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.

Cone Density Distribution and Related Factors in Patients Receiving Hydroxychloroquine Treatment.

Purpose: Hydroxychloroquine is an effective treatment for rheumatic diseases; however, retinal damage is a possible side effect. We aimed to identify the retinal area and related risk factors associated with cone density reduction caused by hydroxychloroquine.

Methods: We recorded the retinal images of patients with rheumatic diseases taking hydroxychloroquine (n = 44) and compared them with images of healthy controls (n = 107).

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).

WFS1-Associated Optic Neuropathy: Genotype-Phenotype Correlations and Disease Progression.

Objective: To evaluate the pattern of vision loss and genotype-phenotype correlations in WFS1-associated optic neuropathy (WON).

Design: Multicenter cohort study.

Methods: The study involved 37 patients with WON carrying pathogenic or candidate pathogenic WFS1 variants.

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.

The Evaluation of the Maculopathy Using Dynamic Contrast-enhanced MRI in Patients with Proliferative Diabetic Retinopathy.

Background: Dynamic Contrast-enhanced Magnetic Resonance Imaging (DCE-MRI) technique could not only quantify blood-retinal barrier (BRB) breakdown leading to macular edema associated with diabetes, but also provide a two-dimensional imaging method that is not interfered by refracting media.

Objective: The current study was aimed to evaluate the macular change in the patients with diabetic retinopathy using DCE-MRI technique.

Methods: Twenty patients with Diabetic Retinopathy (DR) and 20 Normal Controls (NC) were included.

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.

A novel mutation in the VHL gene in a Chinese family with von Hippel-Lindau disease.

Background: Von Hippel-Lindau (VHL) disease is an autosomal dominant inherited cancer syndrome, and VHL is identified as a tumor suppressor gene. The main objective of this study was to identify disease-causing mutations in a Chinese family affected with VHL disease.

Methods: Genomic DNA was extracted from peripheral blood from a Chinese family with VHL.

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.

Novel compound heterozygous mutation in the POC1B gene underlie peripheral cone dystrophy in a Chinese family.

Purpose: To describe the clinical characteristics of a Chinese family with peripheral cone dystrophy (PCD) and identify the gene mutations causing PCD.

Methods: The Chinese PCD pedigree underwent comprehensive ophthalmic examinations, including visual acuity, slit lamp examination, fundoscopy, visual field examination, autofluorescence, fluorescence fundus angiography and indocyanine green angiography, full-field electroretinograms, and spectral-domain optical coherence tomography. The targeted next-generation sequencing of COD or cone-rod dystrophy (CORD) genes was used to identify the causative mutation.

Evaluation of tear malate dehydrogenase 2 in mild dry eye disease.

Purpose: To evaluate the effect of tear malate dehydrogenase 2 on monitoring ocular surface injury in mild dry eye (DE) disease.

Methods: A total of 15 DE patients (30 eyes) with mild subjective symptoms but no ocular surface fluorescein staining signs were enrolled in this study (DE group). The control group was 15 healthy age- and sex-matched volunteers (30 eyes).

Clinical features and differential diagnosis of acute idiopathic blind spot enlargement syndrome.

Purpose: To study the clinical manifestations and the diagnostic and differential diagnostic characteristics of acute idiopathic blind spot enlargement syndrome (AIBSES).

Methods: Six patients diagnosed with AIBSES underwent complete eye examinations including fundus photography, fundus fluorescein angiography(FFA), indocyanine green angiography (ICGA), optical coherence tomography (OCT), electroretinogram (ERG), and visual field examinations.

Results: All patients had enlarged blind spots of variable sizes and densities.

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.

Characterization of macular thickness changes in Leber's hereditary optic neuropathy by optical coherence tomography.

Background: To characterize macular thickness (MT) changes in Leber's hereditary optic neuropathy (LHON) patients by cirrus HD-optical coherence tomography (OCT), and to study the correlation between MT and best corrected visual acuity (BCVA).

Methods: Fifty-two eyes from 52 consecutive LHON patients and 14 eyes from 14 age- and sex-matched healthy controls were scanned by OCT. Affected eyes were classified into five groups according to disease duration (1st group: ≤3 months; 2nd group: 3-6 months; 3rd group: 6-9 months; 4th group: 9-12 months; and 5th group: >12 months).

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).

Presumed acquired retinal astrocytoma in association with anterior uveitis.

Purpose: To report a case of presumed acquired retinal astrocytoma in association with anterior uveitis.

Methods: A 29-year-old man presented with mutton fat keratic precipitates in the inferiorlower cornea, with complicated cataract and a circumscribed, solitary, yellowish-white retinal lesion in the right eye. Phacoemulsification with intraocular lens implantation was performed, with election to observeand the lesion was observed periodically.

Characterization of retinal nerve fiber layer thickness changes associated with Leber's hereditary optic neuropathy by optical coherence tomography.

In the present study, the changes in the retinal nerve fiber layer (RNFL) thickness associated with Leber's hereditary optic neuropathy (LHON) were examined by Cirrus high definition-optical coherence tomography (OCT), and the correlation between the RNFL thickness and the best corrected visual acuity (BCVA) was evaluated. A cross-sectional study was performed. Sixty-eight eyes from patients with LHON and 30 eyes from healthy individuals were scanned.

[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.

[Meta analysis of acupuncture in the treatment of optic atrophy].

Objective: To evaluate the efficacy and safety of acupuncture for optic atrophy.

Methods: All the randomized controlled trials (RCTs) on optic atrophy treatment with acupuncture were included after retrieving the PubMed, Embase, Cochrane Library, CBM, CNKI, VIP, Wanfang database from their establishment to November 2012. The bibliographies of the included studies were retrieved as well.

[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.