Shaoping Ha

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Usher syndrome (USH) is a group of disorders manifested as retinitis pigmentosa and bilateral sensorineural hearing loss, with or without vestibular dysfunction. Here, we recruited three Chinese families affected with autosomal recessive USH for detailed clinical evaluations and for mutation screening in the genes associated with inherited retinal diseases.(More)
USH2A mutations have been implicated in the disease etiology of several inherited diseases, including Usher syndrome type 2 (USH2), nonsyndromic retinitis pigmentosa (RP), and nonsyndromic deafness. The complex genetic and phenotypic spectrums relevant to USH2A defects make it difficult to manage patients with such mutations. In the present study, we aim to(More)
OBJECTIVE To search for an excellent therapy for patients with large-angle exotropia. METHODS Strabotomy was performed on the master eyes in the 41 cases (master eye group) and slave eyes in the other 41 cases (slave eye group) with large-angle exotropia (>/= 60(Delta)). The post-operative visual acuity, ocular position, visual function and fixation, the(More)
PURPOSE The associations between genetic variants located in CFH, CFB, ARMS2 and HTRA1 and the risk of age-related macular degeneration (AMD) in a northern Chinese population were investigated. METHODS A case-control association study of 150 AMD patients and 145 ethnicity- and gender-matched controls were recruited. Genomic DNA was prepared from(More)
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