Delayed-onset cord1 progressive retinal atrophy in English Springer Spaniels genetically affected with the RPGRIP1 variant.
English Springer Spaniel
RPGRIP1
dog
electroretinography
optical coherence tomography
progressive retinal atrophy
Journal
Veterinary ophthalmology
ISSN: 1463-5224
Titre abrégé: Vet Ophthalmol
Pays: England
ID NLM: 100887377
Informations de publication
Date de publication:
20 Oct 2024
20 Oct 2024
Historique:
revised:
11
09
2024
received:
20
03
2024
accepted:
01
10
2024
medline:
21
10
2024
pubmed:
21
10
2024
entrez:
20
10
2024
Statut:
aheadofprint
Résumé
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. Over 4 years, 494 ESSs (123 affected) were enrolled. 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). 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. 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.
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : American Kennel Club Canine Health Foundation
ID : 02572-MOU
Organisme : National Eye Institute/NIH
ID : R01EY006855
Informations de copyright
© 2024 The Author(s). Veterinary Ophthalmology published by Wiley Periodicals LLC on behalf of American College of Veterinary Ophthalmologists.
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