Guymer Robyn H, McNeil Robyn, Cain Melinda, Tomlin Belinda, Allen Penelope J, Dip Chi Luu, Baird Paul N
Centre for Eye Research Australia, Department of Ophthalmology, University of Melbourne, East Melbourne, Victoria, Australia.
Clin Exp Ophthalmol. 2002 Dec;30(6):419-23. doi: 10.1046/j.1442-9071.2002.00572.x.
A single base change within the EFEMP1 gene has been associated with malattia leventinese and Doyne honeycomb retinal dystrophy, two dominantly inherited macular diseases with early onset drusen. The aim of this study was to determine whether the same disease allele was also associated with other forms of early onset drusen or familial cases of age-related macular degeneration.
Thirteen index cases of early onset drusen together with 15 other family members were examined. In addition, 54 familial cases of age-related macular degeneration were examined. Blood was taken for DNA analysis and screened for the Arg345Trp disease-associated allele of the EFEMP1 gene. Twenty-four cases of malattia leventinese or Doyne honeycomb retinal dystrophy were also screened as positive controls. Another 150 ethnicity- and age-matched individuals acted as controls.
The Arg345Trp disease-associated allele in the EFEMP1 gene was confirmed in individuals with malattia leventinese and Doyne honeycomb retinal dystrophy. However, involvement of this allele was not evident in either early onset drusen or familial age-related macular degeneration.
The Arg345Trp disease-associated allele of the EFEMP1 gene does not appear to be associated with cases of early onset drusen that fall outside the diagnosis of malattia leventinese or Doyne honeycomb retinal dystrophy, nor does it appear to play a role in familial age-related macular degeneration. These findings do not exclude the involvement of other alleles of the EFEMP1 gene in either phenotype. The genetic mechanisms involved in the heterogeneous group of early onset drusen remain to be elucidated but should lead to insights into the genetic causes of macular diseases.
EFEMP1基因内的单个碱基变化与莱文廷病和多伊内蜂窝状视网膜营养不良有关，这两种是显性遗传的黄斑疾病，早期出现玻璃膜疣。本研究的目的是确定相同的疾病等位基因是否也与其他形式的早期玻璃膜疣或年龄相关性黄斑变性的家族性病例有关。
对13例早期玻璃膜疣的索引病例以及另外15名家庭成员进行了检查。此外，对54例年龄相关性黄斑变性的家族性病例进行了检查。采集血液进行DNA分析，并筛查EFEMP1基因的Arg345Trp疾病相关等位基因。还对24例莱文廷病或多伊内蜂窝状视网膜营养不良病例进行了筛查作为阳性对照。另外150名种族和年龄匹配的个体作为对照。
在莱文廷病和多伊内蜂窝状视网膜营养不良患者中证实了EFEMP1基因的Arg345Trp疾病相关等位基因。然而，该等位基因在早期玻璃膜疣或家族性年龄相关性黄斑变性中均未明显涉及。
EFEMP1基因的Arg345Trp疾病相关等位基因似乎与莱文廷病或多伊内蜂窝状视网膜营养不良诊断之外的早期玻璃膜疣病例无关，也似乎在家族性年龄相关性黄斑变性中不起作用。这些发现不排除EFEMP1基因的其他等位基因参与这两种表型。早期玻璃膜疣异质性组所涉及的遗传机制仍有待阐明，但应能深入了解黄斑疾病的遗传原因。
