Delayed-onset cord1 progressive retinal atrophy in English Springer Spaniels genetically affected with the RPGRIP1 variant.

IF 1.7 4区 农林科学 Q2 VETERINARY SCIENCES
Jennifer C Kwok, Yu Sato, Jessica K Niggel, Emma Ozdogan, Leonardo Murgiano, Keiko Miyadera
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Abstract

Objective: Cone-rod dystrophy (cord1) is a form of progressive retinal atrophy. It is linked to an RPGRIP1 genetic variant which is the third most common canine disease variant thus far. While the variant affects various breeds, it is highly prevalent in English Springer Spaniels (ESSs). Yet its clinical and pathological implications remain equivocal. Herein, we study the retinal phenotype in ESSs genetically affected with the RPGRIP1 variant.

Animal studied: Over 4 years, 494 ESSs (123 affected) were enrolled.

Procedure(s): Owner-perceived vision was collected via a questionnaire. Ophthalmic examination included fundus photography. In selected ESSs, retinal function and structure were assessed using electroretinography (ERG, 148 dogs) and optical coherence tomography (OCT, 4 dogs).

Results: Ophthalmoscopic changes included peripheral hypo-reflective lesions often with distinct borders progressing centripetally culminating in generalized retinal atrophy. Cross-sectional study revealed declining photopic ERG amplitudes with age in the affected group but not in controls. OCT indicated progressive photoreceptor loss. Despite ophthalmoscopic, ERG, or OCT abnormalities, most affected dogs were not visually impaired per their owners. In a fraction of afflicted ESSs, vision/globe-threatening complications were documented including cataracts, lens luxation, and glaucoma.

Conclusions: In ESSs, the RPGRIP1 variant is associated with insidious pathology with delayed-onset visual defects. The subtle phenotype without apparent visual deficit until the final years of life, if at all, may have caused underdiagnosis of cord1. Still, DNA testing remains informative, and ERG and OCT indicate progressive pathology. Peripheral fundus examination and photopic ERG are particularly useful for early detection and monitoring of cord1.

受 RPGRIP1 变异基因影响的英国史宾格犬出现迟发性 cord1 进行性视网膜萎缩。
目的:圆锥杆状营养不良症(cord1)是一种进行性视网膜萎缩。它与 RPGRIP1 基因变异有关,而 RPGRIP1 是迄今为止第三大最常见的犬科疾病变异。虽然这种变异会影响不同的犬种,但它在英国史宾格犬(ESS)中的发病率很高。然而,它的临床和病理影响仍不明确。在此,我们研究了受 RPGRIP1 变异基因影响的ESS 的视网膜表型:在 4 年的时间里,共招募了 494 只ESS(123 只受影响):通过问卷调查收集动物主人的视力。眼科检查包括眼底照相。在选定的ESS中,使用视网膜电图(ERG,148只狗)和光学相干断层扫描(OCT,4只狗)评估视网膜功能和结构:结果:眼科视网膜病变包括外周低反射病变,通常边界清晰,向心性发展,最终导致视网膜普遍萎缩。横断面研究显示,患病组的光视ERG振幅随年龄增长而下降,对照组则没有。光学视网膜断层扫描(OCT)显示,患者的感光细胞逐渐丧失。尽管眼科视网膜镜、ERG 或 OCT 出现异常,但大多数患犬的主人都认为它们没有视力障碍。在一小部分患病的ESS犬中,出现了威胁视力/眼球的并发症,包括白内障、晶状体缺损和青光眼:结论:在ESSs中,RPGRIP1变体与隐匿性病理相关,并伴有迟发性视觉缺陷。如果直到生命的最后几年才出现明显的视力缺陷,这种微妙的表型可能会导致cord1的漏诊。尽管如此,DNA 检测仍然具有参考价值,ERG 和 OCT 显示病变呈进行性发展。外周眼底检查和光镜 ERG 对早期发现和监测 cord1 特别有用。
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来源期刊
Veterinary ophthalmology
Veterinary ophthalmology 农林科学-兽医学
CiteScore
2.70
自引率
37.50%
发文量
82
审稿时长
12-24 weeks
期刊介绍: Veterinary Ophthalmology is a peer-reviewed, international journal that welcomes submission of manuscripts directed towards academic researchers of veterinary ophthalmology, specialists and general practitioners with a strong ophthalmology interest. Articles include those relating to all aspects of: Clinical and investigational veterinary and comparative ophthalmology; Prospective and retrospective studies or reviews of naturally occurring ocular disease in veterinary species; Experimental models of both animal and human ocular disease in veterinary species; Anatomic studies of the animal eye; Physiological studies of the animal eye; Pharmacological studies of the animal eye.
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