Corneal Abnormalities in Ehlers-Danlos Syndrome Type VI
Abstract
Eleven patients with blue sclera, limbus-to-limbus corneal thinning, hypermobile joints, and consanguineous parents were examined between January 1983 and September 1991. The clinical diagnosis was consistent with the Ehlers-Danlos syndrome type VI phenotype in all patients. A "halo" sign at the limbus was present in all patients. Corneal rupture occurred in seven patients (nine eyes) either spontaneously or following minimal trauma. Acute hydrops occurred in three patients. Bilateral microcornea was present in one patient and two patients had a unilateral increased corneal diameter as a result of secondary glaucoma after trauma. Peripheral sclerocornea was present bilaterally in five patients. Curvature abnormalities included cornea plana, keratoconus, and keratoglobus.
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BCS and EDS kyphoscoliosis type were previously considered to represent the same disorder on the basis of overlapping clinical features, but this claim was later questioned and proven wrong on the basis of biochemical studies.
“On the basis of overlapping clinical features, BCS and EDS kyphoscoliosis type were previously considered to represent the same disorder [Cameron, 1993].Because of subtle clinical differences, this claim was later questioned and proven wrong on the basis of biochemical studies.”
From The Ehlers–Danlos syndromes, rare types (2017) · cites this paper as Cameron, 1993
Brittle cornea syndrome (BCS) is a rare autosomal recessive generalized hereditary connective tissue disorder, hallmarked by a thin and fragile cornea that tends to perforate spontaneously or after minor trauma.
“Brittle cornea syndrome is a rare autosomal recessive generalized HCTD, hallmarked by a thin and fragile cornea that tends to perforate spontaneously or after minor trauma.”
From The Ehlers–Danlos syndromes, rare types (2017) · cites this paper as Cameron, 1993
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The Ehlers–Danlos syndromes, rare types
Brady, A. F., Demirdas, S., Fournel‐Gigleux, S., Ghali, N., Giunta, C., Kapferer‐Seebacher, I., Kosho, T., Mendoza‐Londono, R., Pope, M. F., Rohrbach, M., et al. (2017) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31550 · Cited by 249 · see citing works
Burkitt Wright, E. M. M., Spencer, H. L., Daly, S. B., Manson, F. D. C., Zeef, L. A. H., Urquhart, J., Zoppi, N., Bonshek, R., Tosounidis, I., Mohan, M., et al. (2011) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.05.007 · Cited by 135 · see citing works
- Authors
- Cameron, J. A.
- Affiliations
- King Khaled Eye Specialist Hospital (SA)
- Corresponding author
- Cameron, James A.
- ORCID
- Cameron, James A.
- Venue
- Cornea
- Published
- 1993-01
- Volume
- 12
- Issue
- 1
- Pages
- 54-59
- ISSN
- 0277-3740 (ISSN-L)
- OpenAlex
- W2050727565
- Cited by
- 97
- References
- 0
- Citations by year
- 2024: 3 · 2023: 4 · 2022: 5 · 2021: 11 · 2020: 5 · 2019: 3 · 2018: 3 · 2017: 5 · 2016: 4 · 2014: 3 · 2013: 10 · 2012: 4
- FWCI
- 0.38
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Cornea (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Radiology, Nuclear Medicine and Imaging › Corneal surgery and disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Ocular Disorders and Treatments
- Keywords
- Ehlers-Danlos syndrome type VI, corneal abnormalities, corneal rupture, corneal hydrops, microcornea, keratoconus, keratoglobus, halo sign, blue sclera, consanguinity
- MeSH terms
- Adolescent, Child, Child, Preschool, Cornea, Ehlers-Danlos Syndrome, Female, Humans, Male, Visual Acuity
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