{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T19:44:16Z","timestamp":1791229456982,"version":"4.1.0"},"reference-count":27,"publisher":"MDPI AG","issue":"11","license":[{"start":{"date-parts":[[2024,5,25]],"date-time":"2024-05-25T00:00:00Z","timestamp":1716595200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Retinitis pigmentosa (RP) is an inherited retinal dystrophy caused by the loss of photoreceptors and retinal pigment epithelial atrophy, leading to severe visual impairment or blindness. RP can be classified as nonsyndromic or syndromic with complex clinical phenotypes. Three unrelated Polish probands affected with retinitis pigmentosa coexisting with cerebellar ataxia were recruited for this study. Clinical heterogeneity and delayed appearance of typical disease symptoms significantly prolonged the patients\u2019 diagnostic process. Therefore, many clinical and genetic tests have been performed in the past. Here, we provide detailed clinical and genetic analysis results of the patients. Whole-exome sequencing (WES) and targeted NGS analysis allow the identification of four novel and two previously reported variants in the following genes: ABHD12, FLVCR1, and PNPLA6. The use of next-generation sequencing (NGS) methods finally allowed for confirmation of the clinical diagnosis. Ultra-rare diseases such as PHARC, PCARP, and Oliver\u2013McFarlane syndromes were diagnosed in patients, respectively. Our findings confirmed the importance of the application of next-generation sequencing methods, especially in ultra-rare genetic disorders with overlapping features.<\/jats:p>","DOI":"10.3390\/ijms25115759","type":"journal-article","created":{"date-parts":[[2024,5,27]],"date-time":"2024-05-27T10:12:27Z","timestamp":1716804747000},"page":"5759","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Coexistence of Retinitis Pigmentosa and Ataxia in Patients with PHARC, PCARP, and Oliver\u2013McFarlane Syndromes"],"prefix":"10.3390","volume":"25","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9473-2733","authenticated-orcid":false,"given":"Anna","family":"Wawrocka","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, Poznan University of Medical Sciences, 60-806 Poznan, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joanna","family":"Walczak-Sztulpa","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Poznan University of Medical Sciences, 60-806 Poznan, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7783-6370","authenticated-orcid":false,"given":"Lukasz","family":"Kuszel","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Poznan University of Medical Sciences, 60-806 Poznan, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zuzanna","family":"Niedziela-Schwartz","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, University Clinical Hospital in Poznan, 60-569 Poznan, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8847-1776","authenticated-orcid":false,"given":"Anna","family":"Skorczyk-Werner","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Poznan University of Medical Sciences, 60-806 Poznan, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-2131-610X","authenticated-orcid":false,"given":"Jadwiga","family":"Bernardczyk-Meller","sequence":"additional","affiliation":[{"name":"Specialized Ophthalmology Office and Eye Electrophysiology Laboratory, ERETINA, 60-189 Poznan, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4268-7707","authenticated-orcid":false,"given":"Maciej R.","family":"Krawczynski","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Poznan University of Medical Sciences, 60-806 Poznan, Poland"},{"name":"Centers for Medical Genetics GENESIS, 60-406 Poznan, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,5,25]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1795","DOI":"10.1016\/S0140-6736(06)69740-7","article-title":"Retinitis pigmentosa","volume":"368","author":"Hartong","year":"2006","journal-title":"Lancet"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1016\/j.preteyeres.2018.03.005","article-title":"Non-syndromic retinitis pigmentosa","volume":"66","author":"Verbakel","year":"2018","journal-title":"Prog. 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