{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,24]],"date-time":"2026-08-24T20:49:14Z","timestamp":1787604554981,"version":"build-2736575974"},"reference-count":22,"publisher":"Cold Spring Harbor Laboratory","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cold Spring Harb Mol Case Stud"],"published-print":{"date-parts":[[2019,6]]},"abstract":"<jats:p>ROM1 (retinal outer segment membrane protein 1) is a 351-amino acid integral membrane protein on Chromosome 11q, with high structural similarity to PRPH2\/RDS. Localized at the rims of photoreceptor outer segments (OSs), it is required for the maintenance of OS structure. Here, we describe a case with a phenotypic manifestation of a homozygous single-base pair deletion, c.712delC (p.Leu238Cysfs*78) in the <jats:italic>ROM1<\/jats:italic> gene, resulting in early termination at exon 2. The variant was detected by whole-exome sequencing (WES) in a 63-yr-old Caucasian woman with late-onset pattern macular dystrophy. Notably, although the phenotype resembles those caused by pathogenic variants in <jats:italic>ABCA4<\/jats:italic> or <jats:italic>RDS\/PRPH2<\/jats:italic>, no pathogenic variants in these, or any other plausible candidate genes, were identified by WES. Clinical features include the presence of hyperautofluorescent flecks, relative sparing of the central macula, and preserved visual acuity. Reduced visual sensitivity was detected among flecked regions in the retina; however, full-field electroretinogram testing revealed no generalized cone dysfunction. The described first case of the complete loss of ROM1 protein function in the retina suggests its sufficiency for late-onset macular dystrophy. <jats:italic>ROM1<\/jats:italic> and <jats:italic>PRPH2<\/jats:italic> pattern macular dystrophies exhibit phenotype overlap, which may be attributable to their shared role in maintenance of the photoreceptor outer segment structure.<\/jats:p>","DOI":"10.1101\/mcs.a003624","type":"journal-article","created":{"date-parts":[[2019,1,10]],"date-time":"2019-01-10T20:05:12Z","timestamp":1547150712000},"page":"a003624","source":"Crossref","is-referenced-by-count":11,"title":["Late-onset pattern macular dystrophy mimicking <i>ABCA4<\/i> and <i>PRPH2<\/i> disease is caused by a homozygous frameshift mutation in <i>ROM1<\/i>"],"prefix":"10.1101","volume":"5","author":[{"given":"Chu Jian","family":"Ma","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Winston","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicholas","family":"Stong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jana","family":"Zernant","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stanley","family":"Chang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Goldstein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takayuki","family":"Nagasaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rando","family":"Allikmets","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"246","published-online":{"date-parts":[[2019,1,10]]},"reference":[{"key":"2021112506172942000_5.3.a003624.1","first-page":"1028","article-title":"Localization of the photoreceptor gene ROM1 to human Chromosome 11 and mouse Chromosome 19: sublocalization to human 11q13 between PGA and PYGM","volume":"51","year":"1992","journal-title":"Am J Hum 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