由于一种新的PAX2突变导致的乳头肾综合征中，双侧视神经畸形引起的双侧黄斑脱离。
Bilateral macular detachment caused by bilateral optic nerve malformation in a papillorenal syndrome due to a new PAX2 mutation.
作者信息
Samimi S, Antignac C, Combe C, Lacombe D, Renaud Rougier M-B, Korobelnik J-F
机构信息
Department of Ophthalmology, Pellegrin Hospital, Bordeaux, France.
出版信息
Eur J Ophthalmol. 2008 Jul-Aug;18(4):656-8. doi: 10.1177/112067210801800430.
PURPOSE
Papillorenal syndrome is an autosomal dominant entity due to PAX2 gene mutation, involving optic nerve and renal malformations.
METHODS
The authors report a 19-year-old man with bilateral macular detachment associated with optic nerve pit in one eye and morning glory syndrome in the other eye. The patient underwent three-port pars plana vitrectomy, endolaser photocoagulation, and C3F8 gas tamponade in his best eye. A medical history of vesicoureteric reflux and kidney hypoplasia led to genetic analysis.
RESULTS
Molecular genetic PAX2 analysis revealed a novel nondescribed mutation in exon 3. One year postoperatively, ophthalmologic outcomes were satisfactory with complete flattening of the retina and improvement of the best-corrected visual acuity to 11/10.
CONCLUSIONS
PAX2 is involved in the optic vesicles, genital tracts, kidney, and central nervous system embryogenic development. The association of optic nerve and renal malformations should lead to the suspicion of papillorenal syndrome with PAX2 mutation.
目的
乳头肾综合征是一种由于PAX2基因突变引起的常染色体显性遗传病，累及视神经和肾脏畸形。
方法
作者报告了一名19岁男性，双眼黄斑脱离，一只眼伴有视神经凹陷，另一只眼患有牵牛花综合征。患者在视力较好的眼睛接受了三通道平坦部玻璃体切除术、眼内激光光凝和C3F8气体填塞。膀胱输尿管反流和肾发育不全的病史促使进行基因分析。
结果
PAX2分子遗传学分析显示外显子3中有一个未描述的新突变。术后一年，眼科结果令人满意，视网膜完全平复，最佳矫正视力提高到11/10。
结论
PAX2参与视泡、生殖道、肾脏和中枢神经系统的胚胎发育。视神经和肾脏畸形的关联应引起对PAX2基因突变导致的乳头肾综合征的怀疑。
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