Brodsky M C
University of Arkansas for Medical Sciences, Little Rock, USA.
Ophthalmology. 1998 Apr;105(4):717-25. doi: 10.1016/S0161-6420(98)94029-5.
The congenital fibrosis syndrome is a hereditary form of external ophthalmoplegia that is considered to be a primary myopathy.
To document the coexistence of two distinct forms of ocular motor synkinesis in a subgroup of patients with congenital fibrosis syndrome.
Clinical and intraoperative examination results and extraocular muscle biopsy specimens from four patients with congenital fibrosis syndrome were studied.
Three patients displayed a variant of synergistic divergence characterized by simultaneous abduction with intorsion and depression of the synkinetically abducting eye. Three patients had variant of Marcus Gunn jaw winking characterized by elevation of a ptotic eyelid during mouth opening. Three patients had oculocutaneous hypopigmentation.
A subgroup of patients with congenital fibrosis syndrome display two distinct synkinetic ocular movements in conjunction with oculocutaneous hypopigmentation. The patterns of neuronal misdirection implicate a regional innervational disturbance involving cranial nerves III through VI as the underlying cause of diffuse hereditary ophthalmoplegia in these patients.
先天性纤维化综合征是一种遗传性外眼肌麻痹形式，被认为是一种原发性肌病。
记录先天性纤维化综合征患者亚组中两种不同形式的眼球运动联带运动的共存情况。
研究了4例先天性纤维化综合征患者的临床和术中检查结果以及眼外肌活检标本。
3例患者表现出一种协同性散开变异型，其特征为同步外展时外展眼内旋和下转。3例患者有Marcus Gunn下颌瞬目变异型，其特征为张口时上睑下垂的眼睑上抬。3例患者有眼皮肤色素减退。
先天性纤维化综合征患者亚组表现出两种不同的眼球联带运动，并伴有眼皮肤色素减退。神经纤维错向模式提示涉及Ⅲ至Ⅵ颅神经的局部神经支配紊乱是这些患者弥漫性遗传性眼肌麻痹的潜在原因。
