Author:
Wang Huixian,Zhang Xu,Gao Xiaowei,Li Wenjing
Abstract
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.
Publisher
Springer Science and Business Media LLC
Subject
Ophthalmology,General Medicine
Reference22 articles.
1. Swierkowska J, Gajecka M. Genetic factors influencing the reduction of central corneal thickness in disorders affecting the eye. Ophthalmic Genet. 2017;38:501–10.
2. Avgitidou G, Siebelmann S, Bachmann B, Kohlhase J, Heindl LM, Cursiefen C. Brittle Cornea Syndrome: Case Report with Novel Mutation in the PRDM5 Gene and Review of the Literature. Case Rep Ophthalmol Med. 2015;2015:637084.
3. Burkitt Wright EMM, Porter LF, Spencer HL, Clayton-Smith J, Au L, Munier FL, et al. Brittle cornea syndrome: recognition, molecular diagnosis and management. Orphanet J Rare Dis. 2013;8:68.
4. Wan Q, Tang J, Han Y, Xiao Q, Deng Y. Brittle cornea syndrome: a case report and review of the literature. BMC Ophthalmol. 2018;18:252.
5. Micheal S, Siddiqui SN, Zafar SN, Gabriëla Niewold IT, Khan MI, Bergen AAB. Identification of a Novel ZNF469 Mutation in a Pakistani Family With Brittle Cornea Syndrome. Cornea. 2019;38:718–22.