Bilateral Spontaneous Corneal Rupture in Brittle Cornea Syndrome

Izquierdo, Luis; Mj, Mannis; Pb, Marsh; Sp, Yang; Jm, McCarthy

doi:10.1097/00003226-199909000-00019

Cited by 26 publications

(33 citation statements)

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“…Retinal detachment has rarely been reported in patients with BCS. 12 Most patients, however, have been examined at a young age, and retinal detachments may therefore not have occurred yet.…”

Section: Discussionmentioning

confidence: 99%

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Brittle Cornea Syndrome Associated with a Missense Mutation in the Zinc-Finger 469 Gene

Christensen¹,

Knappskog²,

Midtbø

et al. 2010

Invest. Ophthalmol. Vis. Sci.

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Section: Discussionmentioning

confidence: 99%

“…Conductive hearing loss, as seen in IV-4 17 ; sensorineural hearing loss 2,10 ; and combined hearing loss (individual IV-6) have been reported. 12 The basis for the combined hearing loss is uncertain. A CT scan of IV-6 did not show otosclerotic foci.…”

Section: Discussionmentioning

confidence: 99%

Brittle Cornea Syndrome Associated with a Missense Mutation in the Zinc-Finger 469 Gene

Christensen¹,

Knappskog²,

Midtbø

et al. 2010

Invest. Ophthalmol. Vis. Sci.

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“…BCS is an autosomal recessive generalised connective tissue disorder characterised by corneal perforation, either after a minor trauma or spontaneously 5. There are two types of BCS; BCS type 1 is caused by mutations in the ZNF469 gene and BCS type 2 is caused by mutations in the PRDM5 gene.…”

Section: Discussionmentioning

confidence: 99%

Unusual case of globe perforation: the brittle cornea without systemic manifestations

Joshi

Uppapalli

et al. 2016

BMJ Case Reports

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Brittle cornea syndrome is a rare generalised connective tissue disorder with ocular features like keratoglobus or keratoconus, severe corneal thinning and a high risk of perforation. Various authors in different case reports and case series have brought out the fact that brittle cornea is a disorder with characteristic systemic manifestations such as deafness, joint hypermobility, hyperelasticity of skin, kyphoscoliosis and dental abnormalities alongwith ophthalmic features. We report a case of globe perforation following trivial trauma, in an individual with brittle cornea without any extraocular manifestations, posing a challenge in the diagnosis and dilemma in surgical repair of cornea, restoration of globe integrity and visual rehabilitation. The absence of systemic manifestations decreased the index of suspicion and led to a surprise in the theatre-a point this case emphasised.

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“…1 Other features include keratoconus or keratoglobus, blue sclera, red hair, hyperelasticity of the skin without excessive fragility, and hypermobility of the joints.…”

Section: Discussionmentioning

confidence: 99%

“…1 It usually follows either penetrating eye injury or intraocular surgery. Although sympathetic ophthalmia has previously been described after irradiation of ocular melanoma, 2 3 it has never been reported after simple 106 Ru plaque brachytherapy.…”

Section: Sympathetic Ophthalmia After Ruthenium Plaque Brachytherapymentioning

confidence: 99%

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

Hussin¹,

Biswas

Majid

et al. 2007

British Journal of Ophthalmology

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Bilateral Spontaneous Corneal Rupture in Brittle Cornea Syndrome

Cited by 26 publications

References 0 publications

Brittle Cornea Syndrome Associated with a Missense Mutation in the Zinc-Finger 469 Gene

Brittle Cornea Syndrome Associated with a Missense Mutation in the Zinc-Finger 469 Gene

Unusual case of globe perforation: the brittle cornea without systemic manifestations

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

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