Sudden acquired retinal degeneration syndrome may be an acquired primary ciliopathy, phenotypically similar to human Alström and Bardet-Biedl syndromes
Sudden acquired retinal degeneration syndrome (SARDS) is an acquired canine disease that presents as rapidly progressive retinal degeneration, often accompanied by polyphagia, weight gain, polydipsia, polyuria, and hyposmia. Alström syndrome (AS) and Bardet-Biedl syndrome (BBS) are rare human autoso...
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Frontiers Media S.A.
2025-06-01
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| Series: | Frontiers in Veterinary Science |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fvets.2025.1611850/full |
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| author | Steven Toler Kenneth Abrams Daniel Ward |
| author_facet | Steven Toler Kenneth Abrams Daniel Ward |
| author_sort | Steven Toler |
| collection | DOAJ |
| description | Sudden acquired retinal degeneration syndrome (SARDS) is an acquired canine disease that presents as rapidly progressive retinal degeneration, often accompanied by polyphagia, weight gain, polydipsia, polyuria, and hyposmia. Alström syndrome (AS) and Bardet-Biedl syndrome (BBS) are rare human autosomal recessive genetic disorders marked by progressive retinopathy, polyphagia, obesity, polydipsia, polyuria, and hyposmia, with varying degrees of phenotypic severity. While the etiology of AS and BBS is partially understood, the cause of acquired SARDS remains elusive. Historically, scientific inquiry has focused on an immunologic insult and/or endocrinopathy as the cause of SARDS. Clinicians have often pointed to these Cushingoid symptoms mentioned above in SARDS patients as evidence of a contributing endocrinopathy. However, systemic cortisol concentrations, both pre- and post-ACTH stimulation, typically do not differ appreciably between normal patients and those with SARDS. Blindness due to photoreceptor degeneration, along with the observed Cushingoid symptoms, may result from dysfunctional or absent primary cilia, as documented in human AS and BBS cases. Recognizing SARDS as a possible acquired ciliopathy may be the first step toward seeking effective treatments. |
| format | Article |
| id | doaj-art-637c315217e343fda2bef8276fe8da1b |
| institution | OA Journals |
| issn | 2297-1769 |
| language | English |
| publishDate | 2025-06-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Veterinary Science |
| spelling | doaj-art-637c315217e343fda2bef8276fe8da1b2025-08-20T02:30:28ZengFrontiers Media S.A.Frontiers in Veterinary Science2297-17692025-06-011210.3389/fvets.2025.16118501611850Sudden acquired retinal degeneration syndrome may be an acquired primary ciliopathy, phenotypically similar to human Alström and Bardet-Biedl syndromesSteven Toler0Kenneth Abrams1Daniel Ward2ClinPharmTox, LLC, Houston, TX, United StatesVeterinary Ophthalmology Services, North Kingstown, RI, United StatesCollege of Veterinary Medicine, University of Tennessee, Knoxville, TN, United StatesSudden acquired retinal degeneration syndrome (SARDS) is an acquired canine disease that presents as rapidly progressive retinal degeneration, often accompanied by polyphagia, weight gain, polydipsia, polyuria, and hyposmia. Alström syndrome (AS) and Bardet-Biedl syndrome (BBS) are rare human autosomal recessive genetic disorders marked by progressive retinopathy, polyphagia, obesity, polydipsia, polyuria, and hyposmia, with varying degrees of phenotypic severity. While the etiology of AS and BBS is partially understood, the cause of acquired SARDS remains elusive. Historically, scientific inquiry has focused on an immunologic insult and/or endocrinopathy as the cause of SARDS. Clinicians have often pointed to these Cushingoid symptoms mentioned above in SARDS patients as evidence of a contributing endocrinopathy. However, systemic cortisol concentrations, both pre- and post-ACTH stimulation, typically do not differ appreciably between normal patients and those with SARDS. Blindness due to photoreceptor degeneration, along with the observed Cushingoid symptoms, may result from dysfunctional or absent primary cilia, as documented in human AS and BBS cases. Recognizing SARDS as a possible acquired ciliopathy may be the first step toward seeking effective treatments.https://www.frontiersin.org/articles/10.3389/fvets.2025.1611850/fullSARDSretinasystemic symptomsciliopathyvisioncanine |
| spellingShingle | Steven Toler Kenneth Abrams Daniel Ward Sudden acquired retinal degeneration syndrome may be an acquired primary ciliopathy, phenotypically similar to human Alström and Bardet-Biedl syndromes Frontiers in Veterinary Science SARDS retina systemic symptoms ciliopathy vision canine |
| title | Sudden acquired retinal degeneration syndrome may be an acquired primary ciliopathy, phenotypically similar to human Alström and Bardet-Biedl syndromes |
| title_full | Sudden acquired retinal degeneration syndrome may be an acquired primary ciliopathy, phenotypically similar to human Alström and Bardet-Biedl syndromes |
| title_fullStr | Sudden acquired retinal degeneration syndrome may be an acquired primary ciliopathy, phenotypically similar to human Alström and Bardet-Biedl syndromes |
| title_full_unstemmed | Sudden acquired retinal degeneration syndrome may be an acquired primary ciliopathy, phenotypically similar to human Alström and Bardet-Biedl syndromes |
| title_short | Sudden acquired retinal degeneration syndrome may be an acquired primary ciliopathy, phenotypically similar to human Alström and Bardet-Biedl syndromes |
| title_sort | sudden acquired retinal degeneration syndrome may be an acquired primary ciliopathy phenotypically similar to human alstrom and bardet biedl syndromes |
| topic | SARDS retina systemic symptoms ciliopathy vision canine |
| url | https://www.frontiersin.org/articles/10.3389/fvets.2025.1611850/full |
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