Publications (2)0 Total impact
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Article: [Clinical features and treatment of lateral orbital wall blow-in fracture].
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ABSTRACT: To analyze the clinical features of lateral orbital wall blow-in fracture and summarize the points of treatment. A retrospective analysis of 12 patients with lateral orbital wall blow-in fracture treated in the Department of Ophthalmology, Shanghai Ninth People's Hospital, Shanghai Jiaotong University School of Medicine from January 2007 to January 2010 was investigated. Clinical records and results of follow-up were analyzed. Twelve cases of the lateral orbital wall blow-in fracture with the frontal process of the zygoma impacted into the orbit were confirmed. Globe rupture occurred in 1 case, 4 cases had traumatic optic neuropathy. 1 case suffered exophthalmos, 8 cases had enophthalmos. Diplopia was found in 5 cases and eyeball movement disturbance in 5 cases.3 cases had upper eyelid deformity, 1 case had ptosis, 3 cases had telecanthus accompanied with lacrimal ducts obstruction. 11 cases suffered orbital floor fracture, 9 cases had zygomatic arc fracture, 6 cases had orbital medial wall fracture, and 3 cases had naso-orbito-ethmoid fracture. Surgical treatment was performed by different combination of approaches according to the extents of injury; Osteotomy was performed in patients whose blow-in fracture was malformation. Orbital reconstructive surgery was performed in 11 patients and fractures were completely restored. The lateral orbital wall blow-in fracture could cause serious impairment to the ocular components, better outcomes could be achieved by timely and proper treatment with improving recognition of this type of fracture.[Zhonghua yan ke za zhi] Chinese journal of ophthalmology 09/2011; 47(9):806-10. -
Article: FOXL2 mutations in Chinese families with Blepharophimosis syndrome (BPES).
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ABSTRACT: Blepharophimosis syndrome (BPES) is a rare, autosomal dominant disease. Two clinical types of BPES have been distinguished. In BPES type I, an eyelid malformation is associated with infertility in affected females as a result of premature ovarian failure. In BPES type II, eyelid anomalies alone are observed. Mutations of FOXL2, which is a gene encoding a forkhead transcription factor, have recently been shown to cause both types of BPES. Here, we report 1 novel duplication mutation of the FOXL2 gene identified in a large Chinese family affected by type II BPES and 1 less recurrent 17-bp duplication in a large Chinese family affected by BPES of an undetermined type. These new cases give additional support to the previously reported genotype-phenotype correlations and our findings have expanded the spectrum of known mutations of the FOXL2 gene.Translational research : the journal of laboratory and clinical medicine. 01/2011; 157(1):48-52.
