Congenital Fibrosis of the Extraocular Muscles Type 1, Distinctive Conjunctival Changes and Intrapapillary Disc Colobomata

被引：3
作者：
Flaherty, Maree P. [1 ]
Balachandran, Chandra [1 ]
Jamieson, Robyn [2 ,3 ]
Engle, Elizabeth C. [4 ,5 ,6 ]
机构：
[1] Childrens Hosp, Dept Ophthalmol, Sydney, NSW, Australia
[2] Childrens Hosp, Dept Genet, Sydney, NSW, Australia
[3] Univ Sydney, Sydney, NSW 2006, Australia
[4] Harvard Univ, Sch Med, Dept Neurol, Childrens Hosp Boston, Boston, MA 02115 USA
[5] Harvard Univ, Sch Med, Dept Genet, Childrens Hosp Boston, Boston, MA USA
[6] Harvard Univ, Sch Med, Dept Ophthalmol, Childrens Hosp Boston, Boston, MA USA
来源：
OPHTHALMIC GENETICS | 2009年 / 30卷 / 02期
关键词：
Congenital fibrosis of extraocular muscles; KIF21A gene; R954W mutation; conjunctival changes; optic disc coloboma; WIDESPREAD ORBITAL DYSINNERVATION; RESONANCE-IMAGING EVIDENCE; EXTRA-OCULAR MUSCLES; MUTATIONS; KIF21A; CFEOM3; LOCUS; MAPS;
D O I：
10.1080/13816810802697473
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
A 6-month-old boy presented with a congenital eye movement disorder consistent with congenital fibrosis of the extraocular muscles type 1 (CFEOM1). Mutational analysis confirmed the most common mutation in the CFEOM1 gene KIF21A. In addition to the typical findings in CFEOM1, distinctive conjunctival changes and small bilateral optic disc colobomata were also noted. It is suggested that optic disc colobomata represent a new association of CFEOM1.
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页码：91 / 95
页数：5
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