Case Series of Brittle Cornea Syndrome
Joint Authors
Berrocal, Audina M.
Eleiwa, Taher
Raheem, Mariam
Patel, Nimesh A.
Grajewski, Alana
Abou Shousha, Mohamed
Source
Case Reports in Ophthalmological Medicine
Issue
Vol. 2020, Issue 2020 (31 Dec. 2020), pp.1-6, 6 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2020-03-20
Country of Publication
Egypt
No. of Pages
6
Main Subjects
Abstract EN
Purpose.
This case series demonstrate diagnostic features, treatment options, and challenges for Brittle Cornea Syndrome.
Observations.
Three cases presented with bluish sclera and extremely thin cornea.
Genetic workup was performed and confirmed the diagnosis of Brittle Cornea Syndrome, a rare autosomal recessive disorder characterized by corneal thinning and blue sclera.
Case 1 was a 4-year-old boy who developed cataract and glaucoma after undergoing right tectonic penetrating keratoplasty (PK) secondary to a spontaneous corneal rupture.
Glaucoma was controlled medically.
Later, the kid underwent right transcorneal lensectomy and vitrectomy with synechiolysis.
After 6 weeks, he sustained graft dehiscence that was repaired using onlay patch graft.
Case 2 was a 7-year-old boy who underwent PK in the right eye, then a pericardial patch graft in the left eye following spontaneous corneal rupture.
Glaucoma in both eyes was controlled medically.
Case 3 was the 2-year-old sister of the 2nd case.
She had a pachymetry of 238 μm OD and 254 μm OS.
In the 3 cases, parents were instructed to take protective measures for both eyes and to continue with follow-up visits.
Also, they were instructed to have regular screenings for late-onset hearing loss, dental abnormalities, and bone deformities.
Conclusions.
Long-term follow-up of children diagnosed with Brittle Cornea Syndrome is paramount to minimize the morbidity of corneal rupture and late-onset extraocular conditions.
American Psychological Association (APA)
Eleiwa, Taher& Raheem, Mariam& Patel, Nimesh A.& Berrocal, Audina M.& Grajewski, Alana& Abou Shousha, Mohamed. 2020. Case Series of Brittle Cornea Syndrome. Case Reports in Ophthalmological Medicine،Vol. 2020, no. 2020, pp.1-6.
https://search.emarefa.net/detail/BIM-1149598
Modern Language Association (MLA)
Eleiwa, Taher…[et al.]. Case Series of Brittle Cornea Syndrome. Case Reports in Ophthalmological Medicine No. 2020 (2020), pp.1-6.
https://search.emarefa.net/detail/BIM-1149598
American Medical Association (AMA)
Eleiwa, Taher& Raheem, Mariam& Patel, Nimesh A.& Berrocal, Audina M.& Grajewski, Alana& Abou Shousha, Mohamed. Case Series of Brittle Cornea Syndrome. Case Reports in Ophthalmological Medicine. 2020. Vol. 2020, no. 2020, pp.1-6.
https://search.emarefa.net/detail/BIM-1149598
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1149598