Congenital glaucoma with acquired peripheral circumferential iris degeneration.
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).
Division of Pediatric Ophthalmology, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia. arif.khan@mssm.edu
Arif O
AO
Khan
Mohammed A
MA
Aldahmesh
Jawahir Y
JY
Mohamed
Fowzan S
FS
Alkuraya
D000959:Antihypertensive Agents / Q000627:therapeutic use; D001189:Aryl Hydrocarbon Hydroxylases / Q000235:genetics; D065633:Cytochrome P-450 CYP1B1; D004359:Drug Therapy, Combination; D005124:Eye Abnormalities / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D005260:Female; D051858:Forkhead Transcription Factors / Q000235:genetics; D006801:Humans; D006871:Hydrophthalmos / Q000175:diagnosis / Q000188:drug therapy / Q000209:etiology*; D007223:Infant; D007429:Intraocular Pressure / Q000187:drug effects; D007498:Iris / Q000002:abnormalities*; D017354:Point Mutation; D017384:Sequence Deletion; D013449:Sulfonamides / Q000627:therapeutic use; D013876:Thiophenes / Q000627:therapeutic use; D013999:Timolol / Q000627:therapeutic use
D000959:Antihypertensive Agents; C112743:FOXC1 protein, human; D051858:Forkhead Transcription Factors; D013449:Sulfonamides; D013876:Thiophenes; D013999:Timolol; C062765:dorzolamide; D001189:Aryl Hydrocarbon Hydroxylases; C585496:CYP1B1 protein, human; D065633:Cytochrome P-450 CYP1B1