Propionibacterium acnes related endophthalmitis and HFE gene variation

Propionibacterium acnes related endophthalmitis and HFE gene variation | 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 Short Report Propionibacterium acnes related endophthalmitis and HFE gene variation Ling Gao, Keyi Feng This is a preprint; it has not been peer reviewed by a journal. https://doi.org/ 10.21203/rs.3.rs-4570905/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 Background To report a case of propionibacterium acnes endophthalmitis (PAE) associated with HFE gene mutation. Case presentation A 44-year-old man presented with painless binocular vision loss 5 months after cataract surgery with a previous diagnosis of binocular retinitis pigmentosa. It was initially diagnosed as noninfectious uveitis and treated with methylprednisolone. One month later, he experienced sudden loss of visual acuity and grey patchy opacity surrounding the capsular and intraocular lens implantation in the left eye. The next generation sequencing testshowed the presence of propionibacterium acnes (PA) in his aqueous humor of a very high sequence. The patient improved after anti-infective treatment. Genetic tests showed mutations in EYS gene and HFE gene. Conclusion HFE gene mutation might promote the intraocular growth and reproduction of PA by increasing the concentration of iron ions, leading to PAE in this post-operation patients with normal immune function. propionibacterium acnes endophthalmitis HFE uveitis case report Figures Figure 1 Figure 2 Figure 3 Background Propionibacterium acnes (PA) is an anaerobic gram-positive bacterium that is widely present in the normal flora of eyelid margins and conjunctival bursae. PA is a low-virulence organism that can cause delayed endophthalmitis, a persistent low-grade inflammation that may not present severe pain and other symptoms, so it is easy to misdiagnose. Mutations in the HFE gene causes hereditary hemochromatosis (HH), leading to systemic iron deposits, liver cirrhosis, skin pigmentation and other symptoms. In the eye, mutations in the HFE gene can also cause disturbances in iron metabolism. Herein, we report a case of an adult male with PAE with HFE gene mutation and discuss the relationship between the two. Case presentation A 44-year-old man presented with binocular blurred vision for more than 20 years, and worsening for 6 months, diagnosed with binocular complicated cataract and retinitis pigmentosa. The postoperative best corrected visual acuity (BCVA) was 20/200 after bilateral phacoemulsification and IOL. The bilateral BCVA decreased to 20/400 five months later. Supplementary diagnosis of non-infectious chronic uveitis was made, on account of prominent dusty and mutton-fat keratic precipitate (KP) (++~+++), cells (+~++) in the anterior chamber (AC), and vitreous cells (+~++) in the both eyes. (Fig. 1) Methylprednisolone of 30mg per day was given systemically along with steroid eyedrops. A sudden painless blurry vision happened in the left eye one month later, with the decreased BCVA of 20/2000, intraocular pressure of 42mmHg, hypopyon, grey patchy opacity surrounding the capsular and anterior surface of IOL, and vitreous cells (++). (Fig. 2) We determined endophthalmitis caused by propionibacterium acnes (PA), given the history of cataract surgery, the characteristic granlomatous and fibrous membrane around the IOL,and the PA with sequence of 1877251 detected in aqueous humor (AH) by metagenomic next generation sequencing. Intraocular inflammation cells and membrane resolved with the BCVA returning to 20/500 after intravitreal and systemical administration of antibiotics, which supported our diagnosis. Considering the inbred parents and symmetrical binocular fundus changes, genetic analysis was performed. Complex double-gene mutations coexisted in this case. One was exon 16–26 of EYS gene absence contained in a homozygous 0.38Mb deletion on 6q12 and a 0.10Mb duplication on 9p21. Interestingly another one was the C187G(p.H63D)variation in HFE gene (Fig. 3), which was furtherd demonstrated by the increased ferritin of 360.32ng/ml and ceruloplasmin of 196mg/L in the serum, as well as and ferriiron of 8.136 mg/L in AH. Discussion PA is a Gram-positive and facultative oxygen tolerant bacterium. Widely existing in human skin, eyelid edge, conjunctiva normal flora, it is the most common ocular opportunistic pathogen. Actually PA direct invasion can cause delayed endophthalmitis after intraocular surgery, and endogeous infections in immunocompromised individuals. Moreover, the lipoteichoic acids anchoring in the cell membrane envelopes of PA can stimulate the antigen-antibody reaction to produce granulomatous and proliferative lesions [1] . Combined together, PAE are characterize by the chronic or subacute granlomatous lesion and fibrous membrane around the capsule and IOL surface. Lacking acute infection manifestations like prominent eye pain, congestion and purulent caused by highly virulent bacteria (Staphylococcus aureus, streptococcus, etc) , PAE is usually misdiagnosed as non-infectious uveitis, yet has much better prognosis. Additionally, the next generation sequencing test (NGS) provides the evidence for the intraocular presence of PA, it is also difficult to confirm PA as a pathogenic for intraocular infection, due to the widespread existence, the high rate of false positive and relative low amplified copy number resulting from lower virulence. In this case, we determined PA as the pathogenic microbiology, given the history of cataract surgery, the large number of propionibacterium acnes sequences in AH revealed by NGS, and the characteristic of granlomatous and fibrous membrane around the IOL. This is supported by the rapid disappearance of intraocular inflammatory signs and BCVA improvement after intravitreal and systemical administration of antibiotics. The lack of acute symptoms and the omission of characteristic lesions caused by the occlusion of KP and cells in the AC led to the initial misdiagnosis. Thinking the biocular symmetry retinal lesions and the inbred parents, we screened the genetic mutation and found both HFE and EYS gene variants. A 0.38Mb fragment was lost in exon 16 to 26 of EYS gene and a HFE p.H63D is a C-to-G mutation at cDNA position 187 of the HFE gene. The EYS gene variation has been demonstrated as the cause of retinitis pigmentosa, herein we do not discuss in detail. [2] To our surprise, whether there is association of HFE mutation and dramatic increase of the PA sequence. Mutations in the HFE gene causes systemic iron metabolism abnormalities. The increase of ferritin and a decrease of cerulo in his serum supports the presence of HH even without other systemic abnormalities. We then wonder whether there is HH-related intraocular abnormalities. The concentration of iron ion of 8.136mg/L in his AH was much higher than the normal value in serum (0.597~2.055mg/L), although the normal range in AH has not been reported until now. In normal retina, HFE protein is expressed only in the basolateral membrane of the RPE. After binding to transferrin receptor 1 (TfR 1) , HFE protein reduces the affinity with TfR 1, thus reduces the cellular uptake of iron ions from the choroid blood. [3] Mutant HFE gene not only made the mutated protein to reduce the affinity with TfR 1 and thus to cause cells to take up more iron. It but also leads the serum ceruloplasmin dysfunction to impaired intraocular iron homeostasis by preventing the conversion form Fe2+ to the iron ion export form Fe3+ [4] . The accumulated iron ions is supposed to promote the ferroptosis of retinal neurons in this patient. Furthermore, the increase of iron ion concentration facilitate the growth of Propionibacterium, the activity of catalase and superoxide dismutase, which improved the ability of bacteria to resist oxidative stress in vitro [5] . In combination with the observation that HFE mutation increased the iron concentration in AH, we could reasonably infer it contributes to the growth and reproduction of PA. Conclusions Chronic or sub-acute unilateral granulomatous uveitis after a post-intraocular surgery should been taken PAE into consideration. Due to the lack of the acute inflammatory symptoms and low amplified copy number caused by low toxicity, PAE is easily to be misdiagnosed. HFE gene mutation might promote the intraocular growth and reproduction of PA by increasing the concentration of iron ions, leading to PAE in this post-operation patients with normal immune function. To best of our knowledge, it is the first study to describe the potential association of PAE and HFE mutation. Abbreviations propionibacterium acnes endophthalmitis (PAE) propionibacterium acnes (PA) hereditary hemochromatosis (HH) best corrected visual acuity (BCVA) keratic precipitate (KP) anterior chamber (AC) aqueous humor (AH) the next generation sequencing test (NGS) transferrin receptor 1 (TfR 1) Declarations Ethics approval and consent to participate Not applicable. Consent for publication Obtained from patient. Competing interests The authors declare no competing interests. Acknowledgements Not applicable Authors’ contributions Dr. Ling Gao analyzed and interpreted the patient data. The manuscript was written by Dr. Keyi Feng and substantively revised by Dr. Ling Gao. All authors read and approved the final manuscript. Funding No funding was received. Availability of data and materials The data used in that case report is available from the corresponding author on reasonable request. References Percy MG, Gründling A (2014) Lipoteichoic acid synthesis and function in gram-positive bacteria. Annu Rev Microbiol 68:81–100. 10.1146/annurev-micro-091213-112949 Dan H, Huang X, Xing Y, Shen Y (2020) Application of targeted panel sequencing and whole exome sequencing for 76 Chinese families with retinitis pigmentosa. Mol Genet Genomic Med 8(3):e1131. 10.1002/mgg3.1131 Kawabata H (2019) Transferrin and transferrin receptors update. Free Radic Biol Med 133:46–54. 10.1016/j.freeradbiomed.2018.06.037 Song YS, Annalora AJ, Marcus CB, Jefcoate CR, Sorenson CM, Sheibani N (2022) Cytochrome P450 1B1: A Key Regulator of Ocular Iron Homeostasis and Oxidative Stress. Cells 11(19):2930 Published 2022 Sep 20. 10.3390/cells11192930 Sakharova T, Mukhametov A, Bokov D (2022) The role of divalent iron cations in the growth, adhesive properties and extracellular adaptation mechanisms of Propionibacterium sp. Saudi J Biol Sci 29(5):3642–3646. 10.1016/j.sjbs.2022.02.048 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. 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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-4570905","acceptedTermsAndConditions":true,"allowDirectSubmit":true,"archivedVersions":[],"articleType":"Short Report","associatedPublications":[],"authors":[{"id":322024400,"identity":"7c5933c7-ac1c-4d82-a27a-bc33c3502064","order_by":0,"name":"Ling Gao","email":"data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAZAAAAAyAQMAAABI0h/eAAAABlBMVEX///8AAABVwtN+AAAACXBIWXMAAA7EAAAOxAGVKw4bAAAA/UlEQVRIiWNgGAWjYHACxgMJDAxy/Oz9Hx9ABBII6wFpMZbsOWBsQLwWIE40uJFgJkGUFnn3wwcOPNxRm8Bw5kBaxY8/hxn42XMMGH7uwK3F8ExawoHEM8fzGNsbjt3sbTvMINnzxoCx9wweLQ05BgcS244VM/McbLvN2HCYweBGjgEzYxseLf1vwFoS2ySS2YoZgA6zJ6RFXgJsS01ij0QaGzMDG9AWCQJaDCSeAf3SdsBYgucMs2RvWzqPxJlnBQd78dnSn3zw4c+2Ojn74z2MH378sZbjb0/e+OAnPlsOgKnDcAEeEHEAtwagLQ1gqg6fmlEwCkbBKBjpAAD5mFqEoo2G9gAAAABJRU5ErkJggg==","orcid":"","institution":"Second Xiangya Hospital of Central South University","correspondingAuthor":true,"prefix":"","firstName":"Ling","middleName":"","lastName":"Gao","suffix":""},{"id":322024403,"identity":"38579aaf-8c71-4226-a07a-c2098fe6fc58","order_by":1,"name":"Keyi Feng","email":"","orcid":"","institution":"Second Xiangya Hospital of Central South University","correspondingAuthor":false,"prefix":"","firstName":"Keyi","middleName":"","lastName":"Feng","suffix":""}],"badges":[],"createdAt":"2024-06-12 14:17:22","currentVersionCode":1,"declarations":"","doi":"10.21203/rs.3.rs-4570905/v1","doiUrl":"https://doi.org/10.21203/rs.3.rs-4570905/v1","draftVersion":[],"editorialEvents":[],"editorialNote":"","failedWorkflow":false,"files":[{"id":60623739,"identity":"ba7a5e4e-7689-4a8f-b543-be8fcb9429c5","added_by":"auto","created_at":"2024-07-18 21:51:46","extension":"jpg","order_by":1,"title":"Figure 1","display":"","copyAsset":false,"role":"figure","size":33169,"visible":true,"origin":"","legend":"\u003cp\u003eKP and cells in the anterior chamber of the left eye in the second visit.\u003c/p\u003e","description":"","filename":"1.jpg","url":"https://assets-eu.researchsquare.com/files/rs-4570905/v1/ba9ec0afc1e38141369fbcd6.jpg"},{"id":60623740,"identity":"a4644ae9-af06-43d1-b450-31f21d2ffb9c","added_by":"auto","created_at":"2024-07-18 21:51:46","extension":"jpg","order_by":2,"title":"Figure 2","display":"","copyAsset":false,"role":"figure","size":27052,"visible":true,"origin":"","legend":"\u003cp\u003eHypopyon and cells in the anterior chamber of the left eye in the third visit after systemic treatment with corticosteroid and rifampentine.\u003c/p\u003e","description":"","filename":"2.jpg","url":"https://assets-eu.researchsquare.com/files/rs-4570905/v1/52fffb3b0103db3e3b3b4bc1.jpg"},{"id":60623741,"identity":"ae496f0a-691c-4fc6-bac9-e54ff3efd8d4","added_by":"auto","created_at":"2024-07-18 21:51:46","extension":"jpg","order_by":3,"title":"Figure 3","display":"","copyAsset":false,"role":"figure","size":74565,"visible":true,"origin":"","legend":"\u003cp\u003eA. High-throughput sequencing showed no copy number in 6q12 and double copy numbers in 9q21.1.\u003c/p\u003e\n\u003cp\u003eB. The cytosine in the cDNA position 187 of the HFE gene was replaced by guanine, resulting in the substitution of the 63rd amino acid, histidine, by glycine. Family verification results: father: heterozygote; mother: heterozygote; son: heterozygote; brother: wild type\u003c/p\u003e","description":"","filename":"3.jpg","url":"https://assets-eu.researchsquare.com/files/rs-4570905/v1/91e723fc58e2113fb1d833fa.jpg"},{"id":106877914,"identity":"048683af-4999-41fb-b8d2-5edf7f29b5d1","added_by":"auto","created_at":"2026-04-14 10:42:45","extension":"pdf","order_by":0,"title":"","display":"","copyAsset":false,"role":"manuscript-pdf","size":457181,"visible":true,"origin":"","legend":"","description":"","filename":"manuscript.pdf","url":"https://assets-eu.researchsquare.com/files/rs-4570905/v1/da11ca22-7f38-4fa9-954a-a5c5ae2ba906.pdf"}],"financialInterests":"No competing interests reported.","formattedTitle":"Propionibacterium acnes related endophthalmitis and HFE gene variation","fulltext":[{"header":"Background","content":"\u003cp\u003ePropionibacterium acnes (PA) is an anaerobic gram-positive bacterium that is widely present in the normal flora of eyelid margins and conjunctival bursae. PA is a low-virulence organism that can cause delayed endophthalmitis, a persistent low-grade inflammation that may not present severe pain and other symptoms, so it is easy to misdiagnose.\u003c/p\u003e \u003cp\u003eMutations in the HFE gene causes hereditary hemochromatosis (HH), leading to systemic iron deposits, liver cirrhosis, skin pigmentation and other symptoms. In the eye, mutations in the HFE gene can also cause disturbances in iron metabolism. Herein, we report a case of an adult male with PAE with HFE gene mutation and discuss the relationship between the two.\u003c/p\u003e"},{"header":"Case presentation","content":"\u003cp\u003eA 44-year-old man presented with binocular blurred vision for more than 20 years, and worsening for 6 months, diagnosed with binocular complicated cataract and retinitis pigmentosa. The postoperative best corrected visual acuity (BCVA) was 20/200 after bilateral phacoemulsification and IOL. The bilateral BCVA decreased to 20/400 five months later. Supplementary diagnosis of non-infectious chronic uveitis was made, on account of prominent dusty and mutton-fat keratic precipitate (KP) (++~+++), cells (+~++) in the anterior chamber (AC), and vitreous cells (+~++) in the both eyes. (Fig. 1) Methylprednisolone of 30mg per day was given systemically along with steroid eyedrops. A sudden painless blurry vision happened in the left eye one month later, with the decreased BCVA of 20/2000, intraocular pressure of 42mmHg, hypopyon, grey patchy opacity surrounding the capsular and anterior surface of IOL, and vitreous cells (++). (Fig. 2) We determined endophthalmitis caused by propionibacterium acnes (PA), given the history of cataract surgery, the characteristic granlomatous and fibrous membrane around the IOL,and the PA with sequence of 1877251 detected in aqueous humor (AH) by metagenomic next generation sequencing. Intraocular inflammation cells and membrane resolved with the BCVA returning to 20/500 after intravitreal and systemical administration of antibiotics, which supported our diagnosis.\u003c/p\u003e\n\u003cp\u003eConsidering the inbred parents and symmetrical binocular fundus changes, genetic analysis was performed. Complex double-gene mutations coexisted in this case. One was exon 16–26 of EYS gene absence contained in a homozygous 0.38Mb deletion on 6q12 and a 0.10Mb duplication on 9p21. Interestingly another one was the C187G(p.H63D)variation in HFE gene (Fig. 3), which was furtherd demonstrated by the increased ferritin of 360.32ng/ml and ceruloplasmin of 196mg/L in the serum, as well as and ferriiron of 8.136 mg/L in AH.\u003c/p\u003e"},{"header":"Discussion","content":"\u003cp\u003ePA is a Gram-positive and facultative oxygen tolerant bacterium. Widely existing in human skin, eyelid edge, conjunctiva normal flora, it is the most common ocular opportunistic pathogen. Actually PA direct invasion can cause delayed endophthalmitis after intraocular surgery, and endogeous infections in immunocompromised individuals.\u0026nbsp;Moreover, the lipoteichoic acids anchoring in the cell membrane envelopes of PA can stimulate the antigen-antibody reaction to produce granulomatous and proliferative lesions\u003csup\u003e[1]\u003c/sup\u003e. Combined together, PAE are characterize by the chronic or subacute granlomatous lesion and fibrous membrane around the capsule and IOL surface. Lacking acute infection manifestations like prominent eye pain, congestion and purulent caused by highly virulent bacteria (Staphylococcus aureus, streptococcus, etc) , PAE is usually misdiagnosed as non-infectious uveitis, yet has much better prognosis. Additionally, the\u0026nbsp;next generation sequencing\u0026nbsp;test (NGS) provides the evidence for the intraocular presence of PA, it is also difficult to confirm PA as a pathogenic for intraocular infection, due to the widespread existence, the high rate of false positive and relative low amplified copy\u0026nbsp;number resulting from lower virulence. In this case, we determined PA as the pathogenic microbiology, given the history of cataract surgery, the large number of propionibacterium acnes sequences in AH revealed by NGS, and the characteristic of granlomatous and fibrous membrane around the IOL. This is supported by the rapid disappearance of intraocular inflammatory signs and BCVA improvement after intravitreal and systemical administration of antibiotics. The lack of acute symptoms and the omission of characteristic lesions caused by the occlusion of KP and cells in the AC led to the initial misdiagnosis.\u003c/p\u003e\n\u003cp\u003eThinking the biocular symmetry retinal lesions and the inbred parents, we screened the genetic mutation and found both HFE and EYS gene variants. A 0.38Mb fragment was lost in exon 16 to 26 of EYS gene and a HFE p.H63D is a C-to-G mutation at cDNA position 187 of the HFE gene. The EYS gene variation has been demonstrated as the cause of retinitis pigmentosa, herein we do not discuss in detail.\u003csup\u003e[2]\u003c/sup\u003e To our surprise, whether there is association of HFE mutation and dramatic increase of the PA sequence. Mutations in the HFE gene causes systemic iron metabolism abnormalities. The increase of ferritin and a decrease of cerulo in his serum supports the presence of HH even without other systemic abnormalities. We then wonder whether there is HH-related intraocular abnormalities. The concentration of iron ion of 8.136mg/L in his AH was much higher than the normal value in serum (0.597~2.055mg/L), although the normal range in AH has not been reported until now. In normal retina, HFE protein is expressed only in the basolateral membrane of the RPE. After binding to transferrin receptor 1 (TfR 1) , HFE protein reduces the affinity with TfR 1, thus reduces the cellular uptake of iron ions from the choroid blood.\u003csup\u003e[3]\u003c/sup\u003e Mutant HFE gene not only made the mutated protein to reduce the affinity with TfR 1 and thus to cause cells to take up more iron. It but also leads the serum ceruloplasmin dysfunction to impaired intraocular iron homeostasis by preventing the conversion form Fe2+ to the iron ion export form Fe3+\u003csup\u003e[4]\u003c/sup\u003e. The accumulated iron ions is supposed to promote the ferroptosis of retinal neurons in this patient. Furthermore, the increase of iron ion concentration facilitate the growth of Propionibacterium, the activity of catalase and superoxide dismutase, which improved the ability of bacteria to resist oxidative stress in vitro\u003csup\u003e[5]\u003c/sup\u003e. In combination with the observation that HFE mutation increased the iron concentration in AH, we could reasonably infer it contributes to the growth and reproduction of PA.\u003c/p\u003e"},{"header":"Conclusions","content":"\u003cp\u003eChronic or sub-acute unilateral granulomatous uveitis after a post-intraocular surgery should been taken PAE into consideration. Due to the lack of the acute inflammatory symptoms and low amplified copy number caused by low toxicity, PAE is easily to be misdiagnosed. HFE gene mutation might promote the intraocular growth and reproduction of PA by increasing the concentration of iron ions, leading to PAE in this post-operation patients with normal immune function. To best of our knowledge, it is the first study to describe the potential association of PAE and HFE mutation.\u003c/p\u003e"},{"header":"Abbreviations","content":"\u003cp\u003epropionibacterium acnes endophthalmitis (PAE)\u003c/p\u003e\n\u003cp\u003epropionibacterium acnes (PA)\u003c/p\u003e\n\u003cp\u003ehereditary hemochromatosis (HH)\u003c/p\u003e\n\u003cp\u003ebest corrected visual acuity (BCVA)\u003c/p\u003e\n\u003cp\u003ekeratic precipitate (KP)\u0026nbsp;\u003c/p\u003e\n\u003cp\u003eanterior chamber (AC)\u003c/p\u003e\n\u003cp\u003eaqueous humor (AH)\u003c/p\u003e\n\u003cp\u003ethe\u0026nbsp;next generation sequencing\u0026nbsp;test (NGS)\u003c/p\u003e\n\u003cp\u003etransferrin receptor 1 (TfR 1)\u003c/p\u003e"},{"header":"Declarations","content":"\u003cp\u003e\u003cstrong\u003eEthics approval and consent to participate\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eNot applicable.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eConsent for publication\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eObtained from patient.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eCompeting interests\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eThe authors declare no competing interests.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eAcknowledgements\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eNot applicable\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eAuthors\u0026rsquo; contributions\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eDr. Ling Gao\u0026nbsp;analyzed and interpreted the patient data. The manuscript was written by\u0026nbsp;Dr. Keyi Feng\u0026nbsp;and substantively revised by\u0026nbsp;Dr. Ling Gao. All authors read and approved the final manuscript.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eFunding\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eNo funding was received.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eAvailability of data and materials\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eThe data used in that case report is available from the corresponding author on reasonable request.\u003c/p\u003e"},{"header":"References","content":"\u003col\u003e\u003cli\u003e\u003cspan\u003ePercy MG, Gr\u0026uuml;ndling A (2014) Lipoteichoic acid synthesis and function in gram-positive bacteria. Annu Rev Microbiol 68:81\u0026ndash;100. \u003cspan class=\"ExternalRef\"\u003e\u003cspan class=\"RefSource\"\u003e10.1146/annurev-micro-091213-112949\u003c/span\u003e\u003cspan address=\"10.1146/annurev-micro-091213-112949\" targettype=\"DOI\" class=\"RefTarget\"\u003e\u003c/span\u003e\u003c/span\u003e\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eDan H, Huang X, Xing Y, Shen Y (2020) Application of targeted panel sequencing and whole exome sequencing for 76 Chinese families with retinitis pigmentosa. Mol Genet Genomic Med 8(3):e1131. \u003cspan class=\"ExternalRef\"\u003e\u003cspan class=\"RefSource\"\u003e10.1002/mgg3.1131\u003c/span\u003e\u003cspan address=\"10.1002/mgg3.1131\" targettype=\"DOI\" class=\"RefTarget\"\u003e\u003c/span\u003e\u003c/span\u003e\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eKawabata H (2019) Transferrin and transferrin receptors update. Free Radic Biol Med 133:46\u0026ndash;54. \u003cspan class=\"ExternalRef\"\u003e\u003cspan class=\"RefSource\"\u003e10.1016/j.freeradbiomed.2018.06.037\u003c/span\u003e\u003cspan address=\"10.1016/j.freeradbiomed.2018.06.037\" targettype=\"DOI\" class=\"RefTarget\"\u003e\u003c/span\u003e\u003c/span\u003e\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eSong YS, Annalora AJ, Marcus CB, Jefcoate CR, Sorenson CM, Sheibani N (2022) Cytochrome P450 1B1: A Key Regulator of Ocular Iron Homeostasis and Oxidative Stress. Cells 11(19):2930 Published 2022 Sep 20. \u003cspan class=\"ExternalRef\"\u003e\u003cspan class=\"RefSource\"\u003e10.3390/cells11192930\u003c/span\u003e\u003cspan address=\"10.3390/cells11192930\" targettype=\"DOI\" class=\"RefTarget\"\u003e\u003c/span\u003e\u003c/span\u003e\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eSakharova T, Mukhametov A, Bokov D (2022) The role of divalent iron cations in the growth, adhesive properties and extracellular adaptation mechanisms of Propionibacterium sp. Saudi J Biol Sci 29(5):3642\u0026ndash;3646. \u003cspan class=\"ExternalRef\"\u003e\u003cspan class=\"RefSource\"\u003e10.1016/j.sjbs.2022.02.048\u003c/span\u003e\u003cspan address=\"10.1016/j.sjbs.2022.02.048\" targettype=\"DOI\" class=\"RefTarget\"\u003e\u003c/span\u003e\u003c/span\u003e\u003c/span\u003e\u003c/li\u003e\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":"propionibacterium acnes endophthalmitis, HFE, uveitis, case report","lastPublishedDoi":"10.21203/rs.3.rs-4570905/v1","lastPublishedDoiUrl":"https://doi.org/10.21203/rs.3.rs-4570905/v1","license":{"name":"CC BY 4.0","url":"https://creativecommons.org/licenses/by/4.0/"},"manuscriptAbstract":"\u003cp\u003e\u003cstrong\u003eBackground\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eTo report a case of propionibacterium acnes endophthalmitis (PAE) associated with HFE gene mutation.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eCase presentation\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eA 44-year-old man presented with painless binocular vision loss 5 months after cataract surgery with a previous diagnosis of binocular retinitis pigmentosa. It was initially diagnosed as noninfectious uveitis and treated with methylprednisolone. One month later, he experienced sudden loss of visual acuity and grey patchy opacity surrounding the capsular and intraocular lens implantation in the left eye. The next generation sequencing testshowed the presence of propionibacterium acnes (PA) in his aqueous humor of a very high sequence. The patient improved after anti-infective treatment. Genetic tests showed mutations in EYS gene and HFE gene.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eConclusion\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eHFE gene mutation might promote the intraocular growth and reproduction of PA by increasing the concentration of iron ions, leading to PAE in this post-operation patients with normal immune function.\u003c/p\u003e","manuscriptTitle":"Propionibacterium acnes related endophthalmitis and HFE gene variation","msid":"","msnumber":"","nonDraftVersions":[{"code":1,"date":"2024-07-18 21:51:41","doi":"10.21203/rs.3.rs-4570905/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":"518a9da6-2d49-464f-b73b-fc665f548f12","owner":[],"postedDate":"July 18th, 2024","published":true,"recentEditorialEvents":[],"rejectedJournal":[],"revision":"","amendment":"","status":"posted","subjectAreas":[],"tags":[],"updatedAt":"2026-04-14T10:41:48+00:00","versionOfRecord":[],"versionCreatedAt":"2024-07-18 21:51:41","video":"","vorDoi":"","vorDoiUrl":"","workflowStages":[]},"version":"v1","identity":"rs-4570905","journalConfig":"researchsquare"},"__N_SSP":true},"page":"/article/[identity]/[[...version]]","query":{"redirect":"/article/rs-4570905","identity":"rs-4570905","version":["v1"]},"buildId":"qtupq5eGEP_6zYnWcrvyt","isFallback":false,"isExperimentalCompile":false,"dynamicIds":[84888],"gssp":true,"scriptLoader":[]}