title: Brittle cornea syndrome: a case report and comparison with Ehlers Danlos syndrome.
abstract: We report a 6-week-old white boy of nonconsanguineous parents who presented with bluish scleral discoloration, thin corneas, and progressive high myopia. A diagnosis of brittle cornea syndrome was confirmed by molecular analysis and prompt measures were taken to manage the condition. Long-term follow-up of children diagnosed with brittle cornea syndrome is important to minimize the risks of corneal rupture and for detecting late-onset systemic conditions.
authors.affiliation: Miles Center for Pediatric Ophthalmology, Storm Eye Institute, Department of Ophthalmology, Medical University of South Carolina, Charleston; Cornea and Anterior Segment Services, L V Prasad Eye Institute, Kallam Anji Reddy Campus, Hyderabad, India.
authors.forename: Muralidhar
authors.initials: M
authors.lastname: Ramappa
authors.affiliation: Miles Center for Pediatric Ophthalmology, Storm Eye Institute, Department of Ophthalmology, Medical University of South Carolina, Charleston. Electronic address: wilsonme@musc.edu.
authors.forename: M Edward
authors.initials: ME
authors.lastname: Wilson
authors.affiliation: Greenwood Genetics Center, Greenville Office, Greenville, South Carolina.
authors.forename: R Curtis
authors.initials: RC
authors.lastname: Rogers
authors.affiliation: Miles Center for Pediatric Ophthalmology, Storm Eye Institute, Department of Ophthalmology, Medical University of South Carolina, Charleston.
authors.forename: Rupal H
authors.initials: RH
authors.lastname: Trivedi
mesh_terms: D003316:Corneal Diseases / Q000150:complications* / Q000175:diagnosis / Q000628:therapy; D004252:DNA Mutational Analysis; D004535:Ehlers-Danlos Syndrome / Q000150:complications* / Q000175:diagnosis / Q000628:therapy; D005124:Eye Abnormalities; D005135:Eye Protective Devices; D017353:Gene Deletion; D006801:Humans; D007223:Infant; D007593:Joint Instability / Q000151:congenital; D008297:Male; D047728:Myopia, Degenerative / Q000175:diagnosis; D017354:Point Mutation / Q000235:genetics; D016133:Polymerase Chain Reaction; D015422:Scleral Diseases / Q000175:diagnosis; D012868:Skin Abnormalities; D014157:Transcription Factors / Q000235:genetics
chemical_list: D014157:Transcription Factors; C530065:ZNF469 protein, human