Pregnancy-Associated deterioration of visual function in Retinitis Pigmentosa Due to CDHR1 Mutation: A Case Report

Pregnancy-Associated deterioration of visual function in Retinitis Pigmentosa Due to CDHR1 Mutation: A Case Report | 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 Pregnancy-Associated deterioration of visual function in Retinitis Pigmentosa Due to CDHR1 Mutation: A Case Report salam Iriqat, Rawan Ayyad, Yahya Alswaiti This is a preprint; it has not been peer reviewed by a journal. https://doi.org/ 10.21203/rs.3.rs-8379255/v1 This work is licensed under a CC BY 4.0 License Status: Under Review Version 1 posted 8 You are reading this latest preprint version Abstract Background : Retinitis pigmentosa (RP) is a group of inherited retinal dystrophies leading to progressive photoreceptor degeneration. CDHR1 gene mutations represent a rare cause of autosomal recessive RP. Case Presentation : A 25-year-old pregnant female presented with worsening nyctalopia and vision. Her visual symptoms began during the first trimester and progressed rapidly. Fundus examination showed scattered pigment deposits, Mid-periphery of the retina and macular atrophy sparing the fovea, and a pale optic disc. Full-field electroretinography revealed extinguished photopic and scotopic responses, and OCT confirmed outer retinal atrophy. Genetic testing identified a homozygous nonsense mutation in CDHR1, consistent with autosomal recessive RP. No systemic features of syndromic RP were present. Conclusion : This case highlights a potential association between pregnancy and the accelerated progression of CDHR1-associated RP, suggesting that hormonal and vascular changes may exacerbate retinal degeneration. Close monitoring during pregnancy is advised for patients with inherited retinal dystrophies. Retinitis pigmentosa CDHR1 autosomal recessive pregnancy photoreceptor degeneration Figures Figure 1 Figure 2 Introduction Retinitis pigmentosa (RP) encompasses a group of inherited retinal dystrophies characterized by the progressive degeneration of photoreceptors, predominantly rods, followed by cones. Clinically, RP manifests as nyctalopia, peripheral vision loss, and eventual central vision impairment [1]. The disease affects approximately 1 in 3,000 to 5,000 individuals globally and is genetically heterogeneous, with over 80 causative genes identified [2]. The CDHR1 gene encodes a cadherin-related protein critical to photoreceptor outer segment morphogenesis and stability. Mutations in CDHR1 cause autosomal recessive RP and are associated with relatively slow disease progression and preservation of central vision into adulthood [3]. While the effects of pregnancy on RP progression remain poorly understood, hormonal and hemodynamic changes during gestation may influence retinal health [4]. We present a case of genetically confirmed CDHR1-associated RP in a pregnant woman who experienced accelerated visual decline. Case Presentation A 25-year-old woman presented with complaints of poor night vision and peripheral visual loss, which began during the first trimester of her pregnancy. Her past medical history was significant for bilateral pseudophakia following phacoemulsification for posterior subcapsular cataracts performed several years earlier without diagnosis of retinitis pigmentosa. No polydactyly, hearing loss, renal abnormalities, or signs of neurological involvement were noted in her previous medical record. The patient’s parents were first cousins, and a family history of similar visual problems was reported. Despite the negative history in her previous medical files of nyctalopia, nor any signs of retinal abnormalities, upon examination in our clinic she was found to have a visual acuity of 6/60 in the right eye and 6/19 in the left eye during first trimester, following up after delivery our patient reported deterioration in her vision to 6/190 in the right eye and 6/150 in the left . No reported visual acuity before pregnancy. The patient had both eyes Color vision deficiency. IOP was within normal range. Except for her visual acuity deterioration, her pregnancy was uneventful, with no history of gestational diabetes, gestational hypertension, preeclampsia or trauma. No history of refractive errors. Fundus examination showed scattered bone spicule pigmentations, macular atrophy sparing the fovea, pale optic discs, and salt-and-pepper retinal appearance. Full-field Electroretinogram showed Extinguished photopic and scotopic responses bilaterally, indicating advanced rod-cone dystrophy. Diffuse outer retinal atrophy with preserved ellipsoid zone subfoveally was noticed on Optical coherence tomography (image 1, image2). Blueprint Genetics Retinal Dystrophy Panel revealed a homozygous nonsense variant in CDHR1 c.1632C>A, p.(Tyr544*), which is classified as pathogenic, based on currently available evidence supporting its disease-causing role. The patient is homozygous for the variant, which is consistent with autosomal recessive inheritance. [5] Discussion CDHR1 (Cadherin-Related Family Member 1, MIM *609502), formerly known as PCDH21, encodes a photoreceptor-specific cadherin protein involved in outer segment disc morphogenesis and structural integrity [3], [6]. Mutations in CDHR1 are associated with a slowly progressive form of RP with preservation of central vision until later stages [3]. In this case, the patient's symptoms escalated during early pregnancy, suggesting a potential link between pregnancy and RP progression. Estrogen and progesterone fluctuations during pregnancy are known to impact vascular tone and may alter retinal perfusion or metabolic demands [7]. These changes, while physiological, could negatively impact photoreceptor survival in genetically predisposed individuals. Although data on pregnancy-related RP progression is sparse, some studies suggest that the immunologic and vascular shifts of pregnancy may exacerbate retinal degeneration in certain cases[4], [8], [9]. This underscores the importance of individualized monitoring, genetic counseling, and anticipatory guidance for pregnant patients with retinal dystrophies. Conclusion This case report presents a groundbreaking observation in the field of retinitis pigmentosa (RP). To our knowledge, it is the first documented instance where a specific gene mutation CDHR1 c.1632C>A, p.(Tyr544*) has been directly associated with accelerated RP progression during pregnancy. This report underscores the critical need for genetic counseling and prenatal diagnosis in families with consanguineous marriages, highlighting the importance of considering genetic factors in the diagnosis of RP during pregnancy. Declarations Funding Declaration: no funding Consent to Publish declaration: all authors consent to publish. The patient gave written informed consent for their clinical details to be published in this study. No identifying images or personal details were included. Consent to Participate declaration : Not applicable Ethics declaration : not applicable. Data Availability declaration: Not applicable Competing Interest declaration: no Competing Interests References D. T. Hartong, E. L. Berson, and T. P. Dryja, “Retinitis pigmentosa,” Lancet, vol. 368, no. 9549, pp. 1795–1809, Nov. 2006, doi: 10.1016/S0140-6736(06)69740-7. S. Ferrari, E. Di Iorio, V. Barbaro, D. Ponzin, F. S. Sorrentino, and F. Parmeggiani, “Retinitis pigmentosa: genes and disease mechanisms,” Curr Genomics, vol. 12, no. 4, pp. 238–249, Jun. 2011, doi: 10.2174/138920211795860107. M. F. Dias et al., “Molecular genetics and emerging therapies for retinitis pigmentosa: Basic research and clinical perspectives,” Prog Retin Eye Res, vol. 63, pp. 107–131, Mar. 2018, doi: 10.1016/j.preteyeres.2017.10.004. M. Daich Varela, M. Rashid, A. Lopes, and M. Michaelides, “The Effects of Pregnancy on Disease Progression of Retinitis Pigmentosa,” American Journal of Ophthalmology, vol. 271, pp. 243–249, Mar. 2025, doi: 10.1016/j.ajo.2024.11.016. T. Hayman et al., “Whole exome sequencing of 491 individuals with inherited retinal diseases reveals a large spectrum of variants and identification of novel candidate genes,” J Med Genet, vol. 61, no. 3, pp. 224–231, Feb. 2024, doi: 10.1136/jmg-2023-109482. K. Stingl et al., “CDHR1 mutations in retinal dystrophies,” Sci Rep, vol. 7, no. 1, p. 6992, Aug. 2017, doi: 10.1038/s41598-017-07117-8. A. Rattner et al., “A photoreceptor-specific cadherin is essential for the structural integrity of the outer segment and for photoreceptor survival,” Neuron, vol. 32, no. 5, pp. 775–786, Dec. 2001, doi: 10.1016/s0896-6273(01)00531-1. D. Sharon, S. Blackshaw, C. L. Cepko, and T. P. Dryja, “Profile of the genes expressed in the human peripheral retina, macula, and retinal pigment epithelium determined through serial analysis of gene expression (SAGE),” Proc Natl Acad Sci U S A, vol. 99, no. 1, pp. 315–320, Jan. 2002, doi: 10.1073/pnas.012582799. E. M. Vingolo, S. Salvatore, and F. Stagnitti, “Visual acuity changes in retinitis pigmentosa during pregnancy,” International Journal of Gynecology & Obstetrics, vol. 105, no. 3, pp. 269–269, 2009, doi: 10.1016/j.ijgo.2009.01.027. Additional Declarations No competing interests reported. Cite Share Download PDF Status: Under Review Version 1 posted Reviewers agreed at journal 17 Feb, 2026 Reviews received at journal 31 Jan, 2026 Reviewers agreed at journal 16 Jan, 2026 Reviewers invited by journal 14 Jan, 2026 Editor assigned by journal 14 Jan, 2026 Editor invited by journal 05 Jan, 2026 Submission checks completed at journal 02 Jan, 2026 First submitted to journal 02 Jan, 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. 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-8379255","acceptedTermsAndConditions":true,"allowDirectSubmit":false,"archivedVersions":[],"articleType":"Case Report","associatedPublications":[],"authors":[{"id":574475246,"identity":"5e75866f-4a82-4a28-8e30-25b96869f7a4","order_by":0,"name":"salam 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13:14:37","extension":"html","order_by":8,"title":"","display":"","copyAsset":false,"role":"acdc-reference","size":27935,"visible":true,"origin":"","legend":"","description":"","filename":"earlyproof.html","url":"https://assets-eu.researchsquare.com/files/rs-8379255/v1/53492851f953eb0e6251b2bd.html"},{"id":100412514,"identity":"1ba0ee2c-893c-4c3e-ba2c-de2999b61b1d","added_by":"auto","created_at":"2026-01-16 13:14:41","extension":"png","order_by":1,"title":"Figure 1","display":"","copyAsset":false,"role":"figure","size":337937,"visible":true,"origin":"","legend":"\u003cp\u003eleft eye Optical coherence tomography. left eye shows outer retinal atrophy\u003c/p\u003e\n\u003cp\u003eWith severe attenuation of ellipsoid zone Subfoveally.\u003c/p\u003e","description":"","filename":"1.png","url":"https://assets-eu.researchsquare.com/files/rs-8379255/v1/395ee10ad489c53d3f812824.png"},{"id":100412462,"identity":"774cadfb-1ac4-4db3-9f49-7b00b51ee0d8","added_by":"auto","created_at":"2026-01-16 13:14:28","extension":"png","order_by":2,"title":"Figure 2","display":"","copyAsset":false,"role":"figure","size":352426,"visible":true,"origin":"","legend":"\u003cp\u003eright eye Optical coherence tomography. right eye shows outer retinal atrophy\u003c/p\u003e\n\u003cp\u003eWith severe attenuation of ellipsoid zone Subfoveally\u003c/p\u003e","description":"","filename":"2.png","url":"https://assets-eu.researchsquare.com/files/rs-8379255/v1/b6a9af9b11fbea55e2596651.png"},{"id":100421486,"identity":"4082c0fe-f3b8-412b-811f-ab3221d2a261","added_by":"auto","created_at":"2026-01-16 13:33:07","extension":"pdf","order_by":0,"title":"","display":"","copyAsset":false,"role":"manuscript-pdf","size":997522,"visible":true,"origin":"","legend":"","description":"","filename":"manuscript.pdf","url":"https://assets-eu.researchsquare.com/files/rs-8379255/v1/ad62d899-0991-4b99-b606-3d07b3cdef42.pdf"}],"financialInterests":"No competing interests reported.","formattedTitle":"Pregnancy-Associated deterioration of visual function in Retinitis Pigmentosa Due to CDHR1 Mutation: A Case Report","fulltext":[{"header":"Introduction","content":"\u003cp\u003eRetinitis pigmentosa (RP) encompasses a group of inherited retinal dystrophies characterized by the progressive degeneration of photoreceptors, predominantly rods, followed by cones. Clinically, RP manifests as nyctalopia, peripheral vision loss, and eventual central vision impairment [1]. The disease affects approximately 1 in 3,000 to 5,000 individuals globally and is genetically heterogeneous, with over 80 causative genes identified [2].\u003c/p\u003e\n\u003cp\u003eThe CDHR1 gene encodes a cadherin-related protein critical to photoreceptor outer segment morphogenesis and stability. Mutations in CDHR1 cause autosomal recessive RP and are associated with relatively slow disease progression and preservation of central vision into adulthood [3].\u003c/p\u003e\n\u003cp\u003eWhile the effects of pregnancy on RP progression remain poorly understood, hormonal and hemodynamic changes during gestation may influence retinal health [4]. We present a case of genetically confirmed CDHR1-associated RP in a pregnant woman who experienced accelerated visual decline.\u003c/p\u003e"},{"header":"Case Presentation","content":"\u003cp\u003eA 25-year-old woman presented with complaints of poor night vision and peripheral visual loss, which began during the first trimester of her pregnancy. Her past medical history was significant for bilateral pseudophakia following phacoemulsification for posterior subcapsular cataracts performed several years earlier without diagnosis of retinitis pigmentosa. No polydactyly, hearing loss, renal abnormalities, or signs of neurological involvement were noted in her previous medical record. The patient\u0026rsquo;s parents were first cousins, and a family history of similar visual problems was reported.\u0026nbsp;\u003c/p\u003e\n\u003cp\u003eDespite the negative history in her previous medical files of nyctalopia, nor any signs of retinal abnormalities, upon examination in our clinic she was found to have a visual acuity of 6/60 in the right eye and 6/19 in the left eye during first trimester, following up after delivery our patient reported deterioration in her vision to 6/190 in the right eye and 6/150 in the left . No reported visual acuity before pregnancy. The patient had both eyes Color vision deficiency. IOP was within normal range. Except for her visual acuity deterioration, her pregnancy was uneventful, with no history of gestational diabetes, gestational hypertension, preeclampsia or trauma. No history of refractive errors.\u003c/p\u003e\n\u003cp\u003eFundus examination showed scattered bone spicule pigmentations, macular atrophy sparing the fovea, pale optic discs, and salt-and-pepper retinal appearance.\u003c/p\u003e\n\u003cp\u003eFull-field Electroretinogram showed Extinguished photopic and scotopic responses bilaterally, indicating advanced rod-cone dystrophy. Diffuse outer retinal atrophy with preserved ellipsoid zone subfoveally was noticed on Optical coherence tomography (image 1, image2).\u003c/p\u003e\n\u003cp\u003eBlueprint Genetics Retinal Dystrophy Panel revealed a homozygous nonsense variant in CDHR1 c.1632C\u0026gt;A, p.(Tyr544*), which is classified as pathogenic, based on currently available evidence supporting its disease-causing role. The patient is homozygous for the variant, which is consistent with autosomal recessive inheritance. [5]\u003c/p\u003e"},{"header":"Discussion","content":"\u003cp\u003eCDHR1 (Cadherin-Related Family Member 1, MIM *609502), formerly known as PCDH21, encodes a photoreceptor-specific cadherin protein involved in outer segment disc morphogenesis and structural integrity [3], [6]. Mutations in CDHR1 are associated with a slowly progressive form of RP with preservation of central vision until later stages [3].\u003c/p\u003e\n\u003cp\u003eIn this case, the patient\u0026apos;s symptoms escalated during early pregnancy, suggesting a potential link between pregnancy and RP progression. Estrogen and progesterone fluctuations during pregnancy are known to impact vascular tone and may alter retinal perfusion or metabolic demands [7]. These changes, while physiological, could negatively impact photoreceptor survival in genetically predisposed individuals.\u003c/p\u003e\n\u003cp\u003eAlthough data on pregnancy-related RP progression is sparse, some studies suggest that the immunologic and vascular shifts of pregnancy may exacerbate retinal degeneration in certain cases[4], [8], [9]. This underscores the importance of individualized monitoring, genetic counseling, and anticipatory guidance for pregnant patients with retinal dystrophies.\u003c/p\u003e"},{"header":"Conclusion","content":"\u003cp\u003eThis case report presents a groundbreaking observation in the field of retinitis pigmentosa (RP). To our knowledge, it is the first documented instance where a specific gene mutation CDHR1 c.1632C\u0026gt;A, p.(Tyr544*) has been directly associated with accelerated RP progression during pregnancy. \u0026nbsp;This report underscores the critical need for genetic counseling and prenatal diagnosis in families with consanguineous marriages, highlighting the importance of considering genetic factors in the diagnosis of RP during pregnancy.\u003c/p\u003e"},{"header":"Declarations","content":"\u003cp\u003eFunding Declaration: no funding\u0026nbsp;\u003c/p\u003e\n\u003cp\u003eConsent to Publish declaration: all authors consent to publish. The patient gave written informed consent for their clinical details to be published in this study. No identifying images or personal details were included.\u003c/p\u003e\n\u003cp\u003eConsent to Participate declaration : Not applicable\u003c/p\u003e\n\u003cp\u003eEthics declaration : not applicable.\u003c/p\u003e\n\u003cp\u003eData Availability declaration: Not applicable\u003c/p\u003e\n\u003cp\u003eCompeting Interest declaration: no Competing Interests\u003c/p\u003e"},{"header":"References","content":"\u003col\u003e\n\u003cli\u003eD. T. Hartong, E. L. Berson, and T. P. Dryja, \u0026ldquo;Retinitis pigmentosa,\u0026rdquo; Lancet, vol. 368, no. 9549, pp. 1795\u0026ndash;1809, Nov. 2006, doi: 10.1016/S0140-6736(06)69740-7.\u003c/li\u003e\n\u003cli\u003eS. Ferrari, E. Di Iorio, V. Barbaro, D. Ponzin, F. S. Sorrentino, and F. Parmeggiani, \u0026ldquo;Retinitis pigmentosa: genes and disease mechanisms,\u0026rdquo; Curr Genomics, vol. 12, no. 4, pp. 238\u0026ndash;249, Jun. 2011, doi: 10.2174/138920211795860107.\u003c/li\u003e\n\u003cli\u003eM. F. Dias et al., \u0026ldquo;Molecular genetics and emerging therapies for retinitis pigmentosa: Basic research and clinical perspectives,\u0026rdquo; Prog Retin Eye Res, vol. 63, pp. 107\u0026ndash;131, Mar. 2018, doi: 10.1016/j.preteyeres.2017.10.004.\u003c/li\u003e\n\u003cli\u003eM. Daich Varela, M. Rashid, A. Lopes, and M. Michaelides, \u0026ldquo;The Effects of Pregnancy on Disease Progression of Retinitis Pigmentosa,\u0026rdquo; American Journal of Ophthalmology, vol. 271, pp. 243\u0026ndash;249, Mar. 2025, doi: 10.1016/j.ajo.2024.11.016.\u003c/li\u003e\n\u003cli\u003eT. Hayman et al., \u0026ldquo;Whole exome sequencing of 491 individuals with inherited retinal diseases reveals a large spectrum of variants and identification of novel candidate genes,\u0026rdquo; J Med Genet, vol. 61, no. 3, pp. 224\u0026ndash;231, Feb. 2024, doi: 10.1136/jmg-2023-109482.\u003c/li\u003e\n\u003cli\u003eK. Stingl et al., \u0026ldquo;CDHR1 mutations in retinal dystrophies,\u0026rdquo; Sci Rep, vol. 7, no. 1, p. 6992, Aug. 2017, doi: 10.1038/s41598-017-07117-8.\u003c/li\u003e\n\u003cli\u003eA. Rattner et al., \u0026ldquo;A photoreceptor-specific cadherin is essential for the structural integrity of the outer segment and for photoreceptor survival,\u0026rdquo; Neuron, vol. 32, no. 5, pp. 775\u0026ndash;786, Dec. 2001, doi: 10.1016/s0896-6273(01)00531-1.\u003c/li\u003e\n\u003cli\u003eD. Sharon, S. Blackshaw, C. L. Cepko, and T. P. Dryja, \u0026ldquo;Profile of the genes expressed in the human peripheral retina, macula, and retinal pigment epithelium determined through serial analysis of gene expression (SAGE),\u0026rdquo; Proc Natl Acad Sci U S A, vol. 99, no. 1, pp. 315\u0026ndash;320, Jan. 2002, doi: 10.1073/pnas.012582799.\u003c/li\u003e\n\u003cli\u003eE. M. Vingolo, S. Salvatore, and F. Stagnitti, \u0026ldquo;Visual acuity changes in retinitis pigmentosa during pregnancy,\u0026rdquo; International Journal of Gynecology \u0026amp; Obstetrics, vol. 105, no. 3, pp. 269\u0026ndash;269, 2009, doi: 10.1016/j.ijgo.2009.01.027.\u003c/li\u003e\n\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":"Retinitis pigmentosa, CDHR1, autosomal recessive, pregnancy, photoreceptor degeneration","lastPublishedDoi":"10.21203/rs.3.rs-8379255/v1","lastPublishedDoiUrl":"https://doi.org/10.21203/rs.3.rs-8379255/v1","license":{"name":"CC BY 4.0","url":"https://creativecommons.org/licenses/by/4.0/"},"manuscriptAbstract":"\u003cp\u003e\u003cstrong\u003eBackground\u003c/strong\u003e: Retinitis pigmentosa (RP) is a group of inherited retinal dystrophies leading to progressive photoreceptor degeneration. CDHR1 gene mutations represent a rare cause of autosomal recessive RP.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eCase Presentation\u003c/strong\u003e: A 25-year-old pregnant female presented with worsening nyctalopia and vision. Her visual symptoms began during the first trimester and progressed rapidly. Fundus examination showed scattered pigment deposits, Mid-periphery of the retina and macular atrophy sparing the fovea, and a pale optic disc. Full-field electroretinography revealed extinguished photopic and scotopic responses, and OCT confirmed outer retinal atrophy. Genetic testing identified a homozygous nonsense mutation in CDHR1, consistent with autosomal recessive RP. No systemic features of syndromic RP were present.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eConclusion\u003c/strong\u003e: This case highlights a potential association between pregnancy and the accelerated progression of CDHR1-associated RP, suggesting that hormonal and vascular changes may exacerbate retinal degeneration. Close monitoring during pregnancy is advised for patients with inherited retinal dystrophies.\u003c/p\u003e","manuscriptTitle":"Pregnancy-Associated deterioration of visual function in Retinitis Pigmentosa Due to CDHR1 Mutation: A Case Report","msid":"","msnumber":"","nonDraftVersions":[{"code":1,"date":"2026-01-16 11:23:44","doi":"10.21203/rs.3.rs-8379255/v1","editorialEvents":[{"type":"communityComments","content":0},{"type":"reviewerAgreed","content":"252642897547303725670993275772762608903","date":"2026-02-17T16:15:56+00:00","index":"hide","fulltext":""},{"type":"editorInvitedReview","content":"","date":"2026-01-31T14:58:38+00:00","index":"hide","fulltext":""},{"type":"reviewerAgreed","content":"273059987470530191295727851882595012161","date":"2026-01-16T11:13:36+00:00","index":"hide","fulltext":""},{"type":"reviewersInvited","content":"","date":"2026-01-14T09:54:14+00:00","index":"","fulltext":""},{"type":"editorAssigned","content":"","date":"2026-01-14T09:18:03+00:00","index":"","fulltext":""},{"type":"editorInvited","content":"","date":"2026-01-05T06:41:39+00:00","index":"","fulltext":""},{"type":"checksComplete","content":"","date":"2026-01-02T19:18:11+00:00","index":"","fulltext":""},{"type":"submitted","content":"BMC Ophthalmology","date":"2026-01-02T19:13:31+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":"db215a7a-234f-451b-852c-1b63b32f36b3","owner":[],"postedDate":"January 16th, 2026","published":true,"recentEditorialEvents":[],"rejectedJournal":[],"revision":"","amendment":"","status":"under-review","subjectAreas":[],"tags":[],"updatedAt":"2026-01-16T11:23:44+00:00","versionOfRecord":[],"versionCreatedAt":"2026-01-16 11:23:44","video":"","vorDoi":"","vorDoiUrl":"","workflowStages":[]},"version":"v1","identity":"rs-8379255","journalConfig":"researchsquare"},"__N_SSP":true},"page":"/article/[identity]/[[...version]]","query":{"redirect":"/article/rs-8379255","identity":"rs-8379255","version":["v1"]},"buildId":"XKTyCvWXoU3ODBz1xrDgd","isFallback":false,"isExperimentalCompile":false,"dynamicIds":[84888],"gssp":true,"scriptLoader":[]}