Epidemiologic characteristics and outcomes of open globe injury in Shanghai.

AIM: To investigate the epidemiologic characteristics and outcomes of open globe injury in Shanghai. METHODS: A retrospective study was conducted for 148 unilateral open globe injury cases presenting to a tertiary referral hospital of Shanghai. Electronic medical records were reviewed and phone surveys were conducted to collect and analyze 1) background of patient; 2) setting of injury and clinical signs at presentation; 3) treatment procedure and outcome; 4) quality of life after injury. RESULTS: There were more male patients (77.03%) than females (22.97%), more temporary habitants (79.05%) than residents (20.95%). The subjects in this study presented a significantly lower constitutional status of education than that of the whole Shanghai population (P<0.001). Occupational injury was the first cause of injuries (39.86%), followed by home accident (20.27%), road accident (16.89%), violent behavior (16.89%) and outdoor injury (6.08%). The 143 subjects (96.62%) were not wearing spectacles at the time of injury. Of all patients, 77 subjects (52.03%) had the outcome of no vision (including enucleation). The classification and regression tree (CART) prognosis presents 59.58% sensitivity to predict visual survival correctly and 80.19% specificity to predict no vision correctly. The patients whose injured eye had no vision reported more reduction of life quality. CONCLUSION: We found that male subject, temporary habitants, low educational status and no eyewear are risk factors of open globe injury in Shanghai. Occupational injury is the leading cause. CART analysis presents a certain agreement to the actual visual outcome. The injury imposes negative impact on quality of life especially in no vision cases. The education of eye protection may help to avoid the injury.

Functional study on a novel missense mutation of the transcription factor FOXL2 causes blepharophimosis-ptosis-epicanthus inversus syndrome (BPES).

Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare autosomal dominant disease caused by FOXL2 gene mutations. However, only one missense mutation has been found in family with BPES type I. Here, we report a novel missense mutation in the forkhead domain of the FOXL2 gene (c.340A > G, NM_023067) resulted in the replacement of lysine by glutamic acid at amino acid position 114 of the FOXL2 protein (p.K114E, NP_075555) that was identified in a Chinese family with BPES type I, members of which displayed clinical symptoms such as shortened palpebral fissures, drooping eyelids, a vertical skin fold arising from the lower eyelid, and premature ovarian failure (POF) in affected females. Based on the patients' clinical features and computational analysis of this missense mutation in a three-dimensional structural model, we hypothesised that the mutation might disturb the intermolecular contacts between FOXL2 and the StAR gene. The disturbance of this interaction might contribute to the POF observed in BPES type I patients. We performed subcellular localisation and functional studies and as expected, observed significant nuclear aggregation and cytoplasmic mislocalization of the mutant type protein and loss-of-function was confirmed by electrophoretic mobility shift assays, transcriptional activity assays and quantitative real-time polymerase chain reaction. This functional study on a novel missense mutation has important implications for the molecular analysis of this gene.

FOXL2 mutations in Chinese families with Blepharophimosis syndrome (BPES).

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.