视神经发育不良(SOD)的特征是视神经发育不全,垂体腺发育不全,大脑的中线异常.SOD的表型具有高度异质性,并且至少两个特征的存在被认为足以进行诊断。中央凹是指中央凹没有中央凹,尽管是中央凹的发育异常,良好的视力可能会保留在一些人。在这种情况下,一名12岁女性主诉右眼视力模糊到眼科诊所就诊。在扩张眼底检查中,视盘发育不全,未见中央凹光反射。磁共振成像和光学相干断层扫描显示视神经,大脑中线,和中央凹异常。患者诊断为SOD伴视神经发育不全和透明隔发育不全,和中央凹平面。SOD和中央凹都是罕见的疾病,文献中有几篇报道分别描述了它们的临床特征。此病例报告的最重要方面是揭示了年轻患者中SOD和中央凹平面的异常共存。
Septo-optic dysplasia (SOD) is characterized by optic nerve hypoplasia, pituitary gland hypoplasia, and midline abnormalities of the brain. The phenotype of SOD is highly heterogeneous, and the existence of at least two features is considered sufficient for diagnosis. Fovea plana is the absence of a foveal pit in the central fovea, and despite being a developmental abnormality of the fovea, good visual acuity may be retained in some individuals. In this case, a 12-year-old female presented to the ophthalmology clinic with the complaint of blurred vision in her right eye. In dilated fundus examination, optic disc hypoplasia and no foveal light reflex were seen. Magnetic resonance imaging and optical coherence tomography revealed optic nerve, brain midline, and foveal abnormalities. The patient was diagnosed as having SOD with optic nerve hypoplasia and septum pellucidum agenesis, and fovea plana. Both SOD and fovea plana are rare conditions, and there are several reports in the literature that separately describe their clinical features. The most important aspect of this case report is to reveal the unusual co-existence of SOD and fovea plana in a young patient.