{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,5]],"date-time":"2025-02-05T05:16:22Z","timestamp":1738732582297,"version":"3.37.0"},"reference-count":13,"publisher":"Springer Science and Business Media LLC","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,2,4]]},"DOI":"10.7759\/cureus.78477","type":"journal-article","created":{"date-parts":[[2025,2,4]],"date-time":"2025-02-04T11:52:06Z","timestamp":1738669926000},"source":"Crossref","is-referenced-by-count":0,"title":["Retinal Detachment Accompanied by a Macular Hole in a Patient With ABCA4 and BEST1 Genetic Mutations"],"prefix":"10.7759","author":[{"given":"Basma","family":"Alqaseer","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mariam","family":"Bunajem","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.9.641","article-title":"The genetics of inherited macular dystrophies","volume":"40","author":"Michaelides M","year":"2003","unstructured":"Michaelides M, Hunt DM, Moore AT. The genetics of inherited macular dystrophies. J Med Genet. 2003, 40:641-50. 10.1136\/jmg.40.9.641","journal-title":"J Med Genet"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2016.12.002","article-title":"Stargardt disease-associated mutation spectrum of a Russian Federation cohort","volume":"60","author":"Zolnikova IV","year":"2017","unstructured":"Zolnikova IV, Strelnikov VV, Skvortsova NA, et al.. Stargardt disease-associated mutation spectrum of a Russian Federation cohort. Eur J Med Genet. 2017, 60:140-7. 10.1016\/j.ejmg.2016.12.002","journal-title":"Eur J Med Genet"},{"key":"ref3","article-title":"Novel compound heterozygous mutations in ABCA4 in a Chinese pedigree with Stargardt disease","volume":"22","author":"Zhang J","year":"2016","unstructured":"Zhang J, Qi A, Wang X, et al.. Novel compound heterozygous mutations in ABCA4 in a Chinese pedigree with Stargardt disease. Mol Vis. 2016, 22:1514-21.","journal-title":"Mol Vis"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1080\/13816810.2016.1266666","article-title":"Macular hole in Stargardt disease: clinical and ultra-structural observation","volume":"38","author":"Rizzo S","year":"2017","unstructured":"Rizzo S, Mucciolo DP, Bacherini D, et al.. Macular hole in Stargardt disease: clinical and ultra-structural observation. Ophthalmic Genet. 2017, 38:486-9. 10.1080\/13816810.2016.1266666","journal-title":"Ophthalmic Genet"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2012.01.005","article-title":"Clinical and genetic characteristics of late-onset Stargardt's disease","volume":"119","author":"Westeneng-van Haaften SC","year":"2012","unstructured":"Westeneng-van Haaften SC, Boon CJ, Cremers FP, Hoefsloot LH, den Hollander AI, Hoyng CB. Clinical and genetic characteristics of late-onset Stargardt's disease. Ophthalmology. 2012, 119:1199-210. 10.1016\/j.ophtha.2012.01.005","journal-title":"Ophthalmology"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1136\/bjophthalmol-2016-308823","article-title":"Stargardt disease: clinical features, molecular genetics, animal models and therapeutic options","volume":"101","author":"Tanna P","year":"2017","unstructured":"Tanna P, Strauss RW, Fujinami K, Michaelides M. Stargardt disease: clinical features, molecular genetics, animal models and therapeutic options. Br J Ophthalmol. 2017, 101:25-30. 10.1136\/bjophthalmol-2016-308823","journal-title":"Br J Ophthalmol"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1126\/science.277.5333.1805","article-title":"Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration","volume":"277","author":"Allikmets R","year":"1997","unstructured":"Allikmets R, Shroyer NF, Singh N, et al.. Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. Science. 1997, 277:1805-7. 10.1126\/science.277.5333.1805","journal-title":"Science"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.3109\/13816810.2015.1126614","article-title":"Bilateral macular holes and a new onset vitelliform lesion in Best disease","volume":"38","author":"Liu J","year":"2017","unstructured":"Liu J, Xuan Y, Zhang Y, Liu W, Xu G. Bilateral macular holes and a new onset vitelliform lesion in Best disease. Ophthalmic Genet. 2017, 38:79-82. 10.3109\/13816810.2015.1126614","journal-title":"Ophthalmic Genet"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2017-104540","article-title":"Frequent hypomorphic alleles account for a significant fraction of ABCA4 disease and distinguish it from age-related macular degeneration","volume":"54","author":"Zernant J","year":"2017","unstructured":"Zernant J, Lee W, Collison FT, et al.. Frequent hypomorphic alleles account for a significant fraction of ABCA4 disease and distinguish it from age-related macular degeneration. J Med Genet. 2017, 54:404-12. 10.1136\/jmedgenet-2017-104540","journal-title":"J Med Genet"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.4103\/0301-4738.151477","article-title":"Epiretinal membrane removal in patients with Stargardt disease","volume":"63","author":"Bhende M","year":"2015","unstructured":"Bhende M, Appukuttan B, Rishi E. Epiretinal membrane removal in patients with Stargardt disease. Indian J Ophthalmol. 2015, 63:66-8. 10.4103\/0301-4738.151477","journal-title":"Indian J Ophthalmol"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaapos.2007.07.004","article-title":"Spontaneous separation of epiretinal membrane in a child with Stargardt macular dystrophy","volume":"11","author":"Cakir M","year":"2007","unstructured":"Cakir M, Ceki\u00e7 O, Bayraktar S, Yilmaz OF. Spontaneous separation of epiretinal membrane in a child with Stargardt macular dystrophy. J AAPOS. 2007, 11:618-9. 10.1016\/j.jaapos.2007.07.004","journal-title":"J AAPOS"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1097\/00006982-200005000-00027","article-title":"Improvement in macular function after epiretinal membrane removal in a patient with Stargardt disease","volume":"20","author":"Potter MJ","year":"2000","unstructured":"Potter MJ, Lee AS, Moshaver A. Improvement in macular function after epiretinal membrane removal in a patient with Stargardt disease. Retina. 2000, 20:560-1. 10.1097\/00006982-200005000-00027","journal-title":"Retina"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1177\/112067210601600223","article-title":"Occurrence of full-thickness macular hole complicating Stargardt disease with ABCR mutation","volume":"16","author":"Sodi A","year":"2006","unstructured":"Sodi A, Bini A, Passerini I, Menchini U, Torricelli F. Occurrence of full-thickness macular hole complicating Stargardt disease with ABCR mutation. Eur J Ophthalmol. 2006, 16:335-8. 10.1177\/112067210601600223","journal-title":"Eur J Ophthalmol"}],"container-title":["Cureus"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cureus.com\/articles\/324827-retinal-detachment-accompanied-by-a-macular-hole-in-a-patient-with-abca4-and-best1-genetic-mutations","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,2,4]],"date-time":"2025-02-04T11:52:08Z","timestamp":1738669928000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cureus.com\/articles\/324827-retinal-detachment-accompanied-by-a-macular-hole-in-a-patient-with-abca4-and-best1-genetic-mutations"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,2,4]]},"references-count":13,"URL":"https:\/\/doi.org\/10.7759\/cureus.78477","relation":{},"ISSN":["2168-8184"],"issn-type":[{"value":"2168-8184","type":"print"}],"subject":[],"published":{"date-parts":[[2025,2,4]]}}}