{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,25]],"date-time":"2025-10-25T14:23:12Z","timestamp":1761402192020,"version":"build-2065373602"},"reference-count":14,"publisher":"MDPI AG","issue":"9","license":[{"start":{"date-parts":[[2021,8,27]],"date-time":"2021-08-27T00:00:00Z","timestamp":1630022400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Medicina"],"abstract":"<jats:p>We report a unique case of coexisting pigmentary retinopathy and ocular toxoplasmosis in a young male patient. A 23-year-old man presented with sudden visual deterioration in the left eye (LE). The fundus findings revealed bone spicule-shaped pigment deposits, a slightly pale optic disc, arteriole constriction, cystoid macular edema with an epiretinal membrane, and two small inflammatory chorioretinal scars in the right eye, with a concentric narrowing of the visual field and a nonrecordable multifocal electroretinogram (ERG). An active inflammatory lesion at the border of a pre-existing chorioretinal scar in the macula was found in the LE, with a central scotoma in the visual field. Moreover, the patient tested positive for anti-Toxoplasma gondii immunoglobulin G antibodies and showed positive results in polymerase chain reaction testing of aqueous humor. Fluorescein angiography revealed hyperfluorescence in the early phase with fluorescein leakage. A multifocal ERG of the LE showed selective loss of responses from the central 10 degrees. Genetic testing revealed heterozygosity in the RP1 and CELSR1 genes. Our case illustrates challenges in the diagnosis of unilateral pigmentary retinopathy. Based on the typical toxoplasmic lesions in the LE and two scars likely caused by inflammation, our patient was diagnosed with pigmentary retinopathy probably related to toxoplasmosis. Genetic consultation did not confirm the diagnosis of retinitis pigmentosa, but more advanced tests might be needed to definitively exclude it.<\/jats:p>","DOI":"10.3390\/medicina57090892","type":"journal-article","created":{"date-parts":[[2021,8,30]],"date-time":"2021-08-30T22:49:51Z","timestamp":1630363791000},"page":"892","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Ocular Toxoplasmosis Associated with Unilateral Pigmentary Retinopathy That May Mimic Retinitis Pigmentosa: Diagnostic Dilemmas"],"prefix":"10.3390","volume":"57","author":[{"given":"Izabella","family":"Karska-Basta","sequence":"first","affiliation":[{"name":"Department of Ophthalmology, Faculty of Medicine, Clinic of Ophthalmology and Ocular Oncology, Jagiellonian University Medical College, 31-501 Krak\u00f3w, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bo\u017cena","family":"Romanowska-Dixon","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Faculty of Medicine, Clinic of Ophthalmology and Ocular Oncology, Jagiellonian University Medical College, 31-501 Krak\u00f3w, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dorota","family":"Pojda-Wilczek","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, School of Medicine, Medical University of Silesia in Katowice, 40-752 Katowice, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Natalia","family":"Mackiewicz","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Faculty of Medicine, Clinic of Ophthalmology and Ocular Oncology, Jagiellonian University Medical College, 31-501 Krak\u00f3w, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2021,8,27]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1097\/ICB.0000000000000773","article-title":"Congenital toxoplasmosis associated with tractional retinal detachment","volume":"15","author":"Rassi","year":"2021","journal-title":"Retin. Cases Brief Rep."},{"key":"ref_2","unstructured":"Tout\u00e9e, A., Or\u00e8s, R., Mrejen, S., Bodaghi, B., Kobal, A., Merabet, L., Brignole-Baudouin, F., Sahel, J.A., Nghiem-Buffet, S., and Errera, M.H. (2019). New optical coherence tomography angiography findings on an intraretinal vascular process secondary to toxoplasma retinochoroiditis: 2 case reports. Retin. Cases Brief Rep."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1097\/00055735-200212000-00008","article-title":"Atypical presentations of ocular toxoplasmosis","volume":"13","author":"Smith","year":"2002","journal-title":"Curr. Opin. Ophthalmol."},{"key":"ref_4","doi-asserted-by":"crossref","unstructured":"Traboulsi, E. (2012). Pigmentary retinopathy in systemic inherited disease. Genetic Diseases of the Eye, Oxford University Press. [2nd ed.].","DOI":"10.1093\/med\/9780195326147.001.0001"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"238","DOI":"10.2174\/138920211795860107","article-title":"Retinitis pigmentosa: Genes and disease mechanisms","volume":"12","author":"Ferrari","year":"2011","journal-title":"Curr. Genom."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"bcr2013202236","DOI":"10.1136\/bcr-2013-202236","article-title":"Unilateral retinitis pigmentosa: 30 years follow-up","volume":"2014","author":"Weller","year":"2014","journal-title":"BMJ Case Rep."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s10633-011-9296-8","article-title":"ISCEV standard for clinical multifocal electroretinography (mfERG) (2011 edition)","volume":"124","author":"Hood","year":"2012","journal-title":"Doc. 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Inflamm."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1159\/000449169","article-title":"Recent developments in the diagnosis and treatment of ocular toxoplasmosis","volume":"57","author":"Ozgonul","year":"2017","journal-title":"Ophthalmic Res."},{"key":"ref_12","first-page":"394","article-title":"Sudden Visual Deterioration as the First Symptom of Chronic Kidney Failure","volume":"28","year":"2015","journal-title":"Case Rep. Ophthalmol."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"954","DOI":"10.1001\/archophthalmol.2011.171","article-title":"Unilateral retinitis pigmentosa occurring in an individual with a germline mutation in the RP1 gene","volume":"129","author":"Mukhopadhyay","year":"2011","journal-title":"Arch. 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Ophthalmol."}],"container-title":["Medicina"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/1648-9144\/57\/9\/892\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T06:54:05Z","timestamp":1760165645000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/1648-9144\/57\/9\/892"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,8,27]]},"references-count":14,"journal-issue":{"issue":"9","published-online":{"date-parts":[[2021,9]]}},"alternative-id":["medicina57090892"],"URL":"https:\/\/doi.org\/10.3390\/medicina57090892","relation":{},"ISSN":["1648-9144"],"issn-type":[{"type":"electronic","value":"1648-9144"}],"subject":[],"published":{"date-parts":[[2021,8,27]]}}}