Nasr Mayssa B, Symeonidis Chrysanthos, Mikropoulos Dimitrios G, Kozeis Nikos, Tsinopoulos Ioannis, Dimitrakos Stavros A, Konstas Anastasios G P
Glaucoma Unit, 1st University Department of Ophthalmology, AHEPA Hospital, Thessaloniki, Greecee.
Eur J Ophthalmol. 2011 Sep-Oct;21(5):674-6. doi: 10.5301/EJO.2011.6519.
Abetalipoproteinemia is a very rare disease with multisystemic manifestations.
Retrospective, case report.
We report a 9-year-old girl with a history of Bassen-Kornzweig syndrome diagnosed at the age of 3. The patient was referred to us by the pediatricians for ocular assessment. During the examination, an atypical pigmentary retinopathy and bilateral swelling of the optic discs were observed, with no consequences to her visual acuity.
Ophthalmic manifestations in Bassen-Kornzweig syndrome are not uncommon. We describe, for the first time, bilateral swelling of the optic discs, a sign that appears directly associated with abetalipoproteinemia.
无β脂蛋白血症是一种具有多系统表现的极为罕见的疾病。
回顾性病例报告。
我们报告一名9岁女孩，3岁时被诊断为巴森-科尔兹韦格综合征。儿科医生将该患者转介给我们进行眼部评估。检查期间，观察到非典型色素性视网膜病变和双侧视盘肿胀，但其视力未受影响。
巴森-科尔兹韦格综合征的眼部表现并不罕见。我们首次描述了双侧视盘肿胀，这一体征似乎与无β脂蛋白血症直接相关。
