Casse G, Magy L, Vallat J-M, Adenis J-P, Robert P-Y
Service d'ophtalmologie, hôpital Dupuytren, CHU de Limoges, 2, avenue Martin-Luther-King, 87042 Limoges cedex, France.
J Fr Ophtalmol. 2010 Nov;33(9):655.e1-9. doi: 10.1016/j.jfo.2010.07.009. Epub 2010 Sep 16.
Albers-Schönberg's disease is a rare disease (one case in 100,000 inhabitants), asymptomatic in the majority of cases. It belongs to the four clearly individualized forms of human osteopetrosis and has an autosomal dominant transmission. It induces generalized osteosclerosis, and most symptoms result from complications such as fractures following mild injury, compression of cranial nerves, especially the optic nerve, by stenosis of extracranial ostia, but also osteomyelitis of the lower maxilla. The treatment of Albers-Schönberg's disease is disappointing and only symptomatic, although the responsible genetic anomaly was recently identified. We report here the case of a 54-year-old woman, whose diagnosis of the disease has been known since adolescence, who presented with unilateral loss of vision and perimetric deficit due to papilla edema resulting from stenosis of the optic canal and benign intracranial hypertension.
阿尔伯斯-尚伯格病是一种罕见疾病（每10万居民中有1例），大多数病例无症状。它属于人类骨质石化的四种明显个体化形式之一，呈常染色体显性遗传。它会导致全身性骨硬化，大多数症状是由轻度损伤后的骨折、颅外孔狭窄对颅神经尤其是视神经的压迫以及下颌骨骨髓炎等并发症引起的。尽管最近已确定了相关的基因异常，但阿尔伯斯-尚伯格病的治疗效果令人失望，且仅为对症治疗。我们在此报告一例54岁女性病例，该患者自青春期起就被诊断出患有此病，此次因视神经管狭窄和良性颅内高压导致视乳头水肿，出现了单眼视力丧失和视野缺损。
