":"","lastName":"Maduka","suffix":""},{"id":437480996,"identity":"67d03d48-a93a-4aea-bc39-e75d84b2bd5a","order_by":2,"name":"Florence Tsipenyuk","email":"","orcid":"","institution":"HCA Florida Bayonet Point Hospital","correspondingAuthor":false,"prefix":"","firstName":"Florence","middleName":"","lastName":"Tsipenyuk","suffix":""}],"badges":[],"createdAt":"2024-12-20 18:53:07","currentVersionCode":1,"declarations":"","doi":"10.21203/rs.3.rs-5686307/v1","doiUrl":"https://doi.org/10.21203/rs.3.rs-5686307/v1","draftVersion":[],"editorialEvents":[],"editorialNote":"","failedWorkflow":false,"files":[{"id":79907896,"identity":"5f337a7a-f9d3-477f-a47a-cef1c39857fe","added_by":"auto","created_at":"2025-04-04 11:15:29","extension":"png","order_by":1,"title":"Figure 1","display":"","copyAsset":false,"role":"figure","size":4454265,"visible":true,"origin":"","legend":"\u003cp\u003ePatient findings.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eA-D\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eOCT split image of the macula with en face and horizontal cross-sectional view, highlighting patchy choroidal abnormalities.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eA.\u003c/strong\u003e Macula, Right Eye. \u003cstrong\u003eB.\u003c/strong\u003eMacula, Left Eye.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eC.\u003c/strong\u003e Optic Nerve OCT, Right Eye. \u003cstrong\u003eD.\u003c/strong\u003e Optic Nerve OCT, Left Eye.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eE-F\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eNIR-OCT En Fase and corresponding B-scan cut across the well-defined CA. Patchy choroidal abnormalities noted without evidence of hyperpigmented spots and retinal vascular abnormalities.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eE.\u003c/strong\u003e Right Eye, NIR-OCT.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eF. \u003c/strong\u003eLeft Eye, NIR-OCT.\u003c/p\u003e","description":"","filename":"Fig1.png","url":"https://assets-eu.researchsquare.com/files/rs-5686307/v1/aa1094bb5d849888c9aa3025.png"},{"id":80282689,"identity":"1cc87695-3559-4b9a-a315-d24acbb7f0c7","added_by":"auto","created_at":"2025-04-10 06:12:23","extension":"pdf","order_by":0,"title":"","display":"","copyAsset":false,"role":"manuscript-pdf","size":5628115,"visible":true,"origin":"","legend":"","description":"","filename":"manuscript.pdf","url":"https://assets-eu.researchsquare.com/files/rs-5686307/v1/a567ecd5-948a-4965-8dcc-1e124e0ca23a.pdf"}],"financialInterests":"No competing interests reported.","formattedTitle":"A Case for Increasing the Significance of Choroidal Abnormalities in Ophthalmic Assessment of Neurofibromatosis Type 1","fulltext":[{"header":"Introduction","content":"\u003cp\u003eNeurofibromatosis type 1 (NF1) is a genetic disorder with an autosomal dominant pattern of inheritance. This condition arises from a mutation within the neurofibromatosis 1 gene on chromosome 17q11.2. This gene encodes neurofibromin, a GTPase-activating protein that modulates Ras as a tumor suppressor, playing an essential role in regulating cell growth. Dysregulation of this protein results in the overgrowth of neural crest-derived tissues [1]. These hamartomatous proliferations can affect the skin, eyes, and brain, and may lead to benign and malignant tumors.\u003c/p\u003e\n\u003cp\u003eOcular manifestations of NF1 have been extensively documented, for example, Lisch nodules on the iris were first identified by Karl Lisch in 1937 as a key diagnostic criterion for NF1. By the early 2010s, choroidal abnormalities (CAs) were recognized as another ocular finding in patients with NF1. Further research led to an update of NF1 diagnostic criteria in 2021, including CAs based on the high specificity and sensitivity of their presence, comparable to that of Lisch nodules [2, 3]. The revised diagnostic criterion involves the findings of two or more choroidal abnormalities, observed on optic coherence tomography (OCT) and near-infrared reflectance (NIR) imaging as bright, patchy nodules.\u003c/p\u003e"},{"header":"Case Report","content":"\u003cp\u003eA 23-year-old female was diagnosed with NF1 within the previous year and presented to the clinic for a routine dilated fundus exam. Her diagnosis of NF1 was established through an abdominal mass biopsy that revealed a schwannoma, in conjunction with multiple cafe-au-lait spots, soft tissue lesions, and osseous masses found on MRI. Aside from occasional ocular surface dryness, the patient reported no visual symptoms. Findings from the external, slit lamp, and fundus exams were all unremarkable. The retina was flat without elevation, lesions or masses. There was an absence of retinal vascular abnormalities, eyelid neurofibromas, Lisch nodules, optic nerve lesions, and signs of elevation or edema. On OCT/NIR imaging, multiple bright, patchy lesions, localizing to the choroid were observed \u003cstrong\u003e(Figures A-E)\u003c/strong\u003e. The patient has no relevant family or personal medical history that adds significant information to this case. The patient was advised to return yearly for routine examination and surveillance.\u003c/p\u003e"},{"header":"Discussion","content":"\u003cp\u003eThis report is being shared as a specific case of a patient with NF1 whose ophthalmic exam lacked Lisch nodules, while their OCT/NIR imaging distinctly reveals hyperreflective nodules suggestive of CAs.\u003c/p\u003e\n\u003cp\u003eCAs seen in NF1 are due to the proliferation of Schwann cells and neural crest derived melanocytes [4, 5, 6]. Hence, similar to Lisch nodules, CAs can be categorized as hamartomatous lesions of neural crest-derived tissues attributed to NF1. Historically, Lisch nodules have been considered the primary ocular finding for diagnosing NF1, however, recent studies show that CAs are present in 80 –100% of NF1 cases, compared to a fewer than 80% prevalence of Lisch nodules [2, 3, 7]. In addition, a larger proportion of NF1 patients (up to 37%) exhibit choroidal abnormalities without the presence of Lisch nodules, whereas a smaller percentage of patients (16% or fewer) have Lisch nodules without concurrent choroidal abnormalities [2, 8]. This higher occurrence suggests that CAs may be more effective in confirming the ocular diagnosis of NF1.\u003c/p\u003e\n\u003cp\u003eOCT/INR imaging can aid in the visualization of CAs. The expansion of melanocytes and neural crest cells result in choroidal thickening that leads to these findings visible on OCT. NIR has been shown to be helpful in identifying choroidal changes, particularly by providing enhanced visualization of deeper ocular structures. The increased melanin concentration increases the absorption of NIR light and causes backscattering, resulting in the bright patchy lesions [4, 9]. Vascular arcades maintain a thicker choroid and therefore a higher concentration of melanocytes. As such, it has been noted that choroidal abnormalities are more commonly found within choroidal vascular arcades [2, 9]. Additionally, some retinal microvasculature changes overlying choroidal nodules in NF1 have been noted. These represent an additional unique ocular feature in this condition. The role of angiogenic factors in these retinal microvascular changes have been hypothesized, but ultimately additional research is recommended to fully understand the correlation, clinical significance, and impact of these lesions on the adjacent retinochoroidal vasculature [2].\u0026nbsp;\u003c/p\u003e\n\u003cp\u003eThis case illustrates the presence of characteristic choroidal nodules in an individual with NF1, detectable through OCT even in the absence of other common ocular findings. Identifying CAs through OCT/NIR imaging can be helpful in diagnosing NF1 as these changes may be visible in children before Lisch nodules grow large enough to be visualized on the iris. While the extent of choroidal involvement and its potential effects on the retinal vasculature may change with age, further research is needed to establish this relationship.\u003c/p\u003e"},{"header":"Declarations","content":"\u003cp\u003e\u003cstrong\u003eEthics approval and consent to participate\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eInformed consent was obtained from the patient included in the report.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eConsent for publication\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eInformed consent was obtained from the patient included in the report.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eAvailability of data and materials\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eAll data and materials of this case are available upon request.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eFunding\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eNot applicable\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eCompeting interests\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eNot applicable\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eAuthors' contributions\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003ePM provided the patient details for the case and procured the images. RK wrote the main manuscript text with assistance from FT and editing from PM. All authors reviewed the manuscript.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eAcknowledgements\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eNot applicable\u003c/p\u003e"},{"header":"References","content":"\u003col\u003e\n \u003cli\u003eGutmann DH, Aylsworth A, Carey JC, et al. The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2. Journal of the American Medical Association. 1997;278(1):51\u0026ndash;57.\u003c/li\u003e\n \u003cli\u003eMallone F, Lucchino L, Giustini S, Lambiase A, Moramarco A. An update on choroidal abnormalities and retinal microvascular changes in neurofibromatosis type 1. Orphanet J Rare Dis. 2022 Jun 13;17(1):223. doi: 10.1186/s13023-022-02369-8. PMID: 35698197; PMCID: PMC9195315.\u003c/li\u003e\n \u003cli\u003eLegius E, Messiaen L, Wolkenstein P, Pancza P, Avery RA, Berman Y, Blakeley J, Babovic-Vuksanovic D, Cunha KS, Ferner R, Fisher MJ, Friedman JM, Gutmann DH, Kehrer-Sawatzki H, Korf BR, Mautner VF, Peltonen S, Rauen KA, Riccardi V, Schorry E, Stemmer-Rachamimov A, Stevenson DA, Tadini G, Ullrich NJ, Viskochil D, Wimmer K, Yohay K; International Consensus Group on Neurofibromatosis Diagnostic Criteria (I-NF-DC); Huson SM, Evans DG, Plotkin SR. Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation. Genet Med. 2021 Aug;23(8):1506-1513. doi: 10.1038/s41436-021-01170-5. Epub 2021 May 19. PMID: 34012067; PMCID: PMC8354850.\u003c/li\u003e\n \u003cli\u003eMakino S, Tampo H. Optical coherence tomography imaging of choroidal abnormalities in neurofibromatosis type 1. Case Rep Ophthalmol Med. 2013;2013:292981. doi: 10.1155/2013/292981. Epub 2013 Apr 22. PMID: 23710396; PMCID: PMC3654718.\u003c/li\u003e\n \u003cli\u003eAbdolrahimzadeh S, Felli L, Piraino DC, Mollo R, Calvieri S, Recupero SM. Retinal microvascular abnormalities overlying choroidal nodules in neurofibromatosis type 1. BMC Ophthalmol. 2014 Nov 25;14:146. doi: 10.1186/1471-2415-14-146. PMID: 25424184; PMCID: PMC4258815.\u003c/li\u003e\n \u003cli\u003eKlein RM, Glassman L. Neurofibromatosis of the choroid. Am J Ophthalmol. 1985 Mar 15;99(3):367-8. doi: 10.1016/0002-9394(85)90376-9. PMID: 3919589.\u003c/li\u003e\n \u003cli\u003eYasunari T, Shiraki K, Hattori H, Miki T. Frequency of choroidal abnormalities in neurofibromatosis type 1. Lancet. 2000 Sep 16;356(9234):988-92. doi: 10.1016/S0140-6736(00)02716-1. PMID: 11041400.\u003c/li\u003e\n \u003cli\u003eMoramarco A, Giustini S, Nofroni I, Mallone F, Miraglia E, Iacovino C, Calvieri S, Lambiase A. Near-infrared imaging: an in vivo, non-invasive diagnostic tool in neurofibromatosis type 1. Graefes Arch Clin Exp Ophthalmol. 2018 Feb;256(2):307-311. doi: 10.1007/s00417-017-3870-z. Epub 2017 Dec 30. PMID: 29290016.\u003c/li\u003e\n \u003cli\u003eNakakura S, Shiraki K, Yasunari T, Hayashi Y, Ataka S, Kohno T. Quantification and anatomic distribution of choroidal abnormalities in patients with type I neurofibromatosis. Graefes Arch Clin Exp Ophthalmol. 2005 Oct;243(10):980-4. doi: 10.1007/s00417-005-1184-z. Epub 2005 Oct 20. PMID: 15891894.\u003c/li\u003e\n\u003c/ol\u003e"}],"fulltextSource":"","fullText":"","funders":[],"hasAdminPriorityOnWorkflow":false,"hasManuscriptDocX":true,"hasOptedInToPreprint":true,"hasPassedJournalQc":"","hasAnyPriority":false,"hideJournal":true,"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":"researchsquare","isNatureJournal":false,"hasQc":true,"allowDirectSubmit":true,"externalIdentity":"","sideBox":"","snPcode":"","submissionUrl":"/submission","title":"Research Square","twitterHandle":"researchsquare","acdcEnabled":true,"dfaEnabled":false,"editorialSystem":"","reportingPortfolio":"","inReviewEnabled":false,"inReviewRevisionsEnabled":true},"keywords":"Neurofibromatosis 1, Choroidal abnormalities, Melanocytes, Optical coherence tomography imaging, Near-infrared reflectance imaging","lastPublishedDoi":"10.21203/rs.3.rs-5686307/v1","lastPublishedDoiUrl":"https://doi.org/10.21203/rs.3.rs-5686307/v1","license":{"name":"CC BY 4.0","url":"https://creativecommons.org/licenses/by/4.0/"},"manuscriptAbstract":"\u003cp\u003eNeurofibromatosis type 1 (NF1) is a genetic disorder linked to various ocular manifestations, including optic nerve gliomas, prominent corneal nerves, neurofibromas, secondary glaucoma, astrocytomas, choroidal nevi, and Lisch nodules. The identification of choroidal abnormalities (CAs) has gained attention as a significant ocular feature of NF1. This case report highlights a patient with NF1 whose sole ocular manifestation was the presence of CAs. The CAs were visible on optic coherence tomography (OCT) and near-infrared reflectance (NIR) imaging.\u003c/p\u003e","manuscriptTitle":"A Case for Increasing the Significance of Choroidal Abnormalities in Ophthalmic Assessment of Neurofibromatosis Type 1","msid":"","msnumber":"","nonDraftVersions":[{"code":1,"date":"2025-04-04 11:07:24","doi":"10.21203/rs.3.rs-5686307/v1","editorialEvents":[{"type":"communityComments","content":0}],"status":"published","journal":{"display":true,"email":"[email protected]","identity":"researchsquare","isNatureJournal":false,"hasQc":true,"allowDirectSubmit":true,"externalIdentity":"","sideBox":"","snPcode":"","submissionUrl":"/submission","title":"Research Square","twitterHandle":"researchsquare","acdcEnabled":true,"dfaEnabled":false,"editorialSystem":"","reportingPortfolio":"","inReviewEnabled":false,"inReviewRevisionsEnabled":true}}],"origin":"","ownerIdentity":"659b5e2e-436e-46ab-84eb-e09ebbafebff","owner":[],"postedDate":"April 4th, 2025","published":true,"recentEditorialEvents":[],"rejectedJournal":[],"revision":"","amendment":"","status":"posted","subjectAreas":[],"tags":[],"updatedAt":"2025-04-10T05:56:11+00:00","versionOfRecord":[],"versionCreatedAt":"2025-04-04 11:07:24","video":"","vorDoi":"","vorDoiUrl":"","workflowStages":[]},"version":"v1","identity":"rs-5686307","journalConfig":"researchsquare"},"__N_SSP":true},"page":"/article/[identity]/[[...version]]","query":{"redirect":"/article/rs-5686307","identity":"rs-5686307","version":["v1"]},"buildId":"8U1c8b4HqxoKbykW_rLl7","isFallback":false,"isExperimentalCompile":false,"dynamicIds":[84888],"gssp":true,"scriptLoader":[]}