Background: Brittle cornea syndrome (BCS) is a rare autosomal recessive connective tissue disorder that typically includes ocular and extraocular features. Because of the similarity of BCS to other ectatic corneal conditions, minimal or nonspecific extraocular systemic features, resemblance to other connective tissue disorders, and its occult nature, it is likely to remain under-diagnosed or misdiagnosed.
Case presentation: We report the case of a 2-year-old boy of consanguineous parents with spontaneous globe rupture of the right eye, which raised suspicion of child abuse. Bilateral thin cornea, difficulty in surgical wound closure, type of extraocular findings, history of globe rupture in his brother following minor trauma, and similar ocular features in the sibling ruled out child abuse.Genetic analysis showed a homozygous mutation in the ZNF469 gene confirming the diagnosis of BCS. To reduce the risk of spontaneous corneal rupture of the fellow eye, the limbal stem cell sparing lamellar keratoplasty (LSCS-LKP) surgical technique was performed which remained stable after a one-year follow-up.
Conclusions: BSC should be considered in any case especially the kids with spontaneous corneal rupture expressing no history of trauma or a history incompatible with the injury, especially when the cornea is thin and fragile or the surgical wound closure is difficult. Genetic tests in addition to clinical findings can help distinguish BCS from similar diseases including Child abuse, types of EDS, Marfan disease, and Osteogenesis imperfecta. To reduce the risk of globe rupture of the fellow eye, a large diameter LSCS-LKP can be used as a promising technique.
Keywords: Brittle cornea syndrome, Spontaneous globe rupture, Thin cornea, Limbal stem cell sparing lamellar keratoplasty, Child abuse