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Keratoconus associated with Williams-Beuren syndrome: first case reports
Loic Pinsard1, David Touboul, Yen Vu
1Ophthalmology Department, Keratoconus National Reference Center (CNRK), Bordeaux Hospital, Bordeaux University. loic.pinsard@hotmail.fr
Ophthalmic Genetics
|November 12, 2010
Summary
This study reports the first known cases of Williams-Beuren syndrome (WBS) co-occurring with keratoconus (KC). Further research is needed to explore a potential genetic link between these rare conditions.
Area of Science:
- Genetics
- Ophthalmology
- Developmental Biology
Background:
- Williams-Beuren syndrome (WBS) is a genetic disorder caused by a microdeletion on chromosome 7q11.23, affecting multiple systems.
- Keratoconus (KC) is a progressive eye condition suspected to have a genetic basis, though the specific gene remains unidentified.
Observation:
- This report details two unique cases of patients presenting with comorbid WBS and KC.
- Investigations included family history, fluorescence in-situ hybridization (FISH) for WBS confirmation, and corneal histology.
Findings:
- The co-occurrence of WBS and KC is exceptionally rare, with no prior reports in medical literature.
- Initial histological analysis of corneal tissue did not reveal elastin abnormalities, suggesting other genetic factors may be involved.
Implications:
- These findings suggest a potential, previously unreported, genetic or physiopathological link between WBS and KC.
- Further cytogenetic and histological studies are warranted to elucidate the nature of this association.
