Claude S, Verdier R, Arnaud B, Schmitt-Bernard C-F
Antigone Ophtalmologie, Montpellier.
J Fr Ophtalmol. 2004 Sep;27(7):773-8. doi: 10.1016/s0181-5512(04)96212-2.
We statistically assessed the videokeratographic data obtained from families with keratoconus in order to determine reliable criteria for detecting keratoconus suspects.
Fourteen keratoconus patients from 12 families were enlisted. We investigated 55 relatives (110 eyes). Standard videokeratographic data were obtained by screening 30 individuals (60 eyes) with clinically normal eyes, with no history of ocular disorders, contact lens wear, or keratoconus individuals in their family. Videokeratographic qualitative and quantitative analyses were performed on every subject. The videokeratographic threshold values obtained from the control group were used as a reference.
Two criteria based on the Klyce/Maeda indices proved their statistical significance in detecting keratoconus suspects. When considering the significant criteria ascertained by the statistical analysis, building pedigrees favored the autosomal dominant mode of inheritance. Two of the pedigrees corresponded to either a recessive mode of transmission or the potential occurrence of a de novo mutation.
We have determined videokeratographic criteria of statistical significance for detecting keratoconus suspects. The knowledge of the status of each member of families with keratoconus is a prerequisite to performing genetic linkage analyses, which may allow a precise locus linked with this disorder to be refined.
我们对圆锥角膜患者家庭的角膜地形图数据进行了统计学评估，以确定检测圆锥角膜疑似病例的可靠标准。
招募了来自12个家庭的14名圆锥角膜患者。我们调查了55名亲属（110只眼）。通过对30名临床眼部正常、无眼部疾病史、无佩戴隐形眼镜史且家族中无圆锥角膜患者的个体（60只眼）进行筛查，获取标准角膜地形图数据。对每个受试者进行角膜地形图定性和定量分析。将对照组获得的角膜地形图阈值用作参考。
基于Klyce/Maeda指数的两个标准在检测圆锥角膜疑似病例方面具有统计学意义。在考虑经统计分析确定的显著标准时，构建系谱支持常染色体显性遗传模式。其中两个系谱对应隐性遗传模式或新发突变的可能性。
我们确定了检测圆锥角膜疑似病例具有统计学意义的角膜地形图标准。了解圆锥角膜患者家庭中每个成员的状况是进行基因连锁分析的前提条件，基因连锁分析可能有助于明确与该疾病相关的精确基因座。
