Congenital Fibrosis of the Extraocular Muscles

被引：0

作者：

Niyaz, Leyla ^{[1
]}

Can, Ertugrul ^{[1
]}

机构：

[1] Ondokuz Mayis Univ, Tip Fak, Goz Hastaliklari Anabilim Dali, Samsun, Turkey

来源：

TURK OFTALMOLOJI DERGISI-TURKISH JOURNAL OF OPHTHALMOLOGY | 2014年 / 44卷 / 04期

关键词：

Strabismus; blepharoptosis; amblyopia;

D O I：

10.4274/tjo.67044

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

Congenital fibrosis of the extraocular muscles (CFEOM) is a rare disorder characterized by hereditary non-progressive restrictive strabismus and blepharoptosis. Although most of the cases are bilateral and isolated, some patients may have systemic findings. CFEOM is divided into three groups as CFEOM 1, 2, and 3 according to the phenotype. Primary responsible genes are KIF21A for CFEOM type 1 and 3 and PHOX2A/ARIX gene for CFEOM type 2. Studies suggest that abnormal innervation of the extraocular muscles is the cause of muscle fibrosis. Early treatment is important because of the risk of amblyopia. Surgery is the primary treatment option for strabismus and blepharoptosis.

引用

页码：312 / 315

页数：4

共 34 条

[1] Congenital innervation dysgenesis syndrome (CID)/congenital cranial dysinnervation disorders (CCDDs) [J].

Assaf, A. A. .

EYE, 2011, 25 (10) :1251-1261

[2] Assignment of a new congenital fibrosis of extraocular muscles type 3 (CFEOM3) locus, FEOM4, based on a balanced translocation t(2;13) (q37.3;q12.11) and identification of candidate genes [J].

Aubourg, P ;

Krahn, M ;

Bernard, R ;

Nguyen, K ;

Forzano, O ;

Boccaccio, I ;

Delague, V ;

De Sandre-Giovannoli, A ;

Pouget, J ;

Dépetris, D ;

Mattei, MG ;

Philip, N ;

Lévy, N .

JOURNAL OF MEDICAL GENETICS, 2005, 42 (03) :253-259

[3] Neurological features of congenital fibrosis of the extraocular muscles type 2 with mutations in PHOX2A [J].

Bosley, Thomas M. ;

Oystreck, Darren T. ;

Robertson, Richard L. ;

al Awad, Abdulaziz ;

Abu-Amero, Khaled ;

Engle, Elizabeth C. .

BRAIN, 2006, 129 :2363-2374

[4] Three novel mutations in KIF2IA highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOMI [J].

Chan, Wai-Man ;

Andrews, Caroline ;

Dragan, Laryssa ;

Fredrick, Douglas ;

Armstrong, Linlea ;

Lyons, Christopher ;

Geraghty, Michael T. ;

Hunter, David G. ;

Yazdani, Ahmad ;

Traboulsi, Elias I. ;

Pott, Jan W. R. ;

Gutowski, Nicholas J. ;

Ellard, Sian ;

Young, Elizabeth ;

Hanisch, Frank ;

Koc, Feray ;

Schnall, Bruce ;

Engle, Elizabeth C. .

BMC GENETICS, 2007, 8 (1)

[5]

Chen Xia, 2011, Zhonghua Yan Ke Za Zhi, V47, P978

[6] Dissociated vertical deviation in congenital fibrosis of the extraocular muscles [J].

Choi, Se Rang ;

Baek, Seung-Hee ;

Kim, Ungsoo Samuel .

GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY, 2013, 251 (03) :1007-1008

[7] Magnetic resonance imaging evidence for widespread orbital dysinnervation in congenital fibrosis of extraocular muscles due to mutations in KIF21A [J].

Demer, JL ;

Clark, RA ;

Engle, EC .

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2005, 46 (02) :530-539

[8] Oculomotor nerve and muscle abnormalities in congenital fibrosis of the extraocular muscles [J].

Engle, EC ;

Goumnerov, BC ;

McKeown, CA ;

Schatz, M ;

Johns, DR ;

Porter, JD ;

Beggs, AH .

ANNALS OF NEUROLOGY, 1997, 41 (03) :314-325

[9]

Engle EC, 2004, GENEREVIEWS, P1993

[10] Congenital Fibrosis of the Extraocular Muscles Type 1, Distinctive Conjunctival Changes and Intrapapillary Disc Colobomata [J].

Flaherty, Maree P. ;

Balachandran, Chandra ;

Jamieson, Robyn ;

Engle, Elizabeth C. .

OPHTHALMIC GENETICS, 2009, 30 (02) :91-95

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