Control of Patterns of Corneal Innervation by Pax6

Leiper, Lucy J.; Ou, Jiamin; Walczysko, Petr; Kucerova, Romana; Lavery, Derek N.; West, John D.; Collinson, J. Martin

doi:10.1167/iovs.08-2812

Cited by 44 publications

(30 citation statements)

References 51 publications

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“…At approximately 3 weeks after birth, the subbasal nerves orient toward the central cornea, which results in a swirl pattern that persists during postnatal development and adulthood. 68,69 A similar swirl pattern was observed in human. 70 Although studies have shown radial projections of stromal nerves in the adult human cornea similar to chick, their patterning during development remains unclear.…”

Section: Corneal Innervationsupporting

confidence: 76%

Corneal Development

Lwigale

2015

Progress in Molecular Biology and Translational Science

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Section: Corneal Innervationsupporting

confidence: 76%

Corneal Development

Lwigale

2015

Progress in Molecular Biology and Translational Science

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“…38,40 In mouse models, heterozygous Pax6 +/-adult mice exhibited decreased epithelial innervation and nerve patterns were disrupted. 41 In humans, IVCM has been used to quantify subbasal epithelial nerves in LSCD, where a markedly reduced nerve density has likewise been found in a case series without aniridia patients 35 and in a series including two aniridia patients. 34 In a Swedish cohort of 16 aniridia subjects where IVCM was used, a wide range of subbasal nerve density was reported, including 3 patients with abnormally high innervation of the central cornea.…”

Section: Corneal Nervesmentioning

confidence: 99%

Congenital Aniridia and the Ocular Surface

et al. 2016

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Aniridia is a congenital pan-ocular disorder caused by haplo-insufficiency of Pax6, a crucial gene for proper development of the eye. Aniridia affects a range of eye structures, including the cornea, iris, anterior chamber angle, lens, and fovea. The ocular surface in particular can be severely affected by a progressive pathology termed aniridiaassociated keratopathy (AAK), markedly contributing to impaired vision. The purpose of this review is to provide an update of the current knowledge of the genetic, clinical, micromorphological, and molecular aspects of AAK. We draw upon material presented in the literature and from our own observations in large aniridia cohorts. We summarize signs and symptoms of AAK, describe current options for management, and discuss the latest research 2 findings that may lead to better diagnosis and new treatment or prevention strategies for this debilitating ocular surface condition.

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“…VEGF is also known to influence nerve growth [10;11] which may be a contributing factor to PAX6 since the dosage of PAX6 itself is the main factor contributing to pathological pattern of corneal innervation in aniridia [12]. It has also been suggested [13] that nerve growth factor receptor TrkA is involved in the regulation of the normal stem cell turnover.…”

Section: Introductionmentioning

confidence: 99%

Analysis of protein composition and protein expression in the tear fluid of patients with congenital aniridia

Ihnatko

Edén

Lagali

et al. 2013

Journal of Proteomics

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Aniridia is a rare congenital genetic disorder caused by haploinsuffiency of the PAX6 gene, the master gene for development of the eye. The expression of tear proteins in aniridia is unknown. To screen for proteins involved in the aniridia pathophysiology, the tear fluid of patients with diagnosed congenital aniridia was examined using two-dimensional electrophoresis (2-DE) and liquid chromatography-tandem mass spectrometry (LC-MS/MS). Two-dimensional map of tear proteins in aniridia has been established and 7 proteins were differentially expressed with P less than 0.01 between aniridia patients and control subjects. Five of them were more abundant in healthy subjects, particularly alpha-enolase, peroxiredoxin 6, cystatin S, gelsolin, apolipoprotein A-1 and two other proteins, zinc-alpha 2-glycoprotein and lactoferrin were more expressed in the tears of aniridia patients. Moreover, immunoblot analysis revealed elevated levels of vascular endothelial growth factor (VEGF) in aniridia tears which is in concordance with clinical finding of pathological blood and lymph vessels in the central and peripheral cornea of aniridia patients. The proteins with different expression in patients tears may be new candidate molecules involved in the pathophysiology of aniridia and thus may be helpful for development of novel treatment strategies for the symptomatic therapy of this vision threatening condition. Biological significance This study is first to demonstrate protein composition and protein expression in aniridic tears and identifies proteins with different abundance in tear fluid from patients with congenital aniridia vs. healthy tears

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Control of Patterns of Corneal Innervation by Pax6

Abstract: Pax6 dosage nonautonomously controls robust directed radial projection of corneal neurons, and the guidance cues for growth cone guidance are not solely dependent on directed epithelial migration. There is little evidence that ARK represents neurotrophic keratitis.

Cited by 44 publications

References 51 publications

Corneal Development

Corneal Development

Congenital Aniridia and the Ocular Surface

Analysis of protein composition and protein expression in the tear fluid of patients with congenital aniridia

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