Abstract：
BACKGROUND: To describe different clinical presentations of a same NR2E3 recessive mutation in two families and within one family.
METHODS: Interventional family study.
RESULTS: Our first case was a one-year-old male child with high hyperopia and refractive accommodative esotropia. In retinal examination, peri-papillary sub-retinal fibrosis with a helicoid configuration was observed in both eyes. The parents and the only sibling had no pathologic findings in the eyes. The child showed to have severely reduced responses in both photopic and scotopic electroretinogram components. In the genetic investigation, a homozygous autosomal recessive mutation in the NR2E3 gene (IVS1-2A > C) was discovered in the affected child, while the other family members were heterozygous for this mutation. We followed up with the patient for 3 years and no new lesion developed during this period. The second case was a 13-year-old male child referred to the retina clinic for decreased vision in the right eye. In retina examination, there were nummular pigmentary changes at the level of retinal pigment epithelium and along the vascular arcades with foveo-schitic changes in both eyes. A choroidal neovascularization (CNV) was noticed in the macula of his right eye. The genetic evaluation proved the same mutation in the NR2E3 gene as in the first case. Family history was remarkable for an uncle, an aunt, and two cousins with night blindness.
CONCLUSIONS: Same NR2E3 gene mutation can cause heterogeneous clinical manifestations such as slight retinal changes in the absence of any visual symptoms to high hyperopia associated with helicoid peri-papillary sub-retinal fibrosis.
METHODS: Interventional family study.
RESULTS: Our first case was a one-year-old male child with high hyperopia and refractive accommodative esotropia. In retinal examination, peri-papillary sub-retinal fibrosis with a helicoid configuration was observed in both eyes. The parents and the only sibling had no pathologic findings in the eyes. The child showed to have severely reduced responses in both photopic and scotopic electroretinogram components. In the genetic investigation, a homozygous autosomal recessive mutation in the NR2E3 gene (IVS1-2A > C) was discovered in the affected child, while the other family members were heterozygous for this mutation. We followed up with the patient for 3 years and no new lesion developed during this period. The second case was a 13-year-old male child referred to the retina clinic for decreased vision in the right eye. In retina examination, there were nummular pigmentary changes at the level of retinal pigment epithelium and along the vascular arcades with foveo-schitic changes in both eyes. A choroidal neovascularization (CNV) was noticed in the macula of his right eye. The genetic evaluation proved the same mutation in the NR2E3 gene as in the first case. Family history was remarkable for an uncle, an aunt, and two cousins with night blindness.
CONCLUSIONS: Same NR2E3 gene mutation can cause heterogeneous clinical manifestations such as slight retinal changes in the absence of any visual symptoms to high hyperopia associated with helicoid peri-papillary sub-retinal fibrosis.
摘要：
背景：描述两个家族和一个家族中相同NR2E3隐性突变的不同临床表现。
方法：介入家庭研究。
结果：我们的第一个病例是1岁的男性儿童，患有高度远视和屈光调节性内斜视。在视网膜检查中，在两只眼睛中观察到具有螺旋面构型的乳头周围视网膜下纤维化。父母和唯一的兄弟姐妹的眼睛没有病理发现。该儿童在明视和暗视视网膜电图成分中的反应均严重降低。在基因调查中，在受影响的儿童中发现了NR2E3基因的纯合型常染色体隐性突变（IVS1-2A>C），而其他家族成员对这种突变是杂合的。我们对患者进行了3年的随访，在此期间没有出现新的病变。第二例是一名13岁的男性儿童，因右眼视力下降而转诊到视网膜诊所。在视网膜检查中，在视网膜色素上皮和沿血管拱廊的水平上有大量的色素变化，两只眼睛都有中央凹的变化。在他的右眼黄斑中发现脉络膜新生血管(CNV)。遗传评估证明NR2E3基因中的突变与第一种情况相同。家族史对一个叔叔来说很了不起，一位阿姨,还有两个有夜盲症的表亲.
结论：相同的NR2E3基因突变可引起异质性的临床表现，如在没有任何视觉症状的情况下轻微的视网膜改变，高度远视与视网膜下螺旋体周围乳头状纤维化相关。
方法：介入家庭研究。
结果：我们的第一个病例是1岁的男性儿童，患有高度远视和屈光调节性内斜视。在视网膜检查中，在两只眼睛中观察到具有螺旋面构型的乳头周围视网膜下纤维化。父母和唯一的兄弟姐妹的眼睛没有病理发现。该儿童在明视和暗视视网膜电图成分中的反应均严重降低。在基因调查中，在受影响的儿童中发现了NR2E3基因的纯合型常染色体隐性突变（IVS1-2A>C），而其他家族成员对这种突变是杂合的。我们对患者进行了3年的随访，在此期间没有出现新的病变。第二例是一名13岁的男性儿童，因右眼视力下降而转诊到视网膜诊所。在视网膜检查中，在视网膜色素上皮和沿血管拱廊的水平上有大量的色素变化，两只眼睛都有中央凹的变化。在他的右眼黄斑中发现脉络膜新生血管(CNV)。遗传评估证明NR2E3基因中的突变与第一种情况相同。家族史对一个叔叔来说很了不起，一位阿姨,还有两个有夜盲症的表亲.
结论：相同的NR2E3基因突变可引起异质性的临床表现，如在没有任何视觉症状的情况下轻微的视网膜改变，高度远视与视网膜下螺旋体周围乳头状纤维化相关。
