{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T23:33:07Z","timestamp":1790638387380,"version":"4.1.0"},"reference-count":13,"publisher":"Walter de Gruyter GmbH","issue":"1","license":[{"start":{"date-parts":[[2021,1,1]],"date-time":"2021-01-01T00:00:00Z","timestamp":1609459200000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,1,19]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Cohen syndrome (Q87.8;ORPHA:193; OMIM#216550) is an autosomal recessive inherited genetic disorder caused by mutation in the <jats:italic>VPS13B\/COH1<\/jats:italic> gene. It is characterized by variable clinical symptoms such as deformity of the head, face, hands and feet, eye abnormalities, abdominal obesity, neutropenia and nonprogressive intellectual disability. The typical lesions in the eyeball in Cohen syndrome include high myopia, retinal dystrophy, strabismus, maculopathy and lens subluxation. The present study describes the coexistence of bilateral macular edema with pale optic disc in a patient with a homozygous deletion in the <jats:italic>VPS13B\/COH1<\/jats:italic> gene.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Material and methods<\/jats:title>\n                  <jats:p>A 6-year-old Caucasian girl with facial dysmorphism, microcephaly, prominent upper incisors, narrow hands with slender fingers, congenital heart defect and ophthalmic symptoms was subjected to genetic testing. The genetic evaluation revealed a homozygous deletion on the long arm of chromosome 8 encompassing 20\u201325 exons of the <jats:italic>VPS13<\/jats:italic> gene, as confirmed by Cohen syndrome. She underwent a full ophthalmological examination with the assessment of slit lamp examination of anterior segment and fundoscopy, refraction error, biometry, central corneal thickness and additionally electroretinography, optical coherence tomography and fundus photography.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>In the ophthalmologic examination, the girl had bilateral astigmatism accompanied by myopia and a marked reduction in central corneal thickness. Fundus examination showed pale optic nerve discs and \u201csalt and pepper\u201d retinopathy. Bilateral cystic macular edema was revealed in handheld optical coherence tomography. Electroretinography showed a reduced response amplitude of cones and rods.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>In a patient with high myopia, macular edema, pale optic disc and facial dysmorphism, Cohen syndrome should be considered in the differential diagnosis. The severity of individual clinical features in patients with Cohen syndrome varies. It can be assumed that the type of mutation affects the occurrence and severity of individual symptoms.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/med-2021-0208","type":"journal-article","created":{"date-parts":[[2021,1,23]],"date-time":"2021-01-23T02:01:02Z","timestamp":1611367262000},"page":"156-160","source":"Crossref","is-referenced-by-count":4,"title":["Coexistence of bilateral macular edema and pale optic disc in the patient with Cohen syndrome"],"prefix":"10.1515","volume":"16","author":[{"given":"Klaudia","family":"Rakusiewicz","sequence":"first","affiliation":[{"name":"Department of Pediatric Ophthalmology, Children\u2019s Memorial Health Institute , Warsaw , Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Krystyna","family":"Kanigowska","sequence":"additional","affiliation":[{"name":"Department of Pediatric Ophthalmology, Children\u2019s Memorial Health Institute , Warsaw , Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wojciech","family":"Hautz","sequence":"additional","affiliation":[{"name":"Department of Pediatric Ophthalmology, Children\u2019s Memorial Health Institute , Warsaw , Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dorota","family":"Wicher","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Children\u2019s Memorial Health Institute , Warsaw , Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marlena","family":"M\u0142ynek","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Children\u2019s Memorial Health Institute , Warsaw , Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marta","family":"Wyszy\u0144ska","sequence":"additional","affiliation":[{"name":"Department of Pediatric Ophthalmology, Children\u2019s Memorial Health Institute , Warsaw , Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Rogowska","sequence":"additional","affiliation":[{"name":"Department of Pediatric Ophthalmology, Children\u2019s Memorial Health Institute , Warsaw , Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joanna","family":"J\u0119drzejczak-M\u0142odziejewska","sequence":"additional","affiliation":[{"name":"Department of Pediatric Ophthalmology, Children\u2019s Memorial Health Institute , Warsaw , Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ma\u0142gorzata","family":"Danowska","sequence":"additional","affiliation":[{"name":"Department of Pediatric Ophthalmology, Children\u2019s Memorial Health Institute , Warsaw , Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agnieszka","family":"Czeszyk","sequence":"additional","affiliation":[{"name":"Department of Pediatric Ophthalmology, Children\u2019s Memorial Health Institute , Warsaw , Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2021,1,19]]},"reference":[{"key":"2022091918202922438_j_med-2021-0208_ref_001","doi-asserted-by":"crossref","unstructured":"Rodrigues JM, Fernandes HD, Caruthers C, Braddock SR, Knutsen AP. Cohen syndrome: review of the literature. Cureus. 2018;10(9):e3330.","DOI":"10.7759\/cureus.3330"},{"key":"2022091918202922438_j_med-2021-0208_ref_002","doi-asserted-by":"crossref","unstructured":"Cohen MM, Hall BD, Smith DW, Graham CB, Lampert KJ. A new syndrome with hypotonia, obesity, mental deficiency and facial, oral, ocular and limb anomalies. J Pediatr. 1973;83:280\u20134.","DOI":"10.1016\/S0022-3476(73)80493-7"},{"key":"2022091918202922438_j_med-2021-0208_ref_003","doi-asserted-by":"crossref","unstructured":"Uyhazi KE, Binenbaum G, Carducci N, Zackai EH, Aleman TS. Early photoreceptor outer segment loss and retinoschisis in Cohen syndrome. Ophthalmic Genet. 2018;39(3):399\u2013404.","DOI":"10.1080\/13816810.2018.1459735"},{"key":"2022091918202922438_j_med-2021-0208_ref_004","doi-asserted-by":"crossref","unstructured":"Hennies HC, Rauch A, Seifert W, Schumi C, Moser E, Al-Taji E, et al. Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome. 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Ophthalmic Genet. 2016;37(4):377\u201383.","DOI":"10.3109\/13816810.2015.1101775"}],"container-title":["Open Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.degruyter.com\/view\/journals\/med\/16\/1\/article-p156.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/med-2021-0208\/xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/med-2021-0208\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,9,19]],"date-time":"2022-09-19T18:21:51Z","timestamp":1663611711000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/med-2021-0208\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,1,1]]},"references-count":13,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2021,3,30]]},"published-print":{"date-parts":[[2021,3,30]]}},"alternative-id":["10.1515\/med-2021-0208"],"URL":"https:\/\/doi.org\/10.1515\/med-2021-0208","relation":{},"ISSN":["2391-5463"],"issn-type":[{"value":"2391-5463","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,1,1]]}}}