Mutations of the CYP1B1 gene in congenital anterior staphylomas

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 t...

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Detalles Bibliográficos
Autores principales: Al Judaibi, Ramzi, Abu-Amero, Khaled K, Morales, Jose, Al Shahwan, Sami, Edward, Deepak P
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove Medical Press 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3938497/
https://www.ncbi.nlm.nih.gov/pubmed/24591815
http://dx.doi.org/10.2147/OPTH.S53200
Descripción
Sumario: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.

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