title: [Glaucoma in aniridia].
abstract: Aniridia consists in a congenital absence of the iris, with incidence varying from 1/64,000 to 1/96,000. This complex embryologic malformation involves the iris, trabecula, and cornea with limbal stem cell deficiency. Aniridia is a genetic haplo-insufficiency expression of the PAX6 gene located on chromosome 11p13. The associated clinical ocular signs could be congenital cataract, congenital glaucoma (the most common complication), keratopathy, ptosis, nystagmus, foveal aplasia, or microphthalmia. More than half of aniridic patients will develop glaucoma, so a regular complete tensional check-up is recommended. Central pachymetry is thicker than in the general population and overestimates ocular pressure if a corrective coefficient is not used. When glaucoma is diagnosed, medical or surgical treatment should be adapted to the child's age. In younger children, trabeculotomy is preferable to trabeculectomy in the first step if the cornea is clear enough. In older children or teenagers, a classical medical treatment must be initiated first, but surgical treatment will often be needed later. Trabeculectomy is the surgical procedure to choose for these older patients or can be combined with cataract surgery in adults. In severe glaucoma, after failure of trabeculectomy with or without mitomycin C, glaucoma surgery with drainage placement could be necessary to control ocular pressure and preserve vision. The outcome of glaucoma in aniridia is always severe and requires medical and surgical treatment adapted from infancy to adulthood.
authors.affiliation: Service d'Ophtalmologie Pédiatrique, Hôpital Robert Debré, APHP, 48 boulevard Serrurier, 75019 Paris, France.
authors.forename: D
authors.initials: D
authors.lastname: Brémond-Gignac
mesh_terms: D015783:Aniridia / Q000150:complications* / Q000196:embryology / Q000235:genetics; D005136:Eye Proteins / Q000235:genetics; D005901:Glaucoma / Q000150:complications* / Q000601:surgery*; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D000071841:PAX6 Transcription Factor; D051761:Paired Box Transcription Factors / Q000172:deficiency / Q000235:genetics; D012097:Repressor Proteins / Q000235:genetics
chemical_list: D005136:Eye Proteins; D018398:Homeodomain Proteins; D000071841:PAX6 Transcription Factor; C000605730:PAX6 protein, human; D051761:Paired Box Transcription Factors; D012097:Repressor Proteins