{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,2,17]],"date-time":"2024-02-17T00:29:40Z","timestamp":1708129780694},"reference-count":11,"publisher":"Springer Science and Business Media LLC","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,2,16]]},"DOI":"10.7759\/cureus.54295","type":"journal-article","created":{"date-parts":[[2024,2,16]],"date-time":"2024-02-16T13:53:56Z","timestamp":1708091636000},"source":"Crossref","is-referenced-by-count":0,"title":["Unilateral Cataract and Retinitis Pigmentosa in a Patient With Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract (PHARC) Syndrome: A Case Report"],"prefix":"10.7759","author":[{"given":"Miguel E","family":"Hern\u00e1ndez-Emanuelli","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andres","family":"Emanuelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Natalio","family":"Izquierdo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000333664.90605.23","article-title":"A novel Refsum-like disorder that maps to chromosome 20","volume":"72","author":"Fiskerstrand T","year":"2009","unstructured":"Fiskerstrand T, Knappskog P, Majewski J, Wanders RJ, Boman H, Bindoff LA. A novel Refsum-like disorder that maps to chromosome 20. Neurology. 2009, 72:20-7. 10.1212\/01.wnl.0000333664.90605.23","journal-title":"Neurology"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.08.002","article-title":"Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism","volume":"87","author":"Fiskerstrand T","year":"2010","unstructured":"Fiskerstrand T, H'mida-Ben Brahim D, Johansson S, et al.. Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism. Am J Hum Genet. 2010, 87:410-7. 10.1016\/j.ajhg.2010.08.002","journal-title":"Am J Hum Genet"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1002\/mdc3.13266","article-title":"PHARC syndrome, a rare genetic disorder\u2014case report","volume":"8","author":"Dias Bastos PA","year":"2021","unstructured":"Dias Bastos PA, Mendon\u00e7a M, Lampreia T, Magri\u00e7o M, Oliveira J, Barbosa R. PHARC syndrome, a rare genetic disorder\u2014case report. Mov Disord Clin Pract. 2021, 8:977-9. 10.1002\/mdc3.13266","journal-title":"Mov Disord Clin Pract"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.3390\/genes12091404","article-title":"The phenotypic spectrum of patients with PHARC syndrome due to variants in ABHD12: An ophthalmic perspective","volume":"12","author":"Nguyen XT","year":"2021","unstructured":"Nguyen XT, Almushattat H, Strubbe I, et al.. The phenotypic spectrum of patients with PHARC syndrome due to variants in ABHD12: An ophthalmic perspective. Genes. 2021, 12:1404. 10.3390\/genes12091404","journal-title":"Genes"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1177\/0003489415574513","article-title":"Novel ABHD12 mutations in PHARC patients: the differential diagnosis of deaf-blindness","volume":"124","author":"Yoshimura H","year":"2015","unstructured":"Yoshimura H, Hashimoto T, Murata T, Fukushima K, Sugaya A, Nishio SY, Usami S. Novel ABHD12 mutations in PHARC patients: the differential diagnosis of deaf-blindness. Ann Otol Rhinol Laryngol. 2015, 124:77S-83S. 10.1177\/0003489415574513","journal-title":"Ann Otol Rhinol Laryngol"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1111\/jns.12216","article-title":"A complex homozygous mutation in ABHD12 responsible for PHARC syndrome discovered with NGS and review of the literature","volume":"22","author":"Lerat J","year":"2017","unstructured":"Lerat J, Cintas P, Beauvais-Dzugan H, Magdelaine C, Sturtz F, Lia AS. A complex homozygous mutation in ABHD12 responsible for PHARC syndrome discovered with NGS and review of the literature. J Peripher Nerv Syst. 2017, 22:77-84. 10.1111\/jns.12216","journal-title":"J Peripher Nerv Syst"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2018.02.021","article-title":"Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene","volume":"387","author":"Frasquet M","year":"2018","unstructured":"Frasquet M, Lupo V, Chumillas MJ, V\u00e1zquez-Costa JF, Espin\u00f3s C, Sevilla T. Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene. J Neurol Sci. 2018, 387:134-8. 10.1016\/j.jns.2018.02.021","journal-title":"J Neurol Sci"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2014.02.008","article-title":"Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration","volume":"121","author":"Nishiguchi KM","year":"2014","unstructured":"Nishiguchi KM, Avila-Fernandez A, van Huet RA, et al.. Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration. Ophthalmology. 2014, 121:1620-7. 10.1016\/j.ophtha.2014.02.008","journal-title":"Ophthalmology"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1080\/13816810.2023.2289449","article-title":"PHARC syndrome which an ultra-rare syndrome with retinitis pigmentosa and cataracts: Case report and review of the literature","author":"Demir S","year":"2024","unstructured":"Demir S, Sevik MO, Ersoy A, Geckinli BB, Sahin O, Arslan Ates E. PHARC syndrome which an ultra-rare syndrome with retinitis pigmentosa and cataracts: Case report and review of the literature. Ophthalmic Genet. 2024, 1-7. 10.1080\/13816810.2023.2289449","journal-title":"Ophthalmic Genet"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1016\/j.chembiol.2007.11.006","article-title":"A comprehensive profile of brain enzymes that hydrolyze the endocannabinoid 2-arachidonoylglycerol","volume":"14","author":"Blankman JL","year":"2007","unstructured":"Blankman JL, Simon GM, Cravatt BF. A comprehensive profile of brain enzymes that hydrolyze the endocannabinoid 2-arachidonoylglycerol. Chem Biol. 2007, 14:1347-56. 10.1016\/j.chembiol.2007.11.006","journal-title":"Chem Biol"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1217121110","article-title":"ABHD12 controls brain lysophosphatidylserine pathways that are deregulated in a murine model of the neurodegenerative disease PHARC","volume":"110","author":"Blankman JL","year":"2013","unstructured":"Blankman JL, Long JZ, Trauger SA, Siuzdak G, Cravatt BF. ABHD12 controls brain lysophosphatidylserine pathways that are deregulated in a murine model of the neurodegenerative disease PHARC. Proc Natl Acad Sci U S A. 2013, 110:1500-5. 10.1073\/pnas.1217121110","journal-title":"Proc Natl Acad Sci U S A"}],"container-title":["Cureus"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cureus.com\/articles\/156305-unilateral-cataract-and-retinitis-pigmentosa-in-a-patient-with-polyneuropathy-hearing-loss-ataxia-retinitis-pigmentosa-and-cataract-pharc-syndrome-a-case-report","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,16]],"date-time":"2024-02-16T13:53:59Z","timestamp":1708091639000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cureus.com\/articles\/156305-unilateral-cataract-and-retinitis-pigmentosa-in-a-patient-with-polyneuropathy-hearing-loss-ataxia-retinitis-pigmentosa-and-cataract-pharc-syndrome-a-case-report"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,2,16]]},"references-count":11,"URL":"https:\/\/doi.org\/10.7759\/cureus.54295","relation":{},"ISSN":["2168-8184"],"issn-type":[{"value":"2168-8184","type":"print"}],"subject":[],"published":{"date-parts":[[2024,2,16]]}}}