CYP1B1 analysis of unilateral primary newborn glaucoma in Saudi children.
J AAPOS
; 16(6): 571-2, 2012 Dec.
Article
en En
| MEDLINE
| ID: mdl-23158549
ABSTRACT
Nonsyndromic primary newborn glaucoma, the most severe form of primary congenital glaucoma, typically is bilateral and often the result of CYP1B1 mutations, particularly in certain consanguineous populations. Truly unilateral cases are uncommon and genetically not well studied. During a 9-year period, we tested 5 consecutive children with unilateral primary newborn glaucoma from Saudi Arabia, where CYP1B1 mutations are the cause for 91% of bilateral primary newborn glaucoma cases. None of these children with unilateral primary newborn glaucoma harbored CYP1B1 mutations, suggesting that in this population the pathogenesis of unilateral disease differs from that of bilateral disease.
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Hidrocarburo de Aril Hidroxilasas
/
Hidroftalmía
Tipo de estudio:
Diagnostic_studies
Límite:
Child
/
Child, preschool
/
Female
/
Humans
/
Male
País como asunto:
Asia
Idioma:
En
Año:
2012
Tipo del documento:
Article