The crystalline lens is a transparent, biconvex structure that has its curvature and refractive power modulated to focus light onto the retina. This intrinsic morphological adjustment of the lens to fulfill changing visual demands is achieved by the coordinated interaction between the lens and its suspension system, which includes the lens capsule. Thus, characterizing the influence of the lens capsule on the whole lens’s biomechanical properties is important for understanding the physiological process of accommodation and early diagnosis and treatment of lenticular diseases. In this study, we assessed the viscoelastic properties of the lens using phase-sensitive optical coherence elastography (PhS-OCE) coupled with acoustic radiation force (ARF) excitation. The elastic wave propagation induced by ARF excitation, which was focused on the surface of the lens, was tracked with phase-sensitive optical coherence tomography. Experiments were conducted on eight freshly excised porcine lenses before and after the capsular bag was dissected away. Results showed that the group velocity of the surface elastic wave, V , in the lens with the capsule intact ( V = 2.55 ± 0.23   m / s ) was significantly higher (p < 0.001) than after the capsule was removed ( V = 1.19 ± 0.25   m / s ). Similarly, the viscoelastic assessment using a model that utilizes the dispersion of a surface wave showed that both Young’s modulus, E, and shear viscosity coefficient, η, of the encapsulated lens ( E = 8.14 ± 1.10   k P a , η = 0.89 ± 0.093   P a ∙ s ) were significantly higher than that of the decapsulated lens ( E = 3.10 ± 0.43   k P a , η = 0.28 ± 0.021   P a ∙ s ). These findings, together with the geometrical change upon removal of the capsule, indicate that the capsule plays a critical role in determining the viscoelastic properties of the crystalline lens.

/pdf/the-lens-capsule-significantly-affects-the-viscoelastic-22t56s3q.pdf

The lens capsule significantly affects the viscoelastic properties of the lens as quantified by optical coherence elastography

Corneal blindness is the fifth leading cause of blindness worldwide, and therapeutic options are still often limited to corneal transplantation. The corneal epithelium has a strong barrier function, and regeneration is highly dependent on limbal stem cell proliferation and basement membrane remodeling. As a result of the lack of corneal donor tissues, regenerative medicine for corneal diseases affecting the epithelium is an area with quite advanced basic and clinical research. Surgery still plays a prominent role in the treatment of epithelial diseases; indeed, innovative surgical techniques have been developed to transplant corneal and non-corneal stem cells onto diseased corneas for epithelial regeneration applications. The main goal of applying regenerative medicine to clinical practice is to restore function by providing viable cells based on the use of a novel therapeutic approach to generate biological substitutes and improve tissue functions. Interest in corneal epithelium rehabilitation medicine is rapidly growing, given the exposure of the corneal outer layers to external insults. Here, we performed a review of basic, clinical and surgical research reports on regenerative medicine for corneal epithelial disorders, classifying therapeutic approaches according to their macro- or microscopic target, i.e., into cellular or subcellular therapies, respectively.

/pdf/corneal-epithelial-regeneration-old-and-new-perspectives-34qy25ye.pdf

Corneal Epithelial Regeneration: Old and New Perspectives

To identify the genetic mutation of a four-generation autosomal dominant congenital cataract family in China.Targeted region sequencing containing 778 genes associated with ocular diseases was performed to screen for the potential mutation, and Sanger sequencing was used to confirm the mutation. The homology model was constructed to identify the protein structural change, several online software were used to predict the mutation impact. CLUSTALW was used to perform multiple sequence alignment from different species.A novel heterozygous mutation, GJA8 NM_005267.5: c.124G > A, p.(E42K) was found, which cosegregated with congenital cataract phenotype in this family. Bioinformatics analysis of the mutation showed that the surface potential diagram of proteins changed. Several online programs predicted the mutation was 'Pathogenic', 'Damaging', 'Disease causing' or 'Deleterious'.A novel mutation NM_005267.5(GJA8):c.124G > A was identified in our study. Our finding can broaden the mutation spectrum of GJA8, enrich the phenotype-genotype correlation of congenital cataract and help to better understand the genetic background of congenital cataract. 

https://bmcophthalmol.biomedcentral.com/track/pdf/10.1186/s12886-022-02386-y

A novel mutation GJA8 NM_005267.5: c.124G > A, p.(E42K) causing congenital nuclear cataract

BACKGROUND To explore the molecular genetic cause of a four-generation autosomal dominant retinitis pigmentosa family in China. METHODS Targeted region sequencing was performed to detect the potential mutation, and Sanger sequencing was used to validate the mutation. Multiple sequence alignment from different species was performed by CLUSTALW. The structures of wild-type and the mutant RHO were modeled by Swiss-Model Server and shown using a PyMOL Molecular Graphic system. RESULTS A novel heterozygous nonsense mutation (c.1015 A > T, p.Lys339Ter, p.K339X) within RHO, which cosegregated with retinitis pigmentosa phenotype was detected in this family. Bioinformatics analysis showed the mutation was located in a highly conserved region, and the mutation was predicted to be pathogenic. CONCLUSIONS We identified a novel heterozygous nonsense mutation of RHO gene in a Chinese family with retinitis pigmentosa by target region sequencing and our bioinformatics analysis indicated that the mutation is pathogenic. Our results can broaden the spectrum of RHO gene mutation and enrich the phenotype-genotype correlation of retinitis pigmentosa.

/pdf/identification-of-a-novel-rho-heterozygous-nonsense-mutation-4j0ybaeyv5.pdf

Identification of a novel RHO heterozygous nonsense mutation in a Chinese family with autosomal dominant retinitis pigmentosa.

Purpose To explore the clinical phenotype and genetic defects of families with congenital aniridia. Methods Four Chinese families with aniridia were enrolled in this study. The detailed ocular presentations of the patients were recorded. Whole exome sequencing (BGI MGIEasy V4 chip) was used to detect the gene mutation. Sanger sequencing was performed to validate the potential pathogenic variants, and segregation analysis was performed on all available family members. Results By whole exome sequencing and Sanger sequencing, three recurrent mutations (c.112del, p.Arg38Glyfs*16; c.299G > A, p.Trp100* and c.718C > T, p.Arg240*) and one novel mutation (c.278_281del, p.Glu93Alafs*30) of PAX6 were identified. All the mutations were co-segregated with the phenotype in the families. We also observed spontaneous anterior lens capsule rupture in aniridia for the first time. Conclusion We report spontaneous anterior lens capsule rupture as a novel phenotype of aniridia and three recurrent mutations and one novel mutation of PAX6 in families with aniridia. Our results expanded the phenotype and genotype spectra of aniridia and can help us better understand the disease.

Novel clinical presentation and PAX6 mutation in families with congenital aniridia

Anterior lens capsule, as the thickest basement membrane in the body, has its unique physiology characteristics. In ophthalmology, many attempts have been made to culture different kinds of cells including iris pigment epithelial cells, retinal pigment epithelial cells, corneal epithelium and endothelium cells, trabecular meshwork cells etc and anterior lens capsule has been confirmed to be served as an excellent scaffold for the growth and expansion of different ocular cells. Furthermore, anterior lens capsule also has unique potential in gestation evaluation and the treatment of various ocular diseases, including corneal ulcer, glaucoma, age-related macular degeneration and macular hole, etc. Here, we provide an overview of the biomechanical properties and biomedical engineering perspectives of anterior lens capsule.

Anterior lens capsule: biomechanical properties and biomedical engineering perspectives.

To explore the molecular genetic cause of a four-generation autosomal dominant congenital cataract family in China. Targeted region sequencing was performed to screen for the potential mutation, and Sanger sequencing was used to confirm the mutation. The homology model was constructed to identify the protein structural change, PolyPhen-2 and Provean were used to predict the mutation impact. Functional and cellular analysis of the wild and mutant GJA8 were performed in DF-1 cells by western blotting, dye uptake assay, immunofluorescence, Annexin V-FITC staining. A novel heterozygous mutation (c.205G > A; p.Ala69Thr) was identified within GJA8, which cosegregated with congenital cataract phenotype in this family. Bioinformatics analysis showed the mutation was located in a highly conserved region, and the mutation was predicted to be pathogenic. Function analysis indicated that the mutation inhibited GJA8 hemichannel activity, reduced cell tolerance to oxidative stress, changed the protein distribution pattern and inhibited the cell growth. We have identified a novel missense mutation in GJA8 (c.205G > A, p.Ala69Thr) in a four-generation Chinese family and our results will further broaden the gene mutation spectrum of GJA8.

/pdf/identification-and-functional-analysis-of-a-novel-missense-3w994d7por.pdf

Identification and functional analysis of a novel missense mutation in GJA8, p.Ala69Thr.

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Anterior lens capsule: biomechanical properties and biomedical engineering perspectives.

Identification and functional analysis of a novel missense mutation in GJA8, p.Ala69Thr.