Y-splitting medial rectus muscle and recession in treatment for convergence excess esotropia.

Aim: To evaluate the surgical outcome of medial rectus (MR) recession with Y-splitting procedure in treatment of esotropia with convergence excess.

Methods: Medical records were retrospectively reviewed for those patients who underwent surgical treatment for their convergence excess esotropia (CEET) between January 2018 and December 2020. Refractive error was examined by the equipment of the VS100 (Welch Allyn).

Recurrent and Spontaneous Release of Epiretinal Membrane in a Toddler.

We report a case of an epiretinal membrane (ERM) in a 3-year-old girl, which was accidently discovered after a strabismus surgery. The ERM occurred twice in 2 years and spontaneously released within 3 months, which has not been previously reported.

Duplication of 19q (13.2-13.31) associated with comitant esotropia: A case report.

Background: Comitant esotropia is the most common form of strabismus. It is caused by heterogeneous environmental and genetic risk factors. The pure duplication of the long arm of chromosome 19 is a rare abnormality.

Effect of unilateral inferior oblique weakening on fundus torsion in bilateral eyes of children with congenital superior oblique palsy.

Aim: To study the change of torsion in both eyes after unilateral inferior oblique (IO) weakening on children with congenital superior oblique palsy (SOP).

Methods: This retrospective study enrolled all patients diagnosed with unilateral congenital superior oblique palsy (UCSOP) accompanied by inferior oblique overaction (IOOA). A total of 120 eyes of 60 patients were divided into group 1 (more extorted paretic eye) and group 2 (more extorted nonparetic eye).

[R954 mutations in KIF21A gene in Chinese patients with congenital fibrosis of extraocular muscles].

Objective: Screening KIF21A gene mutation in 9 families with congenital fibrosis of extraocular muscles and 7 sporadic cases.

Methods: Families were ascertained and patients underwent complete ophthalmological examinations. The probands of 9 families with CFEOM and 7 sporadic patients were recruited for this study after informed consent.

[Recession of both horizontal rectus muscles in Duane Retraction Syndrome with significant globe retraction].

Objective: To evaluate the effect of Recession of both horizontal rectus muscles in Duane Retraction Syndrome with significant globe retraction.

Methods: Sixteen cases with DRS were summarized retrospectively. All patients had undergone surgery with recession of both horizontal rectus muscles.

[Recurrent N1173K mutation in FBN1 gene in a Chinese family with ectopia lentis].

Objective: To study the disease-causing gene mutation in a Chinese family with ectopia lentis.

Methods: The phenotype of each family member in a Chinese family with ectopia lentis was identified by detailed clinical examination. The inheritance mode in this family was ascertained by the pedigree analysis.

[Screening of FBN1 gene mutations in a family with Marfan syndrome].

Objective: To identify FBN1 gene mutations in a Chinese family with Marfan syndrome.

Methods: Four affected and two unaffected individuals in the family were recruited after informed consent. Five ml blood samples were drawn from each family member and genomic DNA was extracted.

[R240X mutation of the PAX6 gene in a Chinese family with congenital aniridia].

Objective: To study the PAX6 gene mutation in a Chinese pedigree with congenital aniridia.

Methods: Linkage analysis was performed to the Chinese family with congenital aniridia using two microsatellite markers D11S904 and D11S935. Analysis of the PAX6 gene mutation was done by direct sequencing of the whole coding region and exon-intron boundaries of the PAX6 gene in all affected and unaffected individuals in the family.

[TGFBI gene mutations in three Chinese families with autosomal dominant corneal dystrophy].

Objective: To screen the transforming growth factor, beta-induced (TGFBI) gene mutation in three Chinese families with autosomal dominant corneal dystrophy.

Methods: Analysis of the TGFBI gene mutations was performed by direct sequencing of the whole coding regions and exon-intron boundaries of the TGFBI gene in all affected members from the three families.

Results: Three kinds of TGFBI gene mutations, R124C and H626R were detected in the patients of the two lattice conneal dystrophy families, and R124H was detected in the Avellino corneal dystrophy family.

[Gene mapping in a Chinese family with autosomal dominant centralpuiverulent cataract].

Objective: Mapping the mutation gene for a Chinese family with autosomal dominant cataract.

Methods: It was a retrospective study. Thirty-two individuals in this family, including fifteen patients, eight normal siblings and nine spouses, were investigated and 8 ml blood was collected from each member under informed consent.

[Study of gene mutation in a Chinese family with X-linked congenital nystagmus].

Objective: To study the disease-causing gene for a Chinese family with X-linked congenital idiopathic nystagmus.

Methods: It was a retrospective study. The phenotype of a Chinese family with congenital nystagmus was identified by investigating the history and the clinical features of each family member.

[The G990T mutation of the FRMD7 gene in a Chinese family with congenital idiopathic nystagmus].

Objective: To study the mutation of FRMD7 gene in a Chinese family with congenital idiopathic nystagmus.

Methods: Forty-six individuals in the Chinese family with congenital idiopathic nystagmus, including 16 patients, 19 normal siblings and 11 spouses, were investigated under informed consent. Genomic DNA of all 46 members was isolated by standard protocol.

[A family of congenital fibrosis of extraocular muscles associated with juvenile canities].

Objective: To analyze the clinical manifestations of affected individuals in a family of congenital fibrosis of the extraocular muscles (CFEOM) with juvenile canities.

Methods: All affected and unaffected individuals were retrospectively analyzed in this study. The clinical features include genetic aspects, sex, age, ptosis, restriction of eye movement, aberrant innervation and surgical procedures, were evaluated.

[Spatial correlation of active mounds locative distribution of Solenopsis invicta Buren polygyne populations].

By using geostatistic method, this paper studied the spatial distribution patterns of the active mounds of Solenopsis invicta Buren polygyne populations in Wuchuan and Shenzhen, and built up the spherical models of the interval distances and semivariances of the mounds. The semivariograms were described at the two directions of east-west and south-north, which were obviously positively correlated to the interval distances, revealing that the active mounds in locative area were space-dependent. The ranges of the 5 spherical models constructed for 5 sampling plots in Wuchuan were 9.

[Cloning and eukaryotic expression of wild type and truncated mouse ciliary neurotrophic factor gene].

Objective: To clone and eukaryotic express wild type and truncated mouse ciliary neurotrophic factor (CNTF) gene, and to observe the biological effect of two types of CNTF gene expressing in ARPE-19 cells.

Methods: RT-PCR was used to amplify the cDNA of CNTF gene, and truncated CNTF cDNA was obtained by site-directed mutagenesis. The two types of CNTF gene were cloned into plasmid pTracer-CMV and transfected to ARPE-19 cells.

[Fluorescein angiography of retinal neovascularization model in mice].

Objective: To investigate a high molecular weight fluorescein angiography in the application of retinal neovascularization model in mouse.

Methods: retinal neovascularization model was induced by exposure mouse to an environment containing high concentration of oxygen. High molecular weight fluorescein isothiocyanate dextran were perfused through the left ventricle directly, then the mouse eyes were enucleated and fixed with 4% paraformaldehyde.

[The clinical manifestation and linkage analysis in one Chinese family with congenital fibrosis of extraocular muscles].

Objective: To describe the clinical phenotype in a Chinese family with congenital fibrosis of extraocular muscles and to identify the location of candidate gene of the disease in chromosome.

Methods: The clinical feature of all affected members in this family were examined. A genome-wide linkage screening was conducted.

[Novel splice-site mutation in the pre-mRNA splicing gene PRPF31 in a Chinese family with autosomal dominant retinitis pigmentosa].

Objective: To identify mutations in a four-generation Chinese family with retinitis pigmentosa and to investigate its clinical phenotype.

Methods: Ophthalmic and electrophysiological examinations of patients with RP were performed. A genome-wide scan and linkage analysis were conducted in this family.

Telomerase expression in sebaceous carcinoma of the eyelid.

Background: In humans telomerase is expressed in most cancers and immortal cell lines, and activation of telomerase may play important roles in tumorigenesis and immortalization. This study was to investigate the roles of telomerase activity (TA) and human telomerase RNA (hTR) in sebaceous carcinoma of the eyelid.

Methods: The telomerase repeated amplification protocol (TRAP) was used to demonstrate telomerase activity in 12 cases of sebaceous carcinoma of the eyelid.