Payen G, Hänninen R L, Mazzucchelli S, Forman O P, Mellersh C S, Savoldelli M, Chahory S
Unité d'Ophtalmologie, Ecole Nationale Vétérinaire d'Alfort, Université Paris-Est, Maisons-Alfort Cedex, France.
J Small Anim Pract. 2011 Aug;52(8):402-10. doi: 10.1111/j.1748-5827.2011.01081.x.
To describe bilateral lens instability in 10 related domestic shorthair cats over three generations.
Complete ophthalmic examinations were performed. Lentectomies were carried out. Sections of affected lenses focused on the equatorial area were examined by transmission electron microscopy. The potential involvement of several candidate genes (ADAMTS17, ADAMTSL4, ADAMTS10 and FBN1) known to be associated with lens luxation in other species was investigated.
The group of animals included 10 related cats, nine of them being affected by lens instability over three generations. Transmission electron microscopy showed the presence of zonular material at the lens equator. Signs of lens instability were not associated with other ocular disease. Analysis of the pedigree suggests a dominantly inherited condition. A mutation in ADAMTS17 was excluded, but a possible association between the condition and a microsatellite flanking FBN1 indicates this gene should be considered a strong candidate responsible for primary lens luxation in this pedigree.
These observations suggest an inherent zonular defect unrelated to extraneous factors. The family relationship is compatible with a possible genetic basis, and the pedigree suggests that the condition could be dominant. Data also suggest the mutation in the FBN1 gene could be responsible for primary lens luxation in this pedigree of cats.
描述三代内10只相关家养短毛猫的双侧晶状体不稳定情况。
进行了全面的眼科检查。实施了晶状体切除术。对受影响晶状体赤道区域的切片进行透射电子显微镜检查。研究了已知与其他物种晶状体脱位相关的几个候选基因（ADAMTS17、ADAMTSL4、ADAMTS10和FBN1）的潜在参与情况。
该动物群体包括10只相关猫，其中9只在三代内受晶状体不稳定影响。透射电子显微镜显示在晶状体赤道处存在小带物质。晶状体不稳定的体征与其他眼部疾病无关。系谱分析表明为显性遗传疾病。排除了ADAMTS17的突变，但该疾病与FBN1侧翼微卫星之间的可能关联表明，该基因应被视为该系谱中原发性晶状体脱位的有力候选基因。
这些观察结果提示存在与外部因素无关的先天性小带缺陷。家族关系符合可能的遗传基础，系谱表明该疾病可能为显性。数据还表明，FBN1基因的突变可能是该猫系谱中原发性晶状体脱位的原因。
