Shastry B S, Pendergast S D, Hartzer M K, Liu X, Trese M T
Eye Research Institute, Oakland University, Rochester, Mich, USA.
Arch Ophthalmol. 1997 May;115(5):651-5. doi: 10.1001/archopht.1997.01100150653015.
Retinopathy of prematurity (ROP) is a retinal vascular disease occurring in infants with short gestational age and low birth weight and can lead to retinal detachment (ROP stages 4 and 5). X-linked familial exudative vitreoretinopathy is phenotypically similar to ROP and has been associated with mutations in the Norrie disease (ND) gene in some cases.
To determine if similar mutations in the ND gene may play a role in the development of advanced ROP.
Clinical examination and molecular genetic analysis were performed on 16 children, including 2 dizygotic and 1 monozygotic twin pairs, and their parents from 13 families.
Sequencing of the amplified products revealed missense mutations (R121W and L108P) in the third exon of the ND gene in 4 patients. These mutations were not present in an unaffected premature twin, 2 children with regressed stage 3 ROP, the parents, or in 50 unrelated healthy control subjects.
These findings suggest that mutations in the ND gene may play a role in the development of severe ROP in premature infants.
早产儿视网膜病变（ROP）是一种发生于孕周短和低出生体重婴儿的视网膜血管疾病，可导致视网膜脱离（ROP 4期和5期）。X连锁家族性渗出性玻璃体视网膜病变在表型上与ROP相似，在某些情况下与诺里病（ND）基因突变有关。
确定ND基因的类似突变是否在晚期ROP的发生中起作用。
对来自13个家庭的16名儿童（包括2对双卵双胞胎和1对单卵双胞胎）及其父母进行了临床检查和分子遗传学分析。
扩增产物测序显示4例患者的ND基因第三外显子存在错义突变（R121W和L108P）。这些突变在未受影响的早产双胞胎、2例3期ROP消退的儿童及其父母中均未出现，在50名无关健康对照者中也未出现。
这些发现提示ND基因突变可能在早产儿严重ROP的发生中起作用。
