{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T08:55:14Z","timestamp":1781081714415,"version":"3.54.1"},"reference-count":9,"publisher":"American Medical Association (AMA)","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JAMA Ophthalmol"],"published-print":{"date-parts":[[2021,3,1]]},"DOI":"10.1001\/jamaophthalmol.2020.6085","type":"journal-article","created":{"date-parts":[[2021,1,28]],"date-time":"2021-01-28T23:55:58Z","timestamp":1611878158000},"page":"339","source":"Crossref","is-referenced-by-count":10,"title":["Association of the Recurrent Rare Variant c.415T&amp;gt;C p.Phe139Leu in <i>CLN5<\/i> With a Recessively Inherited Macular Dystrophy"],"prefix":"10.1001","volume":"139","author":[{"given":"Moustafa S.","family":"Magliyah","sequence":"first","affiliation":[{"name":"Vitreoretinal Division, King Khaled Eye Specialist Hospital, Riyadh, Kingdom of Saudi Arabia"},{"name":"Ophthalmology Department, Prince Mohammed Medical City, AlJouf, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sinje","family":"Geuer","sequence":"additional","affiliation":[{"name":"Human Genetics Bioscientia Ingelheim, Ingelheim am Rhein, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abrar K.","family":"Alsalamah","sequence":"additional","affiliation":[{"name":"Vitreoretinal Division, King Khaled Eye Specialist Hospital, Riyadh, Kingdom of Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steffen","family":"Lenzner","sequence":"additional","affiliation":[{"name":"Human Genetics Bioscientia Ingelheim, Ingelheim am Rhein, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mojgan","family":"Drasdo","sequence":"additional","affiliation":[{"name":"Human Genetics Bioscientia Ingelheim, Ingelheim am Rhein, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrik","family":"Schatz","sequence":"additional","affiliation":[{"name":"Vitreoretinal Division, King Khaled Eye Specialist Hospital, Riyadh, Kingdom of Saudi Arabia"},{"name":"Department of Ophthalmology, Clinical Sciences, Scane County University Hospital, University of Lund, Lund, Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"10","reference":[{"issue":"1","key":"ebr200017r1","doi-asserted-by":"publisher","first-page":"107","DOI":"10.1016\/S1474-4422(18)30368-5","article-title":"Clinical challenges and future therapeutic approaches for neuronal ceroid lipofuscinosis.","volume":"18","author":"Mole","year":"2019","journal-title":"Lancet Neurol"},{"issue":"1","key":"ebr200017r2","doi-asserted-by":"publisher","first-page":"173","DOI":"10.1007\/s00415-014-7553-y","article-title":"Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations.","volume":"262","author":"Mancini","year":"2015","journal-title":"J Neurol"},{"issue":"23","key":"ebr200017r3","doi-asserted-by":"publisher","first-page":"e2436","DOI":"10.1212\/WNL.0000000000009454","article-title":"The CLN3 Disease Staging System: a new tool for clinical research in Batten disease.","volume":"94","author":"Masten","year":"2020","journal-title":"Neurology"},{"issue":"6","key":"ebr200017r4","doi-asserted-by":"publisher","first-page":"588","DOI":"10.1080\/13816810.2019.1709125","article-title":"Multimodal retinal imaging in MFSD8-neuronal ceroid lipofuscinosis.","volume":"40","author":"Magliyah","year":"2019","journal-title":"Ophthalmic Genet"},{"issue":"1","key":"ebr200017r5","doi-asserted-by":"publisher","first-page":"170","DOI":"10.1016\/j.ophtha.2014.07.040","article-title":"Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophy.","volume":"122","author":"Roosing","year":"2015","journal-title":"Ophthalmology"},{"issue":"2","key":"ebr200017r6","doi-asserted-by":"publisher","first-page":"141","DOI":"10.1080\/13816810.2019.1592200","article-title":"MFSD8 gene mutations; evidence for phenotypic heterogeneity.","volume":"40","author":"Zare-Abdollahi","year":"2019","journal-title":"Ophthalmic Genet"},{"issue":"7","key":"ebr200017r7","doi-asserted-by":"publisher","first-page":"2906","DOI":"10.1167\/iovs.16-20608","article-title":"Specific alleles of CLN7\/MFSD8, a protein that localizes to photoreceptor synaptic terminals, cause a spectrum of nonsyndromic retinal dystrophy.","volume":"58","author":"Khan","year":"2017","journal-title":"Invest Ophthalmol Vis Sci"},{"issue":"7","key":"ebr200017r8","doi-asserted-by":"publisher","first-page":"749","DOI":"10.1001\/jamaophthalmol.2017.1401","article-title":"Detailed clinical phenotype and molecular genetic findings in CLN3-associated isolated retinal degeneration.","volume":"135","author":"Ku","year":"2017","journal-title":"JAMA Ophthalmol"},{"issue":"20","key":"ebr200017r9","doi-asserted-by":"publisher","first-page":"2191","DOI":"10.1001\/jama.2013.281053","article-title":"World Medical Association Declaration of Helsinki: ethical principles for medical research involving human subjects.","volume":"310","author":"World Medical Association","year":"2013","journal-title":"JAMA"}],"container-title":["JAMA Ophthalmology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/jamanetwork.com\/journals\/jamaophthalmology\/articlepdf\/2775576\/jamaophthalmology_magliyah_2021_br_200017_1615324760.44933.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,3,17]],"date-time":"2021-03-17T15:01:41Z","timestamp":1615993301000},"score":1,"resource":{"primary":{"URL":"https:\/\/jamanetwork.com\/journals\/jamaophthalmology\/fullarticle\/2775576"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,3,1]]},"references-count":9,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2021,3,1]]}},"URL":"https:\/\/doi.org\/10.1001\/jamaophthalmol.2020.6085","relation":{},"ISSN":["2168-6165"],"issn-type":[{"value":"2168-6165","type":"print"}],"subject":[],"published":{"date-parts":[[2021,3,1]]}}}