[Glaucoma in PAX6-related congenital aniridia: A review of the literature].

J Fr Ophtalmol

Faculté Paris Cité, hôpital universitaire Necker-Enfants Malades, AP-HP, 149, rue de Sèvres, 75015 Paris, France; UMRS1138, centre de recherche des Cordeliers, équipe 17, Inserm, Sorbonne université, 15, rue de l'École-de-Médecine, 75006 Paris, France. Electronic address:

Published: October 2024

AI Article Synopsis

  • PAX6-related congenital aniridia is a genetic eye condition leading to absent or underdeveloped iris and fovea, potentially causing ocular hypertension and glaucoma, though the exact causes are still not fully understood.* -
  • New imaging techniques have revealed possible reasons for glaucoma in these patients, including trabecular dysfunction and angle closure, but accurate diagnosis can be complicated by factors like corneal opacity and significant nystagmus.* -
  • Glaucoma treatment mainly involves medication, and any surgical options must be carefully assessed to weigh potential risks against benefits, considering the unique challenges posed by congenital aniridia.*

Article Abstract

PAX6-related congenital aniridia is a genetic pan-ocular disease characterized by a partial or total absence of the iris and foveal hypoplasia. The mechanisms involved in the development of ocular hypertension and glaucoma in patients with congenital aniridia are still unknown. Many hypotheses have been proposed and the advent of new anterior segment imaging techniques has allowed the identification of various potential mechanisms: congenital trabecular dysfunction, progressive closure of the iridocorneal angle, postoperative ocular hypertension. The diagnosis must take into account the various obstacles to clinical examination (corneal opacity, obturating cataract, foveolar aplasia, significant nystagmus) and is often considered only upon detection of ocular hypertension. Glaucoma remains, along with limbal insufficiency, one of the major causes of blindness in congenital aniridia. The treatment of glaucoma in congenital aniridia is primarily medical. The benefit/risk ratio of a surgical intervention should always be thoroughly evaluated in order to not underestimate the postoperative complications associated with congenital aniridia.

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Source
http://dx.doi.org/10.1016/j.jfo.2024.104300DOI Listing

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