A novel technique to treat traumatic corneal perforation in a case of presumed brittle cornea syndrome

Hussin, Hussin Mohamed; Biswas, Samar; Majid, MA; Haynes, Richard; Tole, Derek

doi:10.1136/bjo.2006.102178

Cited by 11 publications

(6 citation statements)

References 5 publications

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“…The 18 year-old female patient, whose technical details of corneal repair were previously reported by Hussin et al [29] , had visual acuity reduced to perception of hand movements bilaterally from the age of 11 years, following multiple bilateral corneal ruptures secondary to minimal trauma. She was the child of first cousin parents of Pakistani origin, and had two brothers with normal vision and no relevant family history.…”

Section: Resultsmentioning

confidence: 91%

ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components

Rohrbach

Spencer

Porter

et al. 2013

Molecular Genetics and Metabolism

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Brittle cornea syndrome (BCS; MIM 229200) is an autosomal recessive generalized connective tissue disorder caused by mutations in ZNF469 and PRDM5. It is characterized by extreme thinning and fragility of the cornea that may rupture in the absence of significant trauma leading to blindness. Keratoconus or keratoglobus, high myopia, blue sclerae, hyperelasticity of the skin without excessive fragility, and hypermobility of the small joints are additional features of BCS. Transcriptional regulation of extracellular matrix components, particularly of fibrillar collagens, by PRDM5 and ZNF469 suggests that they might be part of the same pathway, the disruption of which is likely to cause the features of BCS. In the present study, we have performed molecular analysis of a cohort of 23 BCS affected patients on both ZNF469 and PRDM5, including those who were clinically reported previously [1]; the clinical description of three additional patients is reported in detail. We identified either homozygous or compound heterozygous mutations in ZNF469 in 18 patients while, 4 were found to be homozygous for PRDM5 mutations. In one single patient a mutation in neither ZNF469 nor PRDM5 was identified. Furthermore, we report the 12 novel ZNF469 variants identified in our patient cohort, and show evidence that ZNF469 is a single exon rather than a two exon gene.

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Section: Resultsmentioning

confidence: 91%

ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components

Rohrbach

Spencer

Porter

et al. 2013

Molecular Genetics and Metabolism

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“…Here we achieved corneal sealing by a combination of cheese wiring sutures with bandage contact lens, pressure patches for one week, and systemic carboanhydrase inhibitors. Alternatively repair of corneal perforations has been described using tissue adhesives in dry conditions, viscoelastic agents, onlay epikeratoplasty, and gas/air tamponade [21]. Intraoperative optical coherence tomography can be of great value to examine these patients with reduced visibility of anterior segment structures [22–25].…”

Section: Discussionmentioning

confidence: 99%

Brittle Cornea Syndrome: Case Report with Novel Mutation in thePRDM5Gene and Review of the Literature

Avgitidou

Siebelmann

Bachmann

et al. 2015

Case Reports in Ophthalmological Medicine

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A 3-year-old boy presented with acute corneal hydrops on the left eye and spontaneous corneal rupture on the right eye. A diagnosis of brittle cornea syndrome was confirmed by molecular analysis. A novel mutation, the homozygous variant c.17T>G, p.V6G, was found in the gene for PR-domain-containing protein 5 (PRDM5) in exon 1. Brittle cornea syndrome is a rare connective tissue disease with typical ocular, auditory, musculoskeletal, and cutaneous disorders. Almost all patients suffer from declined vision due to corneal scarring, thinning, and rupture. The most common ophthalmologic findings include keratoconus, progressive central corneal thinning, high myopia, irregular astigmatism, retinal detachment, and high risk for spontaneous corneal or scleral rupture. In addition to describing the case with a novel mutation here we review the current literature on brittle cornea syndrome pathogenesis, clinical findings, and therapy.

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“…In order to aid anterior chamber reformation, the use of intraocular C 3 F 8 gas has been suggested to provide a tamponade effect. This required a three port vitrectomy in order to facilitate a maximal gas fill, with the aim to provide gas contact with the corneal wound to prevent aqueous egress, allowing wound integrity and healing time whilst keeping the globe formed 43…”

Section: Ocular Featuresmentioning

confidence: 99%

<p>Brittle cornea syndrome: current perspectives</p>

Walkden

Burkitt-Wright

2019

OPTH

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Brittle cornea syndrome (BCS) is a rare autosomal recessive connective tissue disorder characterised by severe corneal thinning, with the major ocular risk being spontaneous ocular perforation due to progressive stromal thinning and ectasia. It is a complex condition with limited treatment options. The purpose of this review is to highlight the difficulties associated with the condition and examine the available published evidence with regards to management.

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A novel technique to treat traumatic corneal perforation in a case of presumed brittle cornea syndrome

Cited by 11 publications

References 5 publications

ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components

ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components

Brittle Cornea Syndrome: Case Report with Novel Mutation in thePRDM5Gene and Review of the Literature

<p>Brittle cornea syndrome: current perspectives</p>

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