CYP1B1 analysis of unilateral primary newborn glaucoma in Saudi children.
PMID 23158549 | DOI 10.1016/j.jaapos.2012.07.007 · Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus · 2012 · View on PubMed ↗
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.
Validated evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | CYP1B1 | “CYP1B1 analysis of unilateral primary newborn glaucoma in Saudi children.” | 0.98 | hgnc_dict_v1 |
| phenotype | primary congenital glaucoma | “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.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “CYP1B1 analysis of unilateral primary newborn glaucoma in Saudi children. 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. 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.” | 0.95 | saudi_context_rules_v1 |