Microphthalmia, late onset keratitis, and iris coloboma/aniridia in a family with a novel<i>PAX6</i>mutation

Xiao, Xueshan; Li, Shiqiang; Zhang, Qingjiong

doi:10.3109/13816810.2011.642452

Cited by 18 publications

(14 citation statements)

References 8 publications

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“…24,25,28 In our study, 13 out of 17 identified mutations are predicted to cause PTCs, which is in agreement with previous reports by Chao 16,36,37 and microphthalmia. 36,37 Second, p.(R261*) has been recognized in at least 21 aniridia cases to date. Our patient ID 6 carried this variant and exhibited poor vision (6/75 visual acuity in both eyes), nystagmus, keratopathy and foveal hypoplasia.…”

Section: Discussionsupporting

confidence: 92%

“…First, p.(R203*) is currently reported in 34 cases including in our patient ID 16, who had a poor visual acuity (6/300 OD, 6/95 OS), nystagmus and cataract. This variant is associated with a number of ocular phenotypes including isolated aniridia, nystagmus, glaucoma, cataract, macular and foveal hypoplasia, keratopathy, corneal erosions and vascularization and microphthalmia . Second, p.(R261*) has been recognized in at least 21 aniridia cases to date.…”

Section: Discussionmentioning

confidence: 99%

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PAX6 allelic heterogeneity in Mexican congenital aniridia patients: expanding the mutational spectrum with seven novel pathogenic variants

Pérez-Solórzano

Chacón‐Camacho

Astiazarán

et al. 2017

Clinical Exper Ophthalmology

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Section: Discussionsupporting

confidence: 92%

Section: Discussionmentioning

confidence: 99%

PAX6 allelic heterogeneity in Mexican congenital aniridia patients: expanding the mutational spectrum with seven novel pathogenic variants

Pérez-Solórzano

Chacón‐Camacho

Astiazarán

et al. 2017

Clinical Exper Ophthalmology

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“…Pax6 is regarded as the true master control gene that specifies eye development in both vertebrates and insects . When Pax6 was mutated in human it led to microphthalmia , aniridia and pan‐ocular disorder . We demonstrated the Pax6 protein expression pattern in the early stage of chick eye, –showing it was expressed in the optic vesicle, invaginating lens placode and the retinal pigment epithelium.…”

Section: Discussionmentioning

confidence: 85%

Excess caffeine exposure impairs eye development during chick embryogenesis

Wang

Cheng

et al. 2014

J Cellular Molecular Medi

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Caffeine has been an integral component of our diet and medicines for centuries. It is now known that over consumption of caffeine has detrimental effects on our health, and also disrupts normal foetal development in pregnant mothers. In this study, we investigated the potential teratogenic effect of caffeine over-exposure on eye development in the early chick embryo. Firstly, we demonstrated that caffeine exposure caused chick embryos to develop asymmetrical microphthalmia and induced the orbital bone to develop abnormally. Secondly, caffeine exposure perturbed Pax6 expression in the retina of the developing eye. In addition, it perturbed the migration of HNK-1+ cranial neural crest cells. Pax6 is an important gene that regulates eye development, so altering the expression of this gene might be the cause for the abnormal eye development. Thirdly, we found that reactive oxygen species (ROS) production was significantly increased in eye tissues following caffeine treatment, and that the addition of anti-oxidant vitamin C could rescue the eyes from developing abnormally in the presence of caffeine. This suggests that excess ROS induced by caffeine is one of the mechanisms involved in the teratogenic alterations observed in the eye during embryogenesis. In sum, our experiments in the chick embryo demonstrated that caffeine is a potential teratogen. It causes asymmetrical microphthalmia to develop by increasing ROS production and perturbs Pax6 expression.

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“…As morphogenesis proceeds, Pax6 is expressed in the lens, retinal pigment epithelium and retina [29]. In humans with mutations in Pax6, microphthalmia, aniridia [30,31] and pan-ocular disorders are observed [32]. Loss of Pax6 function leads to an eyeless phenotype in mice [33,34].…”

Section: Discussionmentioning

confidence: 99%

Effects of High Salt-Exposure on the Development of Retina and Lens in 5.5-Day Chick Embryo

Chen¹,

Wang²,

Wang³

et al. 2014

Cell Physiol Biochem

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Background/Aims: Excess maternal salt intake during pregnancy may alter fetal development. However, our knowledge on how an increased salt intake during pregnancy influences fetal eye development is limited. In this study, we investigated the effects of high-salt treatment on the developing eyes in chick embryos, especially focusing on the development of the retina and the lens. Methods: 5.5-day chick embryos were exposed to 280mosm/l (n=17), or 300mosm/l (n=16) NaCl. The treated embryos were then incubated for 96 hours before they were fixed with 4% paraformaldehyde for H&E staining, whole-mount embryo immunostaining and TUNEL staining. BrdU and PH3 incorporation experiments were performed on the chick embryos after high-salt treatment. RT-PCR analyses were conducted from chick retina tissues. Results: We demonstrated that high-salt treatment altered the size of eyes in chick embryos, induced malformation of the eyes and impaired the development of the lens and the retina. We found an impaired expression of Paired box 6 (PAX6) and neuronal cells in the developing retina as revealed by neurofilament immunofluorescent staining. There was a reduction in the number of BrdU-positive cells and PH3-positive cells in the retina, indicating an impaired cell proliferation with high-salt treatment. High-salt treatment also resulted in an increased number of TUNEL-positive cells in the retina, indicating a higher amount of cell death. RT-PCR data displayed that the expression of the pro-apoptotic molecule nerve growth factor (NGF) in chick retina was increased and CyclinD1 was reduced with high-salt treatment. The size of the lens was reduced and Pax6 expression in the lens was significantly inhibited. High salt-treatment was detrimental to the migration of neural crest cells. Conclusion: Taken together, our study demonstrated that high-salt exposure of 5.5-day chick embryos led to an impairment of retina and lens development, possibly through interfering with Pax6 expression.

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Microphthalmia, late onset keratitis, and iris coloboma/aniridia in a family with a novelPAX6mutation

Cited by 18 publications

References 8 publications

PAX6 allelic heterogeneity in Mexican congenital aniridia patients: expanding the mutational spectrum with seven novel pathogenic variants

PAX6 allelic heterogeneity in Mexican congenital aniridia patients: expanding the mutational spectrum with seven novel pathogenic variants

Excess caffeine exposure impairs eye development during chick embryogenesis

Effects of High Salt-Exposure on the Development of Retina and Lens in 5.5-Day Chick Embryo

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