Salabert D, Cochener B, Mage F, Colin J
Service Daviel (ophtalmologie), CHU Morvan, Brest.
J Fr Ophtalmol. 1994;17(11):646-56.
Computer-assisted corneal topography, allows the detection of early abnormalities, including abortive or subclinical forms of keratoconus. So, it is possible to identify affected individuals with variable degrees, in family members of patients with keratoconus, to draw pedigrees, and to specify the mode of inheritance.
Computer-assisted digital videophotokeratoscope was used to map the corneas of 106 family members of 30 patients with keratoconus.
Abnormalities observed included the inferior cornea markedly steeper than the superior cornea (I-S - 0.86 +/- 0.44 D) and a marked difference between the central corneal powers of the two eyes (delta PC = 0.72 +/- 0.22 D). However, there was no statistical difference with normal individuals for central corneal power.
Pedigree analysis in these families suggests, in 50% of them, an autosomal dominant mode of inheritance. However, it is impossible to conclude for the other families, because of an insufficient number of cases.
计算机辅助角膜地形图可检测早期异常,包括圆锥角膜的顿挫型或亚临床型。因此,有可能在圆锥角膜患者的家庭成员中识别出不同程度的患病个体,绘制家系图谱,并确定遗传方式。
使用计算机辅助数字视频角膜照相仪对30例圆锥角膜患者的106名家庭成员的角膜进行绘图。
观察到的异常包括下角膜明显比上角膜陡峭(I-S - 0.86 +/- 0.44 D)以及双眼中央角膜屈光力存在明显差异(δPC = 0.72 +/- 0.22 D)。然而,中央角膜屈光力与正常个体相比无统计学差异。
对这些家庭的家系分析表明,其中50%为常染色体显性遗传模式。然而,由于病例数量不足,无法对其他家庭得出结论。