Inverted Internal Limiting Membrane Flap Technique for Repair of Large Macular Holes: A Short-term Follow-up of Anatomical and Functional Outcomes.

Background: Inverted internal limiting membrane (ILM) flap technique has recently been reported in a limited number of studies as an effective surgical technique for the management of large macular holes (MHs) with fair MH closure rates as well as gains in visual acuity. In the current study, longitudinal changes in multi-focal electroretinogram (mfERG) responses, best-corrected visual acuity (BCVA) and spectral-domain optical coherence tomography (SD-OCT) were evaluated in eyes with large MHs managed by this technique.

Methods: A prospective noncontrolled interventional study of eight patients (eight eyes) with large MHs (minimum diameter >400 μm) was conducted.

[Progress in the studies of molecular genetics in Bietti crystalline corneoretinal dystrophy].

CYP4V2, a relatively new member of human cytochrome P450 (P450) enzymes, is termed an "orphan" P450 because its substrate specificity and physiological roles are unknown. Mutations in the CYP4V2 gene is associated with an autosomal recessive inherited ocular disease named Bietti's crystalline dystrophy (BCD). The strong gene-disease associations provide unique opportunities for elucidating the substrate specificity of this orphan P450s and unraveling the biochemical pathways that may be impacted in patients with CYP4V2 functional deficits.

[Clinical features of congenital stationary night blindness].

Objective: To explore the clinical features of Chinese patients with congenital stationary night blindness (CSNB).

Methods: An observational serial case study was conducted for 22 patients diagnosed as CSNB at Department of Ophthalmology, Peking Union Medical College Hospital from December 2003 through December 2011. Sixteen patients (72.

[The development in the studies of AAV-mediated gene therapy in retina].

Significant progress in understanding the molecular basis of retinal disorders has led to the development of gene therapies for treatment of these diseases. Adeno-associated virus (AAV) is a useful vector for the treatment of retinal diseases due to its low toxicity and immunogenicity, ability to transducer both dividing and non-dividing cells, and stable transgene expression. A variety of animal studies and clinical trials have proved the safety and effectivity of retinal AAV-mediated gene therapy.

[Analysis of optical coherence tomography in early stage of optic neuritis in multiple sclerosis patients].

Objective: To detect the changes in the retinal nerve fiber layer (RNFL) and ganglion cell complex (GCC) in the eyes of multiple sclerosis patients during the early stage of optic neuritis.

Methods: A prospective case series study. Suspected acute optic neuritis of multiple sclerosis (MS) patients who attended the department of ophthalmology in Peking Union Medical College hospital from Feb.

Idiopathic phacodonesis in senile cataract patients in Qinghai, China.

Aim: To investigate the frequency of idiopathic phacodonesis (IP) in senile cataract subjects and the short-term clinical outcomes following cataract surgery.

Methods: This institutional case-control study included 1301 consecutive low-income cataract subjects from June to November 2009. Anterior segment were carefully evaluated with dilated pupil under slit-lamp.

R555W mutation of TGFbetaI related to granular corneal dystrophy in Chinese patients.

Background: Mutations in the transforming growth factor beta I (TGFBI) gene cause several types of autosomal-dominant corneal dystrophies. We investigated the role of this gene in a Chinese family affected by granular corneal dystrophy (GCD).

Methods: Family history and phenotypic data were recorded.

[To reinforce the collection and usage of the genetic resource of glaucoma in China].

Positive family history is one of the risk factors of glaucoma. It indicates that gene defect may play an important role in the development of glaucoma. The advancement of genetic research provides more strategies to understand the genetic mechanism of glaucoma.

[Study on a rat model of filtering bleb scarring formation].

Objective: To investigate a rat animal model of filtering bleb scarring formation.

Methods: Thirty-five of Sprague-Dawley (SD) rats were used in this experiment. The filtration surgery was performed on one eye of each rat and the other eye served as control.

[Congenital stationary night blindness].

Congenital stationary night blindness (CSNB) is a group of genetically heterogeneous retinopathy with characterized clinical and visual electrophysiological abnormality. Five candidate genes associated with the disease have been identified. Clinical, electrophysiological and molecular genetics about CSNB are reviewed in this paper.

[Novel mutation of fibrillin 1 gene cause ectopia lentis in a Chinese family].

Objective: To identify the mutation gene of a Chinese family with ectopia lentis.

Methods: Clinical observation and pedigree analysis were undertaken in a family with ectopia lentis. Venous blood was drawn from 7 affected and 3 unaffected subjects.

[Eighteen years activity in prevention of blindness in the district of Shunyi, Beijing].

Objective: To investigate how the urban tertiary hospital and medical research unit cooperate with rural basic medical unit in creating the model zone in prevention of blindness.

Methods: Peking Union Medical College Hospital (PUMCH) and Shunyi District Bureau of Public Health exerted their advantages to persist and popularize the program for prevention of blindness. A collaborative program in prevention of blindness was conducted by PUMCH and Shunyi District Bureau of Public Health.