Analysis of Phenotypes Associated with Deficiency of PAX6 Haplotypes in Chinese Aniridia Families.

Objective: To examine the clinical phenotype and genetic deficiencies present in Chinese aniridia families with PAX6 haplotype deficiency.

Methods: A comprehensive questionnaire and ophthalmological assessments were administered to both affected patients and unaffected relatives. The clinical feature analysis included the evaluation of visual acuity, intraocular pressure, slit-lamp anterior segment examination, fundus photography, and spectral domain optical coherence tomography.

Traumatic dislocation of the iris into the vitreous cavity with intact lens: a case report.

Background: Traumatic aniridia occurs when the iris is extruded from the eye and is often accompanied by lens injuries. However, traumatic aniridia due to dislocation of the iris into the vitreous cavity without lens damage has never been reported.

Case Presentation: A 30-year-old man presented with visual loss and pain for 6 h after a thin wire injured his right eyeball.

Various phenotypes of autosomal dominant cone-rod dystrophy with cone-rod homeobox mutation in two Chinese families.

Aim: To present the clinical manifestations of 5 autosomal dominant cone-rod dystrophy (adCORD) patients from two Chinese families with cone-rod homeobox (CRX) mutation (p.R41W), and to explore the clinical heterogeneity of adCORD with CRX mutation (p.R41W).

Novel mutations in the gene cause distinct retinopathies in two Chinese families.

Aim: To describe the clinical heterogeneity of patients with novel mutations in .

Methods: All the members in the two Chinese families underwent detailed clinical evaluations including best-corrected visual acuity, slit-lamp examination, applanation tonometry, and dilated fundus examination. Fundus autofluorescence, fundus fluorescein angiography, spectral-domain optical coherence tomography, electrooculography, and electroretinogram were also performed.

A novel mutation of FOXC1 in a Chinese family with Axenfeld-Rieger syndrome.

Axenfeld-Rieger syndrome (ARS) is a disorder affecting the anterior segment of the eye and causing systemic malformations, and follows an autosomal-dominant inheritance pattern. The aim of the present study was to identify the underlying cause of ARS in a Chinese family. Genomic DNA was extracted from the peripheral blood of the subjects from a family with ARS.

Recombination and identification of human alpha B-crystallin.

Aim: To recombine the human alpha B-crystallin (αB-crystallin) using gene cloning technology and prokaryotic expression vector and confirm the biological activity of recombinant human αB-crystallin.

Methods: Cloning the human αB-crystallin cDNA according to the nucleotide sequence of the human αB-crystallin, constructing the pET-28/CRYAB prokaryotic expression plasmid by restriction enzyme digestion method, and stably expressing transformed into the Escherichia coli (E. coli) DH5 alpha.

[Contrast Enhanced T2 Fluid-attenuated Inversion Recovery Imaging in Diagnosing Macular Edema Caused by Retinal Vein Occlusion:Report of One Case].

Conventional contrast-enhanced T1WI is a useful tool for evaluating the choroid but can not be used to evaluate the retina due to its small blood supply. Contrast-enhanced T2 fluid-attenuated inversion recovery imaging(CE-T2FLAIR)is sensitive to low-concentration MRI contrast;however,its role in the diagnosis of macular edema has not been described. A patient with macular edema caused by retinal vein occlusion was diagnosed by CE-T2FLAIR in the Hainan Branch of Chinese PLA General Hospital from July 20,2017 to August 4,2017,and our findings confirmed that CE-T2FLAIR could provide valuable imaging evidence for the diagnosis and evaluation of macular edema.

Early Diagnosis of Recurrent Optic Neuritis Using Contrast-Enhanced T2 Fluid-attenuated Inversion Recovery Imaging: a Case Report.

The diagnosis of the recurrent optic neuritis is commonly established clinically, and sometimes it could be challenging because the involved optic nerve does not always show significant enhancement on conventional contrast enhanced-T1 weighted imaging (CE-T1WI). In this paper, we reported a middle-aged female with early diagnosis of recurrent optic neuritis using contrast-enhanced T2 fluid-attenuated inversion recovery imaging (CE-T2FLAIR). The involved optic nerve presented evident enhancement on CE-T2FLAIR and no enhancement on CE-T1WI.

A new perspective for analyzing clinical characteristics of idiopathic retinal vasculitis, aneurysms, and neuroretinitis syndrome.

Purpose: We aimed to analyze the clinical characteristics of idiopathic retinal vasculitis, aneurysms, and neuroretinitis (IRVAN) syndrome. Furthermore, we aimed to correlate the number and location of retinal aneurysms with the size of retinal non-perfusion area and neovascularization.

Methods: Six patients with IRVAN syndrome (1 male and 5 females, age 5-38 years) were enrolled in this study.

Calibration and standardisation of graded optic nerve injuries in rats.

Objectives: To calibrate and standardise an animal model of graded optic nerve injury (ONI) in rats to facilitate future inter-laboratory data comparisons, focussing on quantification of injury intensity, injury severity, and the correlation between them.

Methods: A pair of cross-action forceps or a pair of artery clips was used to induce optic nerve (ON) crush injuries. A lever principle and a simplified method were used to measure the crushing force.

Pigmented paravenous retinochoroidal atrophy (Review).

Pigmented paravenous retinochoroidal atrophy (PPRCA) is an uncommon disease characterized by perivenous aggregations of pigment clumps associated with peripapillary and radial zones of retinochoroidal atrophy that are distributed along the retinal veins. Patients are usually asymptomatic and the disease process is non-progressive or slow and subtly progressive. It is commonly bilateral and symmetric.

Clinical characteristics of nonglaucomatous optic disc cupping.

Pathological optic disc cupping (ODC) is predominantly referred to as glaucoma; however, it is not only glaucoma that leads to pathological optic disc excavation. A number of other nonglaucomatous diseases also result in optic atrophy and excavation of the optic disc. Therefore, in the present study, the etiology of nonglaucomatous optic disc cupping (NGODC) was analyzed and differentiated from glaucomatous optic disc cupping (GODC).

[Clinical characteristics of paraneoplastic retinopathy and optic neuropathy].

Objective: To analyze the clinical characteristics of paraneoplastic retinopathy and optic neuropathy(PRON).

Methods: Case series study. Eight patients were enrolled from October 2006 to March 2012 visited in ophthalmology department, the People Liberation Army General Hospital.

[Outcome after treatment of myopia with implantable Collamer lens].

Objective: To evaluate the efficacy, predictability, stability, and safety of the surgical correction myopia using implantable Collamer lenses (ICL) in phakic eyes.

Methods: A prospective study was performed to analyze 91 eyes of 48 patients who had the implantation of ICL for the treatment of myopia from July 2008 to February 2010. Patients were examined preoperatively and followed at 1 week, 1, 3, 6, and 12 months postoperatively.

[Clinical investigation on anterior capsule preservation in surgical management for severe proliferative diabetic retinopathy].

Objective: To report the outcomes of patients treated with the anterior capsule preservation technique used in surgical management for severe proliferative diabetic retinopathy.

Methods: Anterior capsule was preserved following pars plana lensectomy or fragmentation during vitrectomy for cataract patients with proliferative diabetic retinopathy, all eyes presented tractional and tractional/rhegmatogenous retinal detachment and involvement of posterior retina. Postoperatively, the transparency of anterior capsule was classified into A, B, C and D degrees according to the photographic record.

[Regeneration of optic nerve fibers following graded injuries in rats].

Objective: To investigate the changes of retinal ganglion cell (RGC) and their axons, and nerve regeneration ability following graded optic nerve injury (ONI) in rats.

Methods: A pair of cross-action forceps with 148.0 g clipping pressure was used to clip rat optic nerves for 3, 6, 12, 30 and 60 s to induce graded ONI animal model.