{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,17]],"date-time":"2026-01-17T23:13:12Z","timestamp":1768691592091,"version":"3.49.0"},"reference-count":27,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2013,12]]},"DOI":"10.1097\/mop.0000000000000026","type":"journal-article","created":{"date-parts":[[2013,11,14]],"date-time":"2013-11-14T08:46:47Z","timestamp":1384418807000},"page":"645-652","source":"Crossref","is-referenced-by-count":5,"title":["Advances in the genetics of eye diseases"],"prefix":"10.1097","volume":"25","author":[{"given":"Stephanie","family":"Chan","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paul R.","family":"Freund","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ian","family":"MacDonald","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"276","reference":[{"key":"R1-3-20210206","doi-asserted-by":"crossref","first-page":"636","DOI":"10.1136\/jmedgenet-2012-101132","article-title":"Mutations in TMEM231 cause Joubert syndrome in French Canadians.","volume":"49","author":"Srour","year":"2012","journal-title":"J Med Genet"},{"key":"R2-3-20210206","doi-asserted-by":"crossref","first-page":"693","DOI":"10.1016\/j.ajhg.2012.02.011","article-title":"Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.","volume":"90","author":"Srour","year":"2012","journal-title":"Am J Hum Genet"},{"key":"R3-3-20210206","doi-asserted-by":"crossref","first-page":"633","DOI":"10.1038\/jhg.2012.79","article-title":"USH1K, a novel locus for type I Usher syndrome, maps to chromosome 10p11.21-q21.1.","volume":"57","author":"Jaworek","year":"2012","journal-title":"J Hum Genet"},{"key":"R4-3-20210206","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1038\/nature11823","article-title":"A direct and melanopsin-dependent fetal light response regulates mouse eye development.","volume":"494","author":"Rao","year":"2013","journal-title":"Nature"},{"key":"R5-3-20210206","doi-asserted-by":"crossref","first-page":"314","DOI":"10.1038\/ng.2554","article-title":"Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.","volume":"45","author":"Verhoeven","year":"2013","journal-title":"Nat Genet"},{"key":"R6-3-20210206","doi-asserted-by":"crossref","first-page":"624","DOI":"10.1017\/thg.2012.22","article-title":"Heritability of strabismus: genetic influence is specific to eso-deviation and independent of refractive error.","volume":"15","author":"Sanfilippo","year":"2012","journal-title":"Twin Res Hum Genet"},{"key":"R7-3-20210206","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1186\/1756-0500-6-103","article-title":"Investigation of VSX1 sequence variants in South Indian patients with sporadic cases of keratoconus.","volume":"6","author":"Verma","year":"2013","journal-title":"BMC Res Notes"},{"key":"R8-3-20210206","doi-asserted-by":"crossref","first-page":"2207","DOI":"10.1167\/iovs.13-11592","article-title":"Substitution at IL1RN and deletion at SLC4A11 segregating with phenotype in familial keratoconus.","volume":"54","author":"Nowak","year":"2013","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"R9-3-20210206","doi-asserted-by":"crossref","first-page":"4458","DOI":"10.1167\/iovs.11-9166","article-title":"Retinal phenotypes in patients homozygous for the G1961E mutation in the ABCA4 gene.","volume":"53","author":"Burke","year":"2012","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"R10-3-20210206","first-page":"227","article-title":"Familial discordance in Stargardt disease.","volume":"18","author":"Burke","year":"2012","journal-title":"Mol Vis"},{"key":"R11-3-20210206","doi-asserted-by":"crossref","first-page":"1228","DOI":"10.1016\/j.ophtha.2003.10.023","article-title":"Incidence of retinoblastoma from 1958 to 1998 in Northern Europe: advantages of birth cohort analysis.","volume":"111","author":"Seregard","year":"2004","journal-title":"Ophthalmology"},{"key":"R13-3-20210206","doi-asserted-by":"crossref","first-page":"e34120","DOI":"10.1371\/journal.pone.0034120","article-title":"Ophthalmic artery chemosurgery for less advanced retinoblastoma: five year review.","volume":"7","author":"Abramson","year":"2012","journal-title":"PLoS One"},{"key":"R14-3-20210206","doi-asserted-by":"crossref","first-page":"425","DOI":"10.1172\/JCI57114","article-title":"Understanding pRb: toward the necessary development of targeted treatments for retinoblastoma.","volume":"122","author":"Sachdeva","year":"2012","journal-title":"J Clin Invest"},{"key":"R15-3-20210206","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1016\/S1470-2045(13)70045-7","article-title":"Characterisation of retinoblastomas without RB1 mutations: genomic, gene expression, and clinical studies.","volume":"14","author":"Rushlow","year":"2013","journal-title":"Lancet Oncol"},{"key":"R16-3-20210206","doi-asserted-by":"crossref","first-page":"167","DOI":"10.3109\/13816810.2011.559651","article-title":"GPR143 gene mutation analysis in pediatric patients with albinism.","volume":"33","author":"Trebusak Podkrajsek","year":"2012","journal-title":"Ophthalmic Genet"},{"key":"R17-3-20210206","doi-asserted-by":"crossref","first-page":"18","DOI":"10.3109\/13816810.2011.620055","article-title":"Differentiating Alstrom from Bardet-Biedl syndrome (BBS) using systematic ciliopathy genes sequencing.","volume":"33","author":"Aliferis","year":"2012","journal-title":"Ophthalmic Genet"},{"key":"R18-3-20210206","first-page":"1051","article-title":"Understanding the impact of genetic testing for inherited retinal dystrophy.","volume":"97","author":"Combs","year":"2013","journal-title":"Eur J Hum Genet"},{"key":"R19-3-20210206","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1586\/eop.11.2","article-title":"Advantages and disadvantages of molecular testing in ophthalmology.","volume":"6","author":"Sutherland","year":"2011","journal-title":"Expert Rev Ophthalmol"},{"key":"R20-3-20210206","doi-asserted-by":"crossref","first-page":"2408","DOI":"10.1016\/j.ophtha.2012.05.047","article-title":"Recommendations for genetic testing of inherited eye diseases: report of the American Academy of Ophthalmology task force on genetic testing.","volume":"119","author":"Stone","year":"2012","journal-title":"Ophthalmology"},{"key":"R21-3-20210206","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1097\/ICU.0b013e32835715c9","article-title":"eyeGENE(R): a novel approach to combine clinical testing and researching genetic ocular disease.","volume":"23","author":"Goetz","year":"2012","journal-title":"Curr Opin Ophthalmol"},{"key":"R22-3-20210206","doi-asserted-by":"crossref","first-page":"322","DOI":"10.1136\/jmedgenet-2012-100847","article-title":"A paradigm shift in the delivery of services for diagnosis of inherited retinal disease.","volume":"49","author":"OSullivan","year":"2012","journal-title":"J Med Genet"},{"key":"R23-3-20210206","doi-asserted-by":"crossref","first-page":"891","DOI":"10.1038\/gim.2012.73","article-title":"Next-generation sequencing in health-care delivery: lessons from the functional analysis of rhodopsin.","volume":"14","author":"Davies","year":"2012","journal-title":"Genet Med"},{"key":"R24-3-20210206","doi-asserted-by":"crossref","first-page":"3463","DOI":"10.1167\/iovs.12-9519","article-title":"Mutations in RD3 are associated with an extremely rare and severe form of early onset retinal dystrophy.","volume":"53","author":"Preising","year":"2012","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"R25-3-20210206","doi-asserted-by":"crossref","first-page":"3894","DOI":"10.1093\/hmg\/ddt244","article-title":"RD3 gene delivery restores guanylate cyclase localization and rescues photoreceptors in the Rd3 mouse model of Leber congenital amaurosis 12.","volume":"19","author":"Molday","year":"2013","journal-title":"Hum Mol Genet"},{"key":"R26-3-20210206","doi-asserted-by":"crossref","first-page":"e59101","DOI":"10.1371\/journal.pone.0059101","article-title":"Ectopic expression of human BBS4 can rescue Bardet-Biedl syndrome phenotypes in Bbs4 null mice.","volume":"8","author":"Chamling","year":"2013","journal-title":"PLoS One"},{"key":"R27-3-20210206","doi-asserted-by":"crossref","first-page":"1283","DOI":"10.1016\/j.ophtha.2012.11.048","article-title":"Three-year follow-up after unilateral subretinal delivery of adeno-associated virus in patients with Leber congenital amaurosis type 2.","volume":"120","author":"Testa","year":"2013","journal-title":"Ophthalmology"},{"key":"R28-3-20210206","doi-asserted-by":"crossref","first-page":"E517","DOI":"10.1073\/pnas.1218933110","article-title":"Human retinal gene therapy for Leber congenital amaurosis shows advancing retinal degeneration despite enduring visual improvement.","volume":"110","author":"Cideciyan","year":"2013","journal-title":"Proc Natl Acad Sci U S A"}],"container-title":["Current Opinion in Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.lww.com\/10.1097\/MOP.0000000000000026","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,5,14]],"date-time":"2021-05-14T03:28:01Z","timestamp":1620962881000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.lww.com\/00008480-201312000-00003"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,12]]},"references-count":27,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2013]]}},"URL":"https:\/\/doi.org\/10.1097\/mop.0000000000000026","relation":{},"ISSN":["1040-8703"],"issn-type":[{"value":"1040-8703","type":"print"}],"subject":[],"published":{"date-parts":[[2013,12]]}}}