Mellersh Cathryn S
Animal Health Trust, Lanwades Park, Kentford, Suffolk CB8 7UU UK.
Canine Genet Epidemiol. 2014 Apr 16;1:3. doi: 10.1186/2052-6687-1-3. eCollection 2014.
Inherited forms of eye disease are arguably the best described and best characterized of all inherited diseases in the dog, at both the clinical and molecular level and at the time of writing 29 different mutations have been documented in the scientific literature that are associated with an inherited ocular disorder in the dog. The dog has already played an important role in the identification of genes that are important for ocular development and function as well as emerging therapies for inherited blindness in humans. Similarities in disease phenotype and eye structure and function between dog and man, together with the increasingly sophisticated genetic tools that are available for the dog, mean that the dog is likely to play an ever increasing role in both our understanding of the normal functioning of the eye and in our ability to treat inherited eye disorders. This review summarises the mutations that have been associated with inherited eye disorders in the dog.
在犬类中,遗传性眼病在临床和分子层面上,可以说是所有遗传性疾病中描述得最为详尽、特征最为明确的。截至撰写本文时,科学文献中已记录了29种不同的突变,这些突变与犬类的遗传性眼部疾病相关。犬类在鉴定对眼部发育和功能至关重要的基因以及人类遗传性失明的新兴治疗方法方面已经发挥了重要作用。犬类与人类在疾病表型、眼睛结构和功能上的相似性,以及犬类可用的日益复杂的遗传工具,意味着犬类在我们对眼睛正常功能的理解以及治疗遗传性眼病的能力方面可能会发挥越来越重要的作用。本综述总结了与犬类遗传性眼病相关的突变。