title: Unusual case of globe perforation: the brittle cornea without systemic manifestations.
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.
authors.affiliation: Department of Cornea, PBMA's H.V. Desai Eye Hospital, Pune, Maharashtra, India.
authors.forename: Shilpa Ajit
authors.initials: SA
authors.lastname: Joshi
authors.affiliation: Department of Cornea, H.V. Desai Eye Hospital, Pune, Maharashtra, India.
authors.forename: Shalomith
authors.initials: S
authors.lastname: Uppapalli
authors.affiliation: Department of Cornea, H.V. Desai Eye Hospital, Pune, Maharashtra, India.
authors.forename: Pranav
authors.initials: P
authors.lastname: More
authors.affiliation: H.V. Desai Eye Hospital, Pune, Maharashtra, India.
authors.forename: Madan
authors.initials: M
authors.lastname: Deshpande
mesh_terms: D000293:Adolescent; D003315:Cornea; D057112:Corneal Perforation / Q000175:diagnosis* / Q000601:surgery; D003319:Corneal Stroma / Q000503:physiopathology; D016039:Corneal Transplantation / Q000379:methods*; D003937:Diagnosis, Differential; D003951:Diagnostic Errors / Q000517:prevention & control; D005124:Eye Abnormalities / Q000175:diagnosis*; D005260:Female; D006801:Humans; D007593:Joint Instability / Q000151:congenital* / Q000175:diagnosis; D012868:Skin Abnormalities / Q000175:diagnosis*