Unusual Case of Globe Perforation: the Brittle Cornea Without Systemic Manifestations

Overview

Journal BMJ Case Rep

Specialty General Medicine

Date 2016 Oct 21

PMID 27758814

Citations 4

Authors

Shilpa Ajit Joshi

Shalomith Uppapalli

Pranav More

Madan Deshpande

Affiliations

Soon will be listed here.

Abstract

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.

Citing Articles

Brittle cornea syndrome: A novel mutation.

Geng X, Zhu L, Li J, Li Z Heliyon. 2024; 10(11):e32506.

PMID: 38961930 PMC: 11219502. DOI: 10.1016/j.heliyon.2024.e32506.

Surgical technique for the management of corneal perforation in brittle cornea.

Matalia H, Nandini C, Matalia J Indian J Ophthalmol. 2021; 69(9):2521-2523.

PMID: 34427257 PMC: 8544084. DOI: 10.4103/ijo.IJO_2542_20.

Dental Manifestations of Ehlers-Danlos Syndromes: A Systematic Review.

Kapferer-Seebacher I, Schnabl D, Zschocke J, Pope F Acta Derm Venereol. 2020; 100(7):adv00092.

PMID: 32147746 PMC: 9128968. DOI: 10.2340/00015555-3428.

Brittle cornea syndrome: current perspectives.

Walkden A, Burkitt-Wright E, Au L Clin Ophthalmol. 2019; 13:1511-1516.

PMID: 31496642 PMC: 6698176. DOI: 10.2147/OPTH.S185287.

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