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[圆锥角膜与家族性角膜地形图异常]

[Keratoconus and familial topographic corneal anomalies].

作者信息

Salabert D, Cochener B, Mage F, Colin J

机构信息

Service Daviel (ophtalmologie), CHU Morvan, Brest.

出版信息

J Fr Ophtalmol. 1994;17(11):646-56.

PMID:7722223
Abstract

PURPOSE

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.

METHODS

Computer-assisted digital videophotokeratoscope was used to map the corneas of 106 family members of 30 patients with keratoconus.

RESULTS

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.

CONCLUSION

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.

摘要

目的

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。

方法

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。

结果

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。

结论

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。

相似文献

1
[Keratoconus and familial topographic corneal anomalies].[圆锥角膜与家族性角膜地形图异常]
J Fr Ophtalmol. 1994;17(11):646-56.
2
[Corneal topography of keratoconus].[圆锥角膜的角膜地形图]
Zhonghua Yan Ke Za Zhi. 1994 May;30(3):189-91.
3
Computer-assisted corneal topography in family members of patients with keratoconus.圆锥角膜患者家庭成员的计算机辅助角膜地形图分析
Arch Ophthalmol. 1990 Mar;108(3):365-71. doi: 10.1001/archopht.1990.01070050063032.
4
[Corneal topography of keratoconus].[圆锥角膜的角膜地形图]
Klin Oczna. 1997;99(1):21-4.
5
Computer-assisted corneal topography in keratoconus.圆锥角膜的计算机辅助角膜地形图
Refract Corneal Surg. 1989 Nov-Dec;5(6):400-8.
6
Vertical D: a novel topographic pattern in some keratoconus suspects.垂直D:圆锥角膜疑似患者中的一种新型地形图模式。
Ophthalmology. 2007 May;114(5):1020-6. doi: 10.1016/j.ophtha.2006.10.022. Epub 2007 Feb 8.
7
Topographic evaluation of relatives of patients with keratoconus.圆锥角膜患者亲属的地形学评估
Cornea. 2008 Sep;27(8):874-8. doi: 10.1097/ICO.0b013e31816f5edc.
8
[Autosomal dominant keratoconus as the chief ocular symptom in Lobstein osteogenesis imperfecta tarda].[常染色体显性圆锥角膜作为迟发性洛布斯坦成骨不全症的主要眼部症状]
Klin Monbl Augenheilkd. 1995 Apr;206(4):268-72. doi: 10.1055/s-2008-1035438.
9
Evaluation of corneal topography with Orbscan II in first-degree relatives of patients with keratoconus.圆锥角膜患者一级亲属角膜地形图的Orbscan II评估
Cornea. 2008 Jun;27(5):531-4. doi: 10.1097/ICO.0b013e318165d110.
10
Prevalence of Orbscan II corneal abnormalities in relatives of patients with keratoconus.圆锥角膜患者亲属中Orbscan II角膜异常的患病率。
Clin Exp Ophthalmol. 2008 Dec;36(9):824-30. doi: 10.1111/j.1442-9071.2009.01908.x.

引用本文的文献

1
Optical coherence tomography combined with videokeratography to differentiate mild keratoconus subtypes.光学相干断层扫描结合角膜地形图对轻度圆锥角膜亚型的鉴别。
J Refract Surg. 2014 Feb;30(2):80-7. doi: 10.3928/1081597X-20140120-02.
2
Genetic association of COL5A1 variants in keratoconus patients suggests a complex connection between corneal thinning and keratoconus.在圆锥角膜患者中,COL5A1 变体的遗传关联表明角膜变薄和圆锥角膜之间存在复杂的联系。
Invest Ophthalmol Vis Sci. 2013 Apr 12;54(4):2696-704. doi: 10.1167/iovs.13-11601.
3
Corneal topographic changes in healthy siblings of patients with keratoconus.
圆锥角膜患者健康同胞的角膜地形图变化
Int J Ophthalmol. 2010;3(1):73-5. doi: 10.3980/j.issn.2222-3959.2010.01.17. Epub 2010 Mar 18.