Congenital glaucoma with acquired peripheral circumferential iris degeneration.
PMID 23363883 | DOI 10.1016/j.jaapos.2012.09.011 · Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus · 2013 · View on PubMed ↗
Iris anomalies associated with congenital or early-childhood glaucoma include stable primary developmental abnormalities such as those associated with the Axenfeld-Rieger spectrum and aniridia. Secondary generalized iris atrophy from uncontrolled intraocular pressure is another potential iris finding in pediatric glaucoma. We document an unusual pattern of acquired peripheral circumferential iris degeneration in 2 unrelated children with otherwise-controlled congenital glaucoma. Genetic testing revealed a common homozygous CYP1B1 mutation in one (p.Gly61Glu) and a novel heterozygous FOXC1 deletion in the other (p.Tyr81_Pro95del).
Validated evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | CYP1B1 | “Genetic testing revealed a common homozygous CYP1B1 mutation in one (p.Gly61Glu) and a novel heterozygous FOXC1 deletion in the other (p.Tyr81_Pro95del).” | 0.98 | hgnc_dict_v1 |
| gene | FOXC1 | “Genetic testing revealed a common homozygous CYP1B1 mutation in one (p.Gly61Glu) and a novel heterozygous FOXC1 deletion in the other (p.Tyr81_Pro95del).” | 0.98 | hgnc_dict_v1 |
| phenotype | primary congenital glaucoma | “Congenital glaucoma with acquired peripheral circumferential iris degeneration.” | 0.93 | phenotype_alias_lexicon_v2 |
| variant | p.Gly61Glu | “Genetic testing revealed a common homozygous CYP1B1 mutation in one (p.Gly61Glu) and a novel heterozygous FOXC1 deletion in the other (p.Tyr81_Pro95del).” | 0.95 | hgvs_regex_v1 |