{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T21:40:43Z","timestamp":1762033243018},"reference-count":24,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2015,1,14]],"date-time":"2015-01-14T00:00:00Z","timestamp":1421193600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Korean Health Technology R&D Project, Ministry of Health & Welfare, Republic of Korea","award":["HI12C0014"],"award-info":[{"award-number":["HI12C0014"]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Exper Ophthalmology"],"published-print":{"date-parts":[[2015,7]]},"abstract":"Abstract<\/jats:title>Background<\/jats:title>Progressive retinal degeneration without retinal pigmentation has been repeatedly observed in K<\/jats:styled-content>orean nephronophthisis (NPHP<\/jats:styled-content>) type 1 patients with a total homozygous deletion of NPHP1<\/jats:italic><\/jats:styled-content>.<\/jats:p><\/jats:sec>Design<\/jats:title>Retrospective case series.<\/jats:p><\/jats:sec>Participants<\/jats:title>Patients with clinical diagnosis of NPHP<\/jats:styled-content> and genetic diagnosis of total deletion of NPHP1<\/jats:italic><\/jats:styled-content> (n<\/jats:italic>\u2009=\u20095) were included in this study.<\/jats:p><\/jats:sec>Methods<\/jats:title>Patients with clinical diagnosis of NPHP<\/jats:styled-content> (n<\/jats:italic>\u2009=\u200957) were screened for total deletion of NPHP1<\/jats:italic><\/jats:styled-content> by polymerase chain reaction (PCR<\/jats:styled-content>) for the 20 exons of NPHP1<\/jats:italic><\/jats:styled-content>. The clinical and ophthalmological findings of NPHP<\/jats:styled-content> type 1 patients were reviewed. Additionally, four exons of MALL<\/jats:italic><\/jats:styled-content>, a gene adjacent to NPHP1<\/jats:italic><\/jats:styled-content>, were amplified using PCR<\/jats:styled-content>, and amplification failure was considered a homozygous deletion encompassing the corresponding exons.<\/jats:p><\/jats:sec>Main Outcome Measure<\/jats:title>Ophthalmological findings in NPHP<\/jats:styled-content> type 1 patients.<\/jats:p><\/jats:sec>Results<\/jats:title>Five of 57 patients with clinical diagnosis of NPHP<\/jats:styled-content> were diagnosed as having NPHP<\/jats:styled-content> type 1 by genetic analysis. Chronic renal failure was diagnosed in these five patients at 7.9\u201315.4 years of age. All the patients with NPHP<\/jats:styled-content> type 1 had progressive decline in visual acuity with various ages of onset (2\u201317 years). Ophthalmological examinations revealed unexpected findings of retinopathy with large or small flecks, which was compatible with S<\/jats:styled-content>targardt\u2010like retinopathy or albipunctatus retinopathy in majority of them (four of five). The genetic study revealed an additional deletion of exon 1 of the adjacent gene MALL<\/jats:italic><\/jats:styled-content>.<\/jats:p><\/jats:sec>Conclusions<\/jats:title>We report the unexpectedly common retinal involvement of NPHP<\/jats:styled-content> type 1 with an additional MALL<\/jats:italic><\/jats:styled-content> deletion in a K<\/jats:styled-content>orean cohort.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ceo.12469","type":"journal-article","created":{"date-parts":[[2014,11,17]],"date-time":"2014-11-17T10:57:28Z","timestamp":1416221848000},"page":"437-442","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Atypical retinopathy in patients with nephronophthisis type 1: an uncommon ophthalmological finding"],"prefix":"10.1111","volume":"43","author":[{"given":"Hee Gyung","family":"Kang","sequence":"first","affiliation":[{"name":"Department of Pediatrics Seoul National University Children's Hospital Seoul Korea"},{"name":"Research Coordination Center for Rare Diseases Seoul National University Hospital Seoul Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yo Han","family":"Ahn","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Seoul National University Children's Hospital Seoul Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jeong Hun","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Seoul National University College of Medicine Seoul Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Il\u2010Soo","family":"Ha","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Seoul National University Children's Hospital Seoul Korea"},{"name":"Kidney Research Institute Medical Research Center Seoul National University College of Medicine Seoul Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Young Suk","family":"Yu","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Seoul National University College of Medicine Seoul Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yong\u2010Hoon","family":"Park","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Yeungnam University College of Medicine Daegu Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hae Il","family":"Cheong","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Seoul National University Children's Hospital Seoul Korea"},{"name":"Research Coordination Center for Rare Diseases Seoul National University Hospital Seoul Korea"},{"name":"Kidney Research Institute Medical Research Center Seoul National University College of Medicine Seoul 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