Characteristics of brittle cornea syndrome by multimodal imaging modalities: a case report

Abstract

Background A report of a Brittle cornea syndrome (BCS) case with bluish scleral discoloration, keratoglobus, and myopia based on multimodal imaging modalities including in vivo confocal microscopy (IVCM), high-definition optical coherence tomography (HD-OCT) and scheimpflug corneal densitometry analysis. Case presentation A 36-year-old Chinese female patient presented with significant bluish discoloration of the sclera in both eyes, extreme corneal thinning with increased corneal curvature, increased central corneal densitometry, and nystagmus. She also had scoliosis, severe osteoporosis, and thyroid disease. Conclusions Timely diagnosis, early detection, and detailed follow-up are essential for BCS. There has been no report of a BCS evaluation performed by IVCM and corneal densitometry methods thus far in the literature. Furthermore, multimodal imaging can offer a more comprehensive view of BCS and contribute to a deeper understanding of the disease. Interestingly, this is a rare case of BCS in an adult with good vision, an intact cornea, and nystagmus.

Brittle cornea syndrome: A novel mutation

“…BCS patients often present with a thin, spherical cornea and scleral discolouration [ 10 , 11 ]. In addition, some patients may be complicated with other systemic symptoms, such as frequent fractures and excessive flexion and extension of the joints [ 5 , 10 , 12 ].…”

“…In China, Wan et al reported the case of a 6-year-old girl with blue sclera and extreme corneal thinning with anterior corneal protrusion who was diagnosed with BCS [ 16 ]. Wang et al reported a 36-year-old Chinese female patient presented with significant bluish discolouration of the sclera in both eyes, extreme corneal thinning with increased corneal curvature, increased central corneal densitometry, scoliosis, severe osteoporosis, and thyroid disease [ 11 ]. Neither of these studies conducted further analyses of the types of mutations that might be present.…”