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Refractive errors in patients with Bardet Biedl syndrome.
Leyla Yavuz Saricay1, Grace Baldwin2, Eric A Moulton1,3
1Department of Ophthalmology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Ophthalmic Genetics
|July 2, 2024
Summary
Patients with Bardet-Biedl syndrome (BBS) show high rates of extreme corneal astigmatism. This suggests a link between primary ciliary dysfunction and corneal abnormalities in BBS patients.
Area of Science:
- Ophthalmology
- Genetics
- Ciliopathies
Background:
- Bardet-Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy.
- Primary cilia are crucial for corneal development.
- Understanding BBS's ocular manifestations is vital for patient care.
Purpose of the Study:
- To investigate the association between Bardet-Biedl syndrome and corneal astigmatism.
- To evaluate the prevalence and severity of corneal astigmatism in a cohort of BBS patients.
Main Methods:
- Retrospective, cross-sectional study of 45 genetically confirmed BBS patients (90 eyes).
- Data collected from February 2011 to August 2021.
- Analysis included spherical/cylindrical refractive errors and keratometry; extreme astigmatism defined as >3D.
Main Results:
- The mean age of patients was 16.4 years; mean visual acuity was 20/60.
- BBS1 was the most common genetic cause (53.3%).
- Mean corneal astigmatism was 3.7D, considered extreme, with a range of 0.5-7.1D.
Conclusions:
- Individuals with BBS exhibit a high prevalence of significant corneal astigmatism.
- Findings suggest a correlation between primary ciliary dysfunction in BBS and corneal astigmatism.
- Results may inform clinical management and identify therapeutic targets for BBS and other corneal conditions.
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