Abnormal lens thickening in a child with Weill-Marchesani syndrome 4: A 3-year follow-up case report.

Background: Weill-Marchesani syndrome 4 (WMS4) is caused by gene variant and clinical abnormalities including lenticular myopia, ectopia lentis, glaucoma, microspherophakia, brachydactyly, and short stature. Due to free of heart defects and joint stiffness compared with other WMS forms, WMS4 has an insidious onset and is often misdiagnosed as high myopia. We combined multiple imaging biometry and whole-exome sequencing to diagnose a case of WMS4 with a 3-year follow-up.

Association between Gestational Age, Birth Weight, Parental Age at Childbirth, Mode of Delivery, and Infantile Esotropia.

Significance: This study investigated the potential perinatal risk factors associated with infantile esotropia in a Chinese population, including advanced parental age at childbirth and mode of delivery. The findings may be significant in developing better intervention strategies for infantile esotropia.

Purpose: This study aimed to investigate the associations between gestational age, birth weight, parental age at childbirth, mode of delivery, family history of strabismus, and infantile esotropia in the Chinese population.

Identification of a Heterozygous Missense Variant in Baraitser-Winter Cerebrofrontofacial Syndrome.

Baraitser-Winter cerebrofrontofacial syndrome (BWCFF, OMIM: 243310) is a rare autosomal-dominant developmental disorder associated with variants in the genes or . It is characterized by brain malformations, a distinctive facial appearance, ocular coloboma, and intellectual disability. However, the phenotypes of BWCFF are heterogenous, and its molecular pathogenesis has not been fully elucidated.

Complement factor H deficiency combined with smoking promotes retinal degeneration in a novel mouse model.

Age-related macular degeneration is the leading cause of blindness in the elderly. The Y402H polymorphism in complement factor H promotes disease-like pathogenesis, and a murine model can replicate this phenotype, but only after two years. We reasoned that by combining CFH deficiency with cigarette smoke exposure, we might be able to accelerate disease progression to facilitate preclinical research in this disease.

Effect of capsular tension ring implantation on capsular stability after phacoemulsification in patients with weak zonules: a randomized controlled trial. CTR implantation in cataract patients with weak zonules.

Background: The use of capsular tension ring (CTR) implantation to treat cataract patients with weak zonules is still controversial. The aim of this study was to examine the effects of CTR implantation on capsular stability after phacoemulsification in patients with weak zonules, especially patients who have undergone pars plana vitrectomy (PPV) or those who suffer from severe myopia.

Methods: A total of 42 patients who underwent phacoemulsification and received an intraocular lens (IOL) were randomized to undergo CTR implantation or not.

[Expression of Complement Factor H in Human Embryonic Stem Cell-derived Retinal Pigment Epithelium].

Objective: To study the expression and secretion of alternative complement pathway regulator complement factor H (CFH) in spontaneously produced or induced human embryonic stem cell-derived retinal pigment epithelium (hESC-RPE).

Methods: RPE cells were acquired by spontaneous differentiation from hESC (sdRPE), a source of hESC-RPE, according to the method used in clinical trials. RPE cells were also acquired under the induction of growth factors and small molecules for 14 d (iRPE).

Effects of lutein supplementation in age-related macular degeneration.

The purpose of this meta-analysis was to evaluate the effects of lutein supplementation on macular pigment optical density (MPOD) in randomized controlled trials involving patients with age-related macular degeneration (AMD). A comprehensive search of the literature was performed in PubMed, Cochrane Library, Web of Science, China National Knowledge Infrastructure, Chinese Biomedical Literature Database, and Wan Fang database through December 2018. Nine randomized controlled trials involving 920 eyes (855 with AMD) were included.

Surgical management of intraocular lens dislocation: A meta-analysis.

Purpose: To compare the efficacy and safety of intraocular lens (IOL) repositioning and IOL exchange for the treatment of patients with IOL dislocation.

Methods: We systematically searched for relevant publications in English or Chinese in MEDLINE, Embase, the Cochrane Central Register of Controlled Trials, WHO International Clinical Trial Registration Platform, Clinical Trial.gov, China Biology Medicine Database, China National Knowledge Infrastructure Database and grey literature sources.

Diagnostic value of a combination of next-generation sequencing, chorioretinal imaging and metabolic analysis: lessons from a consanguineous Chinese family with gyrate atrophy of the choroid and retina stemming from a novel OAT variant.

Background/aim: Gyrate atrophy of the choroid and retina (GACR) is an extremely rare autosomal recessive inherited disorder characterised by progressive vision loss. To identify the disease-causing gene in a consanguineous Chinese pedigree with GACR, we aimed to accurately diagnose patients with GACR through a combination of next-generation sequencing (NGS) genetic diagnosis, clinical imaging and amino acid metabolic analysis.

Methods: A consanguineous Chinese pedigree with GACR, including two patients, was recruited and a comprehensive ophthalmological evaluation was performed.