OBJECTIVETo analyze clinical features and mutations of EFEMP1 gene in a Chinese pedigree with familial dominant drusen.

METHODSClinical features of the pedigree were studied with fundus photography, fundus fluorescein angiography and optical coherence tomography. Molecular genetic analysis was performed on the patients and unaffected individuals from the family. All coding exons of the EFEMP1 gene were amplified by polymerase chain reaction (PCR) and sequenced. The results were compared with wild-type sequences from NCBI. The proband who had suffered from choroidal neovascularization and preretinal hemorrhage received an intravitreal injection of an anti-vascular endothelial growth factor (VEGF) preparation.

RESULTSA heterozygous mutation C>T (R345W) was identified in exon 10 of the EFEMP1 gene in two affected individuals from the family. The same mutation was not detected in unaffected family members and 100 healthy individuals. Postoperative follow-up of the patient receiving intravitreal injection of anti-VEGF drug showed that visual acuity was improved and fundus appeared to be stable.

CONCLUSIONThe R345W mutation in EFEMP1 is responsible for the dominant drusen in this family. Intravitreal injection of anti-VEGF drug is a promising treatment for the improvement in vision.

Adult ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; Exons ; Extracellular Matrix Proteins ; genetics ; Female ; Genes, Dominant ; Humans ; Male ; Molecular Sequence Data ; Mutation, Missense ; Pedigree ; Retinal Drusen ; genetics ; metabolism ; Vascular Endothelial Growth Factor A ; metabolism ; Young Adult

Through the theoretical analysis of teaching reform and quality management in tradi-tional Chinese medicine col-leges, this paper puts forward the necessity of improving the quality management and optimizing the reform of education and teaching. Meanwhile, this paper further expounds the comprehen-sive, guiding, operable, qualitative and quantitative principles of teaching reform and quality management in traditional Chinese medicine colleges. Based on the above analysis, the paper puts forward and prac-tices the reform countermeasures to improve the interactive mechanism between the quality of graduates and the reform of teaching in traditional Chinese medicine colleges. The countermeasures include establishing an effective quality tracking feedback mechanism for graduates, actively carrying out the monitoring and evalu-ation of teaching quality, and constructing the measurement and evaluation system of teaching quality of traditional Chinese medicine education. This paper combines the needs of the current society for the culti-vation of talents of traditional Chinese medicine and the training quality standards, so as to promote the development of traditional Chinese medicine.