Feys J, Nodarian M, Aygalenq P, Cattan D, Bouccara A S, Beaumont C
Service d'ophtalmologie, CHI, Villeneuve Saint-Georges, 94190 France.
J Fr Ophtalmol. 2001 Oct;24(8):847-50.
Hereditary hyperferritinemia cataract is a recently described autosomal dominant syndrome, characterized by bilateral cataracts and elevated level of serum ferritin.
Three members of a family were investigated for cataract and hyperferritinemia. A 30-year-old woman had elevated serum ferritin levels and bilateral cataracts. She was treated for hemochromatosis, but serum iron and transferrin saturation were normal. Her two sons, nine and five years old, also had a high ferritin level and bilateral cataracts.
The ferritin level was 1200 micrograms/L in the woman's serum, and respectively, 974 and 965 micrograms/L in the two boys' serum. The mother had a visual acuity of 8/10 in the right eye and 5/10 in the left eye. The cataract comprised fine crystalline cortical opacities, extending axially. The two sons had 7 to 8/10 in both eyes. No other ophthalmic abnormality was noted. These patients were heterozygous for a 16 bp deletion on the L-ferritin gene.
Ferritin is an iron storage ubiquitous protein present in every cell. In hyperferritinemia cataract syndrome, serum iron and transferrin saturation are normal, and the elevated serum ferritin level is the consequence of an autosomal dominant disorder. The cataract is made up of the accumulation of small opacities disposed radially and more numerous on the outside edges, with relatively good visual acuity. The size of the cataract seems to be correlated to the serum ferritin level. In hemochromatosis, hyperferritinemia is related to increased iron stores and is not associated with cataracts.
遗传性高铁蛋白血症性白内障是一种最近描述的常染色体显性综合征，其特征为双侧白内障和血清铁蛋白水平升高。
对一个家族的三名成员进行了白内障和高铁蛋白血症调查。一名30岁女性血清铁蛋白水平升高且患有双侧白内障。她接受了血色素沉着症治疗，但血清铁和转铁蛋白饱和度正常。她的两个儿子，分别为9岁和5岁，也有高铁蛋白水平和双侧白内障。
该女性血清中铁蛋白水平为1200微克/升，两个男孩血清中铁蛋白水平分别为974微克/升和965微克/升。母亲右眼视力为8/10，左眼视力为5/10。白内障包括细小的晶状体皮质混浊，沿轴向延伸。两个儿子双眼视力均为7至8/10。未发现其他眼科异常。这些患者在L-铁蛋白基因上存在16 bp缺失的杂合子。
铁蛋白是一种存在于每个细胞中的普遍存在的铁储存蛋白。在高铁蛋白血症性白内障综合征中，血清铁和转铁蛋白饱和度正常，血清铁蛋白水平升高是常染色体显性疾病的结果。白内障由呈放射状排列且在外缘较多的小混浊物积聚组成，视力相对较好。白内障的大小似乎与血清铁蛋白水平相关。在血色素沉着症中，高铁蛋白血症与铁储存增加有关，且与白内障无关。
