H00633 | |
H number | H00633 |
Name | Duane retraction syndrome |
Description | Duane retraction syndrome (DRS) is a congenital disorder of eye movement that occurs in approximately 1 in 50 patients with strabismus. This condition prevents horizontal eye movement, with absence of outward movement and deficiency of inward movement. Normal ocular motility depends on precise relations between cranial motor neurons and their target, extraocular muscles. In DRS patients, absence of the abducens motor neurons and aberrant innervation of extraocular muscles by third cranial nerve have been reported. |
Category | Nervous system disease |
Network | - |
Gene | (DURS2) CHN1 [HSA:1123] [KO:K20630] (DURS3) MAFB [HSA:9935] [KO:K09036] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: 9C82.2 ICD-10: H50.8 MeSH: D004370 OMIM: 604356 617041 |
Reference | PMID:20801148 AUTHORS Yuksel D, Orban de Xivry JJ, Lefevre P TITLE Review of the major findings about Duane retraction syndrome (DRS) leading to an updated form of classification. JOURNAL Vision Res 50:2334-47 (2010) DOI:10.1016/j.visres.2010.08.019 PMID:18653847 (CHN1) AUTHORS Miyake N, Chilton J, Psatha M, Cheng L, Andrews C, Chan WM, Law K, Crosier M, Lindsay S, Cheung M, Allen J, Gutowski NJ, Ellard S, Young E, Iannaccone A, Appukuttan B, Stout JT, Christiansen S, Ciccarelli ML, Baldi A, Campioni M, Zenteno JC, Davenport D, Mariani LE, Sahin M, Guthrie S, Engle EC TITLE Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome. JOURNAL Science 321:839-43 (2008) DOI:10.1126/science.1156121 PMID:27181683 (MAFB) AUTHORS Park JG, Tischfield MA, Nugent AA, Cheng L, Di Gioia SA, Chan WM, Maconachie G, Bosley TM, Summers CG, Hunter DG, Robson CD, Gottlob I, Engle EC TITLE Loss of MAFB Function in Humans and Mice Causes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects. JOURNAL Am J Hum Genet 98:1220-1227 (2016) DOI:10.1016/j.ajhg.2016.03.023 |