Bastelica P, Daruich A, Paganelli B, Robert M, Labbé A, Baudouin C, Bremond-Gignac D
Service 3, hôpital national de la vision des Quinze-Vingts, IHU FOReSIGHT, 28, rue de Charenton, 75012 Paris, France; Institut de la vision, IHU FOReSIGHT, Sorbonne université, 17, rue Moreau, 75012 Paris, France.
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.
J Fr Ophtalmol. 2025 Jan;48(1):104300. doi: 10.1016/j.jfo.2024.104300. Epub 2024 Oct 4.
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.
与PAX6相关的先天性无虹膜是一种遗传性全眼病,其特征为部分或完全没有虹膜以及黄斑发育不全。先天性无虹膜患者发生高眼压和青光眼的发病机制仍不清楚。已经提出了许多假说,新的眼前段成像技术的出现使得能够识别各种潜在机制:先天性小梁功能障碍、虹膜角膜角渐进性关闭、术后高眼压。诊断必须考虑到临床检查的各种障碍(角膜混浊、致密性白内障、黄斑发育不全、显著眼球震颤),并且通常仅在检测到高眼压时才予以考虑。青光眼与角膜缘功能不全一样,仍然是先天性无虹膜失明的主要原因之一。先天性无虹膜青光眼的治疗主要是药物治疗。为了不低估与先天性无虹膜相关的术后并发症,手术干预的获益/风险比应始终进行全面评估。