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惠比特犬新型进行性视网膜萎缩的特征:一项临床、视网膜电图及繁育研究

Characterization of a novel form of progressive retinal atrophy in Whippet dogs: a clinical, electroretinographic, and breeding study.

作者信息

Somma André Tavares, Moreno Juan Carlos Duque, Sato Mario Teruo, Rodrigues Blanche Dreher, Bacellar-Galdino Marianna, Occelli Laurence Mireille, Petersen-Jones Simon Michael, Montiani-Ferreira Fabiano

机构信息

Veterinary Medicine Department, Comparative Ophthalmology Laboratory, Rua dos Funcionários, 1540, Curtiba, 80035-050, Brazil.

Universidade Federal do Parana, R. Padre Camargo, 280, Curtiba, 80060-240, Brazil.

出版信息

Vet Ophthalmol. 2017 Sep;20(5):450-459. doi: 10.1111/vop.12448. Epub 2016 Nov 29.

DOI:10.1111/vop.12448
PMID:27896899
Abstract

OBJECTIVE

To describe a form of progressive retinal atrophy (PRA) in Whippets including clinical, electroretinographic, optical coherence tomographic changes and pedigree analysis.

ANIMALS STUDIED

Client-owned Whippet dogs (n = 51) living in Brazil.

PROCEDURES

All animals were submitted for routine ophthalmic screening for presumed inherited ocular disease, which included the following: visual tests, such as obstacle course tests, in scotopic and photopic conditions, cotton ball test, dazzle reflex, ocular fundus evaluation by indirect ophthalmoscopy followed by fundus photography. Additionally, electroretinography (ERG) and optical coherence tomography (OCT) were performed in 24 and four dogs, respectively.

RESULTS

Sixteen dogs were diagnosed with PRA. Vision deficits in dim light were detected in dogs examined at a young age associated with nystagmus. Funduscopic changes included the development of multifocal retinal bullae from 6 months of age. Retinal thinning became apparent later, at which time the bullae were no longer detected. OCT examination of selected young dogs revealed that the retinal bullae were due to separation between photoreceptors and the retinal pigment epithelium, and of dogs with more advanced disease confirmed the development of retinal thinning. Electroretinography in young dogs revealed a negative ERG due to a lack of b-wave in both scotopic and photopic recordings. With progression, the ERG became unrecordable. Pedigree analysis suggested an autosomal recessive mode of inheritance.

CONCLUSION

The retinal dystrophy reported here in Whippet dogs has a unique phenotype of an initial lack of ERG b-wave, development of retinal bullae then a progressive generalized retinal degeneration.

摘要

目的

描述惠比特犬的一种进行性视网膜萎缩(PRA)形式,包括临床、视网膜电图、光学相干断层扫描变化及系谱分析。

研究动物

生活在巴西的客户拥有的惠比特犬(n = 51)。

方法

所有动物均接受常规眼科筛查,以确定是否患有遗传性眼病,包括以下检查:视觉测试,如在暗视和明视条件下的障碍路线测试、棉球测试、炫光反射,通过间接检眼镜进行眼底评估并随后进行眼底摄影。此外,分别对24只和4只犬进行了视网膜电图(ERG)和光学相干断层扫描(OCT)检查。

结果

16只犬被诊断为PRA。在幼年接受检查的犬中检测到暗光下视力缺陷,并伴有眼球震颤。眼底变化包括6月龄时出现多灶性视网膜大疱。视网膜变薄随后变得明显,此时大疱不再被检测到。对选定的幼犬进行OCT检查发现,视网膜大疱是由于光感受器与视网膜色素上皮之间的分离所致,而对病情更严重的犬进行检查则证实了视网膜变薄的发展。幼犬的视网膜电图显示,在暗视和明视记录中均缺乏b波,导致ERG呈阴性。随着病情进展,ERG变得无法记录。系谱分析提示为常染色体隐性遗传模式。

结论

本文报道的惠比特犬视网膜营养不良具有独特的表型,最初缺乏ERG b波,随后出现视网膜大疱,然后是进行性广泛性视网膜变性。

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