{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,31]],"date-time":"2026-01-31T01:33:23Z","timestamp":1769823203726,"version":"3.49.0"},"reference-count":15,"publisher":"BMJ","issue":"11","license":[{"start":{"date-parts":[[2023,11,14]],"date-time":"2023-11-14T00:00:00Z","timestamp":1699920000000},"content-version":"unspecified","delay-in-days":13,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2023,10,20]]},"published-print":{"date-parts":[[2023,11]]},"abstract":"<jats:p>A female patient in her 20s presented to a routine ophthalmology appointment. Medical history was unremarkable. Family history was notable for intestinal cancer of a second-degree relative, diagnosed in her late 60s. Fundus examination revealed bilateral, multiple, flat, oval, pigmented lesions with an irregular halo of atrophy. The patient was diagnosed with atypical congenital hypertrophy of retinal pigmented epithelium. Investigation of extraocular associations was performed, including upper and lower endoscopy, which revealed 500\u20131000 colonic polyps with a maximum size 25\u2009mm. Pathology did not reveal submucosal invasion. Genetic testing detected an adenomatous polyposis coli mutation (heterozygotic variant c.3183_3187delACAAA p.(Gln1062*)).<\/jats:p>","DOI":"10.1136\/bcr-2022-254350","type":"journal-article","created":{"date-parts":[[2023,11,14]],"date-time":"2023-11-14T12:05:25Z","timestamp":1699963525000},"page":"e254350","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["Atypical hypertrophy of retinal pigment epithelium manifesting as the first sign of familial adenomatous polyposis"],"prefix":"10.1136","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8281-2333","authenticated-orcid":false,"given":"Jo\u00e3o","family":"Ponces Ramalh\u00e3o","sequence":"first","affiliation":[{"name":"Departamento de Oftalmologia, Centro Hospitalar Universit\u00e1rio de Santo Ant\u00f3nio, Porto, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miguel","family":"Afonso","sequence":"additional","affiliation":[{"name":"Departamento de Oftalmologia, Centro Hospitalar Universit\u00e1rio de Santo Ant\u00f3nio, Porto, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mafalda","family":"Macedo","sequence":"additional","affiliation":[{"name":"Departamento de Oftalmologia, Centro Hospitalar Universit\u00e1rio de Santo Ant\u00f3nio, Porto, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Ara\u00fajo","sequence":"additional","affiliation":[{"name":"Departamento de Oftalmologia, Centro Hospitalar Universit\u00e1rio de Santo Ant\u00f3nio, Porto, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2023,11,14]]},"reference":[{"key":"2025082711195504000_16.11.e254350.1","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1975.01010020840002"},{"key":"2025082711195504000_16.11.e254350.2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1475-1313.2007.00513.x"},{"key":"2025082711195504000_16.11.e254350.3","doi-asserted-by":"publisher","DOI":"10.1136\/gut.2007.136127"},{"key":"2025082711195504000_16.11.e254350.4","doi-asserted-by":"crossref","unstructured":"Maceroni M . Pigmented lesions of ocular fundus: clinical aspects. BJSTR 2019;13. doi:10.26717\/BJSTR.2019.13.002477","DOI":"10.26717\/BJSTR.2019.13.002477"},{"key":"2025082711195504000_16.11.e254350.5","doi-asserted-by":"crossref","first-page":"184","DOI":"10.1159\/000445497","article-title":"Hyperpigmented torpedo maculopathy with pseudo-lacuna: a 5-year follow-up","volume":"7","author":"Rohl","year":"2016","journal-title":"Case Rep Ophthalmol"},{"key":"2025082711195504000_16.11.e254350.6","doi-asserted-by":"publisher","DOI":"10.1016\/S0161-6420(03)00618-3"},{"key":"2025082711195504000_16.11.e254350.7","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1975.01010020861007"},{"key":"2025082711195504000_16.11.e254350.8","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1016\/S0161-6420(93)31619-2","article-title":"Retinal vascular changes in congenital hypertrophy of the retinal pigment epithelium","volume":"100","author":"Cohen","year":"1993","journal-title":"Ophthalmology"},{"key":"2025082711195504000_16.11.e254350.9","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1007\/s00417-005-0011-x","article-title":"Adenocarcinoma arising from congenital hypertrophy of the retinal pigment epithelium","volume":"244","author":"Trichopoulos","year":"2006","journal-title":"Graefe\u2019s Arch Clin Exp Ophthalmo"},{"key":"2025082711195504000_16.11.e254350.10","doi-asserted-by":"crossref","first-page":"400","DOI":"10.1016\/S0161-6420(93)31635-0","article-title":"Histopathologic findings in congenital grouped pigmentation of the retina","volume":"100","author":"Regillo","year":"1993","journal-title":"Ophthalmology"},{"key":"2025082711195504000_16.11.e254350.11","doi-asserted-by":"crossref","first-page":"734","DOI":"10.1186\/1756-0500-7-734","article-title":"Congenital hypertrophy of retinal pigment epithelium (CHRPE) in patients with familial adenomatous polyposis (FAP); a polyposis registry experience","volume":"7","author":"Nusliha","year":"2014","journal-title":"BMC Res Notes"},{"key":"2025082711195504000_16.11.e254350.12","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20122"},{"key":"2025082711195504000_16.11.e254350.13","doi-asserted-by":"crossref","first-page":"765","DOI":"10.2147\/OPTH.S354761","article-title":"Congenital hypertrophy of the retinal pigment epithelium (CHRPE) as a screening marker for familial adenomatous polyposis (FAP): systematic literature review and screening recommendations","volume":"16","author":"Bonnet","year":"2022","journal-title":"Clin Ophthalmol"},{"key":"2025082711195504000_16.11.e254350.14","doi-asserted-by":"publisher","DOI":"10.1038\/ng828"},{"key":"2025082711195504000_16.11.e254350.15","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1111\/ceo.13643","article-title":"In patients with a positive family history of familial adenomatous polyposis can the condition be diagnosed from the presence of congenital hypertrophy of the retinal pigment epithelium detected via an eye examination: a systematic review","volume":"48","author":"Rehan","year":"2020","journal-title":"Clin Exp Ophthalmol"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2022-254350","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T18:20:04Z","timestamp":1756318804000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2022-254350"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,11]]},"references-count":15,"journal-issue":{"issue":"11","published-online":{"date-parts":[[2023,11,14]]},"published-print":{"date-parts":[[2023,11]]}},"alternative-id":["10.1136\/bcr-2022-254350"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2022-254350","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,11]]}}}