Congenital corneal opacities – a surgical approach to nomenclature and classification

Nischal, Ken K.

doi:10.1038/sj.eye.6702840

Cited by 46 publications

(16 citation statements)

References 29 publications

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“…But, considering the small percentage, other unknown causes might also be involved. It is well documented that corneal opacification may be caused by environmental [31]and genetic [31], [32] factors. Viral infection (most commonly herpes virus) and physical injury are the two most common environmental factors.…”

Section: Discussionmentioning

confidence: 99%

Mucin Deficiency Causes Functional and Structural Changes of the Ocular Surface

Floyd

Evans

et al. 2012

PLoS ONE

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MUC5AC is the most abundant gel-forming mucin in the ocular system. However, the specific function is unknown. In the present study, a Muc5ac knockout (KO) mouse model was subject to various physiological measurements as compared to its wide-type (WT) control. Interestingly, when KO mice were compared to WT mice, the mean tear break up time (TBUT) values were significantly lower and corneal fluorescein staining scores were significantly higher. But the tear volume was not changed. Despite the lack of Muc5ac expression in the conjunctiva of KO mice, Muc5b expression was significantly increased in these mice. Corneal opacification, varying in location and severity, was found in a few KO mice but not in WT mice. The present results suggest a significant difference in the quality, but not the quantity, of tear fluid in the KO mice compared to WT mice. Dry eye disease is multifactorial and therefore further evaluation of the varying components of the tear film, lacrimal unit and corneal structure of these KO mice may help elucidate the role of mucins in dry eye disease. Because Muc5ac knockout mice have clinical features of dry eye, this mouse model will be extremely useful for further studies regarding the pathophysiology of the ocular surface in dry eye in humans.

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Section: Discussionmentioning

confidence: 99%

Mucin Deficiency Causes Functional and Structural Changes of the Ocular Surface

Floyd

Evans

et al. 2012

PLoS ONE

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“…Secondary CCO results from kerato‐irido‐lenticular dysgenesis where there may be abnormalities of early lens development or iridocorneal adhesions. The term “sclerocornea” has been used to describe various entities featuring a non‐inflammatory, non‐progressive condition involving the extension of opaque vascularized scleral tissue onto either the periphery or entire cornea …”

Section: Introductionmentioning

confidence: 99%

“…The term "sclerocornea" has been used to describe various entities featuring a non-inflammatory, non-progressive condition involving the extension of opaque vascularized scleral tissue onto either the periphery or entire cornea. 2,3 Several difficulties exist for clinicians in providing accurate clinical and genetic diagnosis, and counseling for patients and families with sclerocornea. Firstly, due to the corneal opacity and postsurgical changes, underlying structures of the eye may be difficult to visualize, so there may be lack of awareness of other ocular features such as cataracts or other anterior segment changes.…”

Section: Introductionmentioning

confidence: 99%

New mutations in GJA8 expand the phenotype to include total sclerocornea

Grigg

Prokudin

et al. 2017

Clinical Genetics

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This project expands the disease spectrum for mutations in GJA8 to include total sclerocornea, rudimentary lenses and microphthalmia, in addition to this gene's previously known role in isolated congenital cataracts. Ophthalmic findings revealed bilateral total sclerocornea in 3 probands, with small abnormal lenses in 2 of the cases, and cataracts and microphthalmia in 1 case. Next-generation sequencing revealed de novo heterozygous mutations affecting the same codon of GJA8 : (c.281G>A; p.(Gly94Glu) and c.280G>C; p.(Gly94Arg)) in 2 of the probands, in addition to the c.151G>A; p.(Asp51Asn) mutation we had previously identified in the third case. In silico analysis predicted all of the mutations to be pathogenic. These cases show that deleterious, heterozygous mutations in GJA8 can lead to a severe ocular phenotype of total sclerocornea, abnormal lenses, and/or cataracts with or without microphthalmia, broadening the phenotype associated with this gene. GJA8 should be included when investigating patients with the severe anterior segment abnormality of total sclerocornea.

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“…In this study, we investigated the clinical features and visual outcomes of ASD-associated CCO in a large number of patients. We also reviewed the classification of ASD 3,[6][7][8][9][10][11][12][13]15,17,18 and compared the diagnosis of both eyes of patients with Peters anomaly in 1 eye to study ASD overlap. [19][20][21] …”

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confidence: 99%