Abstract
Purpose: Here, we present two patients with congenital anterior staphyloma, with mutations in the CYP1B1 gene. Methods: We reviewed the medical records, including the genetic analysis. Results: Two unrelated patients presented with congenital anterior staphylomas. Both patients showed mutations in the CYP1B1 gene. The first patient, the product of a consanguineous marriage, showed a homozygous misssense mutation g.3987G>A (p.G61E). The second patient had compound heterozygous misssense mutations [g.4160 G>T (p.A119S) and g.8131 C>G (p.L432V)]. Conclusion: CYP1B1 gene mutation may be associated with congenital anterior staphylomas.
Original language | English (US) |
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Pages (from-to) | 445-448 |
Number of pages | 4 |
Journal | Clinical Ophthalmology |
Volume | 8 |
DOIs | |
State | Published - Feb 24 2014 |
Keywords
- Congenital aphakia
- Congenital glaucoma
- Consanguinity
- Mutation analysis
ASJC Scopus subject areas
- Ophthalmology