A Novel<i>PAX6</i>Mutation in Chinese Patients with Severe Congenital Aniridia

He, Yan; Pan, Zhiqiang; Luo, Fei

doi:10.3109/02713683.2012.688165

Cited by 5 publications

(3 citation statements)

References 16 publications

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“…These cells express keratinocyte stem cell markers (p63, EGFR, K19, ABCG2 and integrin β1) and exhibit low expression of corneal differentiation markers (K3, involucrin, and connexin-43) [2], and they are responsible for sustaining the clarity and integrity of the corneal epithelium required for normal vision. Complete depletion or dysfunction of the corneal epithelial stem cells that occurs in some severe ocular surface abnormalities as a result of caustic injuries such as burns, inflammatory conditions, or hereditary genetic disorders such as aniridia [3], [4] will lead to conjunctivalisation, keratinisation, and opacification and result in impaired vision or blindness. Under these circumstances, visual acuity can only be restored by transplanting corneal epithelial stem cells onto the injured cornea.…”

Section: Introductionmentioning

confidence: 99%

Tualang Honey Improves Human Corneal Epithelial Progenitor Cell Migration and Cellular Resistance to Oxidative Stress In Vitro

et al. 2014

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Stem cells with enhanced resistance to oxidative stress after in vitro expansion have been shown to have improved engraftment and regenerative capacities. Such cells can be generated by preconditioning them with exposure to an antioxidant. In this study we evaluated the effects of Tualang honey (TH), an antioxidant-containing honey, on human corneal epithelial progenitor (HCEP) cells in culture. Cytotoxicity, gene expression, migration, and cellular resistance to oxidative stress were evaluated. Immunofluorescence staining revealed that HCEP cells were holoclonal and expressed epithelial stem cell marker p63 without corneal cytokeratin 3. Cell viability remained unchanged after cells were cultured with 0.004, 0.04, and 0.4% TH in the medium, but it was significantly reduced when the concentration was increased to 3.33%. Cell migration, tested using scratch migration assay, was significantly enhanced when cells were cultured with TH at 0.04% and 0.4%. We also found that TH has hydrogen peroxide (H2O2) scavenging ability, although a trace level of H2O2 was detected in the honey in its native form. Preconditioning HCEP cells with 0.4% TH for 48 h showed better survival following H2O2-induced oxidative stress at 50 µM than untreated group, with a significantly lower number of dead cells (15.3±0.4%) were observed compared to the untreated population (20.5±0.9%, p<0.01). Both TH and ascorbic acid improved HCEP viability following induction of 100 µM H2O2, but the benefit was greater with TH treatment than with ascorbic acid. However, no significant advantage was demonstrated using 5-hydroxymethyl-2-furancarboxaldehyde, a compound that was found abundant in TH using GC/MS analysis. This suggests that the cellular anti-oxidative capacity in HCEP cells was augmented by native TH and was attributed to its antioxidant properties. In conclusion, TH possesses antioxidant properties and can improve cell migration and cellular resistance to oxidative stress in HCEP cells in vitro.

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Section: Introductionmentioning

confidence: 99%

Tualang Honey Improves Human Corneal Epithelial Progenitor Cell Migration and Cellular Resistance to Oxidative Stress In Vitro

et al. 2014

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“… 53 Anterior polar cataracts are commonly seen with PAX6 mutations with or without aniridia, whereas PITX3 mutations predominantly cause posterior polar cataracts. 56 , 57 …”

Section: Investigationsmentioning

confidence: 99%

Pediatric cataract: challenges and future directions

Medsinge

Nischal²

2015

OPTH

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Cataract is a significant cause of visual disability in the pediatric population worldwide and can significantly impact the neurobiological development of a child. Early diagnosis and prompt surgical intervention is critical to prevent irreversible amblyopia. Thorough ocular evaluation, including the onset, duration, and morphology of a cataract, is essential to determine the timing for surgical intervention. Detailed assessment of the general health of the child, preferably in conjunction with a pediatrician, is helpful to rule out any associated systemic condition. Although pediatric cataracts have a diverse etiology, with the majority being idiopathic, genetic counseling and molecular testing should be undertaken with the help of a genetic counselor and/or geneticist in cases of hereditary cataracts. Advancement in surgical techniques and methods of optical rehabilitation has substantially improved the functional and anatomic outcomes of pediatric cataract surgeries in recent years. However, the phenomenon of refractive growth and the process of emmetropization have continued to puzzle pediatric ophthalmologists and highlight the need for future prospective studies. Posterior capsule opacification and secondary glaucoma are still the major postoperative complications necessitating long-term surveillance in children undergoing cataract surgery early in life. Successful management of pediatric cataracts depends on individualized care and experienced teamwork. We reviewed the etiology, preoperative evaluation including biometry, choice of intraocular lens, surgical techniques, and recent developments in the field of childhood cataract.

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“… 2010 ; He et al. 2012 ), the timing and detailed phenotype of cataract in aniridia have not been well described. Here, we report the onset of cataract, timing of cataract surgery and phenotypic features of cataract in a Norwegian aniridia cohort.…”

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confidence: 99%