Liláková D, Hejcmanová D, Jüttnerová V, Rozsíval P
Ocní klinika FN, Hradec Králové.
Cesk Slov Oftalmol. 2002 May;58(3):176-9.
Aniridia is a congenital developmental anomaly of the eye that usually affects both eyes. The development of the iris, cornea, lens, angle, optic nerve and retina is disturbed. Aniridia is most often a hereditary disease with an autosomal dominant, rarely autosomal recessive inheritance, but sporadic cases are also possible. The vision function in aniridia has been observed to have a wide range from blindness to a normal visual acuity. The more serious cases where blindness occurs has been due not specifically to the aniridia but to associated conditions like cataract, glaucoma, foveal hypoplasia, corneal dystrophy, nystagmus. Aniridia could be associated with the mental retardation. Some of the sporadic cases develop Wilms' tumor, frequently as part of the WAGR syndrome (Wilms' tumor, aniridia, genitourinary abnormalities and mental retardation).
无虹膜症是一种先天性眼部发育异常疾病,通常累及双眼。虹膜、角膜、晶状体、房角、视神经和视网膜的发育均受到干扰。无虹膜症大多为常染色体显性遗传的遗传性疾病,很少为常染色体隐性遗传,也可能出现散发病例。无虹膜症患者的视力功能差异很大,从失明到正常视力都有。失明等较严重的情况并非无虹膜症本身所致,而是由白内障、青光眼、黄斑发育不全、角膜营养不良、眼球震颤等相关病症引起。无虹膜症可能与智力发育迟缓有关。一些散发病例还会发展为肾母细胞瘤,常作为WAGR综合征(肾母细胞瘤、无虹膜症、泌尿生殖系统异常和智力发育迟缓)的一部分。