Congenital optic nerve anomalies and hereditary optic neuropathies

被引:4
作者
Heidary, Gena [1 ]
机构
[1] Harvard Med Sch, Boston Childrens Hosp, Dept Ophthalmol, Boston, MA USA
关键词
Optic nerve; coloboma; optic nerve hypoplasia; hereditary optic neuropathy; Aicardi syndrome; optic nerve drusen; optic nerve pit; morning glory disc;
D O I
10.3233/PGE-14108
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
Congenital and hereditary optic nerve anomalies represent a significant cause of visual dysfunction. While some optic nerve abnormalities affect the visual system alone, others may be associated with neurologic and systemic findings. Correct identification of the optic nerve disease therefore is crucial both for developing a treatment plan with respect to visual rehabilitation, but also for initiating the appropriate multidisciplinary evaluation. The purpose of this review is to highlight common examples of congenital and inherited optic nerve abnormalities in an effort to familiarize the clinician with salient clinical features of these diseases and to review important systemic testing when relevant.
引用
收藏
页码:271 / 280
页数:10
相关论文
共 73 条
[1]  
Aggarwal K C, 2000, Indian Pediatr, V37, P542
[2]  
Ahmad T, 2006, J PEDIATR-US, V148, P78, DOI 10.1016/j.jpeds.2005.08.050
[3]  
Ahmad Tariq, 2008, Pediatr Endocrinol Rev, V5, P772
[4]   Aicardi syndrome [J].
Aicardi, J .
BRAIN & DEVELOPMENT, 2005, 27 (03) :164-171
[5]   A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2 [J].
Amr, Sami ;
Heisey, Cindy ;
Zhang, Min ;
Xia, Xia-Juan ;
Shows, Kathryn H. ;
Ajlouni, Kamel ;
Pandya, Arti ;
Satin, Leslie S. ;
El-Shanti, Hatem ;
Shiang, Rita .
AMERICAN JOURNAL OF HUMAN GENETICS, 2007, 81 (04) :673-683
[6]   Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome):: Identification of the OPA3 gene and its founder mutation in Iraqi Jews [J].
Anikster, Y ;
Kleta, R ;
Shaag, A ;
Gahl, WA ;
Elpeleg, O .
AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (06) :1218-1224
[7]   Mutations in C12orf65 in Patients with Encephalomyopathy and a Mitochondrial Translation Defect [J].
Antonicka, Hana ;
Ostergaard, Elsebet ;
Sasarman, Florin ;
Weraarpachai, Woranontee ;
Wibrand, Flemming ;
Pedersen, Anne Marie B. ;
Rodenburg, Richard J. ;
van der Knaap, Marjo S. ;
Smeitink, Jan A. M. ;
Chrzanowska-Lightowlers, Zofia M. ;
Shoubridge, Eric A. .
AMERICAN JOURNAL OF HUMAN GENETICS, 2010, 87 (01) :115-122
[8]  
BARBONI P, 2013, BRAIN 2, V136, DOI DOI 10.1093/BRAIN/AWS280
[9]   Early Macular Retinal Ganglion Cell Loss in Dominant Optic Atrophy: Genotype-Phenotype Correlation [J].
Barboni, Piero ;
Savini, Giacomo ;
Cascavilla, Maria Lucia ;
Caporali, Leonardo ;
Milesi, Jacopo ;
Borrelli, Enrico ;
La Morgia, Chiara ;
Valentino, Maria Lucia ;
Triolo, Giacinto ;
Lembo, Andrea ;
Carta, Arturo ;
De Negri, Annamaria ;
Sadun, Federico ;
Rizzo, Giovanni ;
Parisi, Vincenzo ;
Pierro, Luisa ;
Marzoli, Stefania Bianchi ;
Zeviani, Massimo ;
Sadun, Alfredo A. ;
Bandello, Francesco ;
Carelli, Valerio .
AMERICAN JOURNAL OF OPHTHALMOLOGY, 2014, 158 (03) :628-636
[10]  
BECK RW, 1985, ARCH OPHTHALMOL-CHIC, V103, P1155