Brittle cornea, blue sclera, and red hair syndrome (the brittle cornea syndrome).
Open accessAbstract
A syndrome of red hair, blue sclera, and brittle cornea with recurrent spontaneous perforations is presented in 2 siblings of a Tunisian Jewish family. The genetic transmission of this disorder is autosomal recessive. This is the second description of this syndrome, which should be called the 'brittle cornea syndrome'. This syndrome has so far been reported only in Tunisian Jewish families.
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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 Ticho et al., 1980
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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
Deleterious Mutations in the Zinc-Finger 469 Gene Cause Brittle Cornea Syndrome
Abu, A., Frydman, M., Marek, D., Pras, E., Nir, U., Reznik-Wolf, H., & Pras, E. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.04.001 · Cited by 139 · see citing works
- Authors
- Ticho, U., Ivry, M., & Merin, S.
- Affiliations
- Hadassah Medical Center (IL)
- Venue
- British Journal of Ophthalmology
- Publisher
- BMJ
- Published
- 1980-03-01
- Volume
- 64
- Issue
- 3
- Pages
- 175-177
- ISSN
- 0007-1161 (ISSN-L)
- PMC
- PMC1039382
- OpenAlex
- W2019246186
- Cited by
- 28
- References
- 0
- Citations by year
- 2024: 2 · 2022: 1 · 2021: 3 · 2019: 2 · 2018: 2 · 2017: 1 · 2016: 1 · 2015: 1 · 2014: 3 · 2013: 1 · 2012: 2
- FWCI
- 0.00
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- British Journal of Ophthalmology (publishedVersion)
- PubMed Central (publishedVersion)
- Europe PMC (PubMed Central) (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
- brittle cornea syndrome, blue sclera, red hair, corneal perforation, autosomal recessive inheritance, familial inheritance, corneal dystrophy
- MeSH terms
- Adolescent, Child, Corneal Diseases, Eye Diseases, Female, Hair Color, Humans, Male, Pedigree, Rupture, Spontaneous, Sclera, Syndrome, Tunisia
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