Sawada Mayu, Sato Miho, Hikoya Akiko, Wang Chunxia, Minoshima Shinsei, Azuma Noriyuki, Hotta Yoshihiro
Department of Ophthalmology, Hamamatsu University School of Medicine, Hamamatsu, Japan.
J AAPOS. 2011 Feb;15(1):104-6. doi: 10.1016/j.jaapos.2010.11.006.
Aniridia is an autosomal-dominant, panocular, congenital anomaly transmitted with high penetrance and largely caused by mutations in the PAX6 gene. Although Peters anomaly may also be caused by mutations in PAX6, there has not to our knowledge been a report of aniridia associated with lens displacement into the anterior chamber and lenticular-corneal attachment. We report a child with aniridia and Peters anomaly associated with a PAX6 gene mutation.
无虹膜症是一种常染色体显性、累及全眼的先天性异常,具有高外显率,主要由PAX6基因突变引起。虽然彼得斯异常也可能由PAX6基因突变导致,但据我们所知,尚无无虹膜症合并晶状体脱入前房及晶状体-角膜附着的相关报道。我们报告了1例患有无虹膜症及彼得斯异常且伴有PAX6基因突变的患儿。