{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,1,17]],"date-time":"2024-01-17T00:05:39Z","timestamp":1705449939639},"reference-count":18,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2013,12]]},"abstract":"<jats:sec>\n            <jats:title>Background:<\/jats:title>\n            <jats:p>Fifty to 60% of patients with dominant optic atrophy (DOA) have mutations of the <jats:italic toggle=\"yes\">OPA1<\/jats:italic> gene, which encodes dynamin-related GTPase, a protein of the internal mitochondrial membrane. To date, more than 200 <jats:italic toggle=\"yes\">OPA1<\/jats:italic> mutations in the <jats:italic toggle=\"yes\">OPA1<\/jats:italic> gene have been described. However, DOA is genetically heterogeneous with certain families linked to other chromosomal loci, that is, <jats:italic toggle=\"yes\">OPA3<\/jats:italic>, <jats:italic toggle=\"yes\">OPA4<\/jats:italic>, <jats:italic toggle=\"yes\">OPA5<\/jats:italic>, and <jats:italic toggle=\"yes\">OPA7<\/jats:italic>.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods:<\/jats:title>\n            <jats:p>This study describes a clinical series of 40 patients from Saudi Arabia with a positive DOA phenotype (i.e., decreased visual acuity during the first 2 decades of life, temporal or global optic disc pallor, and absence of other neurological or ophthalmological diseases that could explain the optic neuropathy) who underwent molecular genetic testing for <jats:italic toggle=\"yes\">OPA1<\/jats:italic> (and, in some cases, for <jats:italic toggle=\"yes\">OPA3<\/jats:italic>).<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results:<\/jats:title>\n            <jats:p>This study describes for the first time 4 <jats:italic toggle=\"yes\">OPA1<\/jats:italic> mutations in DOA patients from Saudi Arabia, including 2 novel <jats:italic toggle=\"yes\">OPA1<\/jats:italic> mutations in 2 different patients.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusion:<\/jats:title>\n            <jats:p>The question remains whether certain patients in Saudi Arabia with a clearly defined DOA phenotype may be due to mutations in chromosomal loci other than <jats:italic toggle=\"yes\">OPA1<\/jats:italic> and <jats:italic toggle=\"yes\">OPA3<\/jats:italic>. It is likely that genetic alterations associated with different loci will be discovered in the future.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1097\/wno.0b013e31829ffb9a","type":"journal-article","created":{"date-parts":[[2013,9,19]],"date-time":"2013-09-19T14:29:19Z","timestamp":1379600959000},"page":"349-353","source":"Crossref","is-referenced-by-count":2,"title":["First Cases of Dominant Optic Atrophy in Saudi Arabia"],"prefix":"10.1097","volume":"33","author":[{"given":"Alberto","family":"Galvez-Ruiz","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christine","family":"Neuhaus","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carsten","family":"Bergmann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hanno","family":"Bolz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"276","reference":[{"key":"R1-6-20240116","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1016\/j.preteyeres.2010.11.002","article-title":"Mitochondrial optic neuropathiesdisease mechanisms and therapeutic strategies.","volume":"30","author":"Yu-Wai-Man","year":"2011","journal-title":"Prog Retin Eye Res"},{"key":"R2-6-20240116","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1016\/j.survophthal.2009.10.002","article-title":"The neuro-ophthalmology of mitochondrial disease.","volume":"55","author":"Fraser","year":"2010","journal-title":"Surv Ophthalmol"},{"key":"R3-6-20240116","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1136\/jmg.2007.054270","article-title":"Inherited mitochondrial optic neuropathies.","volume":"46","author":"Yu-Wai-Man","year":"2009","journal-title":"J Med Genet"},{"key":"R4-6-20240116","doi-asserted-by":"crossref","first-page":"4288","DOI":"10.1167\/iovs.03-1407","article-title":"Expression of the Opa1 mitochondrial protein in retinal ganglion cells: its downregulation causes aggregation of the mitochondrial network.","volume":"46","author":"Kamei","year":"2005","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"R5-6-20240116","doi-asserted-by":"crossref","first-page":"352","DOI":"10.1093\/brain\/awm335","article-title":"OPA1 mutations associated with dominant optic atrophy impair oxidative phosphorylation and mitochondrial fusion.","volume":"131","author":"Zanna","year":"2008","journal-title":"Brain"},{"key":"R6-6-20240116","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1111\/j.1600-0420.1996.tb00672.x","article-title":"Dominant optic atrophy mapped to chromosome 3q region. 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