Delayed‐onset cord1 progressive retinal atrophy in English Springer Spaniels genetically affected with the <i>RPGRIP1</i> variant
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.
Authors
- Leonardo Murgiano (ORCID: https://orcid.org/0000-0002-3539-9344)
- Jessica K. Niggel (ORCID: https://orcid.org/0009-0004-2637-3507)
- Jennifer Kwok (ORCID: https://orcid.org/0000-0002-1995-0095)
- Keiko Miyadera (ORCID: https://orcid.org/0000-0002-9324-0155)
- Yu Sato (ORCID: https://orcid.org/0000-0002-5940-1349)
- Emma Ozdogan
Institutions
- University of Pennsylvania (US)
Publication Details
- Journal
- Veterinary Ophthalmology
- Published
- 2024-10-20
- DOI
- https://doi.org/10.1111/vop.13290
- Primary Topic
- Retinal Development and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- American Kennel Club Canine Health Foundation
- University of Pennsylvania
- University of Missouri
- National Institutes of Health