&lt;p&gt;Brittle cornea syndrome: current perspectives&lt;/p&gt;

Walkden, Andrew; Burkitt-Wright, Emma; Au, Leon

doi:10.2147/opth.s185287

Cited by 24 publications

(55 citation statements)

References 48 publications

(75 reference statements)

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“…Corneal edema resulting from breaks in the Descemet's membrane may occur, and extremely thin corneas are prone to rupture after minor injury ( Burkitt Wright et al, 2013 ). No longitudinal studies of CCT in BCS have been reported, probably due to the young age at which corneal perforations occur {mean age of published cases with rupture, 4.3 years of age [range 1.5-19 years ( Walkden et al, 2019 )]}. None of our BCS mice, aged up to 9 months, suffered from cornea rupture, and only one case of corneal edema was recorded.…”

Section: Discussionmentioning

confidence: 99%

A mouse model of brittle cornea syndrome caused by mutation in Zfp469

Stanton

Findlay

Drake

et al. 2021

Disease Models &Amp; Mechanisms

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Brittle Cornea Syndrome (BCS) is a rare recessive condition characterised by extreme thinning of the cornea and sclera. BCS results from loss-of-function mutations in the poorly understood genes ZNF469 or PRDM5. In order to determine the function of ZNF469 and to elucidate pathogenic mechanisms, we used genome editing to recapitulate a human ZNF469 BCS mutation in the orthologous mouse gene, Zfp469. Ophthalmic phenotyping showed that homozygous Zfp469 mutation causes significant central and peripheral corneal thinning arising from reduced stromal thickness. Expression of key components of the corneal stroma in primary keratocytes from Zfp469BCS/BCS mice is affected, including decreased Col1a1 and Col1a2 expression. This alters the type I:type V collagen ratio and results in collagen fibrils with smaller diameter and increased fibril density in homozygous mutant corneas, correlating with decreased biomechanical strength in the cornea. Cell-derived matrices generated by primary keratocytes show reduced deposition of type I collagen offering an in vitro model for stromal dysfunction. Work remains to determine whether modulating ZNF469 activity will have therapeutic benefit in BCS or in conditions such as keratoconus where the cornea thins progressively.

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Section: Discussionmentioning

confidence: 99%

A mouse model of brittle cornea syndrome caused by mutation in Zfp469

Stanton

Findlay

Drake

et al. 2021

Disease Models &Amp; Mechanisms

View full text Add to dashboard Cite

show abstract

“…It also affects the development of retinal microvasculature and Bruch's membrane. [ 5 ] However, these abnormal retinal microvascular changes are evident only on immunohistochemistry. [ 13 ]…”

Section: Discussionmentioning

confidence: 99%

“…[ 1 3 ] Mutations in PRDM5 produces abnormal fibrillar collagen affecting corneal integrity and alterations in retinal capillaries and Bruch's membrane. [ 5 ] Type 1 BCS has wrinkled skin involving palms and soles with scarring, molluscoid pseudotumors, and chestnut-coloured hair. [ 6 7 ] Whereas, in Type 2 the skin is soft with easy bruisabilty.…”

mentioning

confidence: 99%

Case report of a PRDM5 linked brittle cornea syndrome type 2 in association with a novel SLC6A5 mutation

Selina

John

Loganathan

et al. 2020

Indian J Ophthalmol

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“…I have read with great interest the review article by Walkden et al on “Brittle Cornea Syndrome: Current Perspectives” 1. I would like to express my appreciation to the authors for an elaborate and comprehensive review of this complex disease which has devastating complications.…”

Section: Dear Editormentioning

confidence: 99%