一個十四歲的女孩因為從小視力不良而至眼科求診。兩眼的矯正後最佳視力皆為0.6。眼睛的前眼部皆為正常。眼底檢查發現兩眼的視神經盤較為蒼白。視野檢查呈現明顯視野缺損。腦部及眼窩核磁共振攝影發現腦部透明膈缺損及兩側的視神經發育不全。內分泌的檢查結果並無異常。
The syndrome of septo-optic dysplasia, named by de Morsier in 1956, consists of hypoplasia of the optic nerves and absence of the septum pellucidum. We report a case with optic nerve hypoplasia and absence of septum pellucidum. A 14-year-old girl was referred to our clinic because of poor visual acuity. Her best-corrected visual acuity was 0.6 in each eye. Color vision was normal. Results of external eye and anterior segment examination were unremarkable. Perimetry showed bilateral visual field defects, especially in the lower part of the visual fields. Ophthalmoscopic examination revealed bilateral pale optic discs. The results of visual evoked potentials suggested visual conduction abnormality on both sides. Magnetic resonance images showed absence of septum pellucidum, bilateral small optic nerves, with a pituitary stalk and gland of normal size. Endocrine studies revealed no evidence of pituitary insufficiency.