Next-generation sequencing-based clinical diagnosis of choroideremia and comprehensive mutational and clinical analyses.

Background: To report the clinical and genetic findings from seven Chinese patients with choroideremia.

Methods: Five hundred seventy-eight patients with a clinically suspected diagnosis of retinitis pigmentosa (RP) underwent comprehensive ophthalmic examinations. Next-generation sequencing (NGS) was performed on samples from all patients.

The Precise Diagnosis of Wolfram Syndrome Type 1 Based on Next-Generation Sequencing.

To explore a method for the early, rapid and accurate diagnosis of Wolfram syndrome 1 (WS1) and further enrich the spectrum of mutations in the Chinese population. We analyzed 279 patients with unexplained optic atrophy using next-generation sequencing. All patients underwent detailed clinical evaluations.

Next-Generation Sequencing-Aided Rapid Molecular Diagnosis of Occult Macular Dystrophy in a Chinese Family.

To show early, rapid and accurate molecular diagnosis of occult macular dystrophy (OMD) in a four-generation Chinese family with inherited macular dystrophy. In the current study, we comprehensively screened 130 genes involved in common inherited non-syndromic eye diseases with next-generation sequencing-based target capture sequencing of the proband of a four-generation Chinese family that has suffered from maculopathy without a definitive diagnosis for over 10 years. Variants were filtered and analyzed to identify possible disease-causing variants before validation by Sanger sequencing.

[Etiologic analysis of 487 cases of ophthalmoplegia].

Objective: To study the etiology of ophthalmoplegia cases.

Methods: A retrospective case series study. We summarized and analyzed etiological diagnosis of 487 ophthalmoplegia patients from January 2005 to September 2010 in Beijing Tongren Hospital of Capital Medical University and Beijing Tongren Eye Center.

[Clinical characteristics of acute ischemic retinopathy and nonarteritic anterior ischemic optic neuropathy].

Objective: To compare the vascular risk factors between acute ischemic retinopathy (AIR) and nonarteritic anterior ischemic optic neuropathy (NAION).

Methods: Single center retrospective study. Patients diagnosed of AIR and NAION from Jan 2008 to Jan 2009 in Beijing Tongren hospital were enrolled in this study.

[Clinical characteristics of non-arteritic anterior ischemic optic neuropathy].

Objective: To evaluate the demographic, risk factors and clinical characteristics of non-arteritic anterior ischemic optic neuropathy (NAION) and provide clinical guidance for this blindness disease.

Methods: Retrospective study was used to investigate the data, which consists of 96 NAION consecutive patients in neurology department of our hospital from 2005 to 2008.

Results: The average age of NAION patients is 50.

[Clinical features and therapy of subjective benign paroxysmal positional vertigo].

Objective: To evaluate the clinical features and therapy of subjective benign paroxysmal positional vertigo (S-BPPV).

Methods: By retrospectively analyzing the results of clinical features and therapy in 12 patients with S-BPPV from January 2003 to September 2006, the results were compared with 24 patients with objective benign paroxysmal positional vertigo (O-BPPV) of posterior semicircular canal.

Results: S-BPPV patients suffered from attack of transient vertigo with sudden onset triggered by head motion but no concomitant nystagmus in Dix-Hallpike test.