Progressive retinal atrophy in cats
Progressive Retinal Atrophy (PRA) is an umbrella term used to describe a variety of inherited retinopathies observed in multiple species. This literature study focuses on PRA observed in five different cat breeds: Abyssinian, Siamese, Persian, Bengal and African black-footed cat. Various reports hav...
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| Formato: | M2 |
| Lenguaje: | Inglés sueco |
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SLU/Dept. of Animal Breeding and Genetics (until 231231)
2019
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| Materias: |
| _version_ | 1855572411086274560 |
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| author | Wolf, Aida |
| author_browse | Wolf, Aida |
| author_facet | Wolf, Aida |
| author_sort | Wolf, Aida |
| collection | Epsilon Archive for Student Projects |
| description | Progressive Retinal Atrophy (PRA) is an umbrella term used to describe a variety of inherited retinopathies observed in multiple species. This literature study focuses on PRA observed in five different cat breeds: Abyssinian, Siamese, Persian, Bengal and African black-footed cat. Various reports have described the mode of inheritance, age of onset, clinical and histological findings and specific genetic mutations seen in these breeds. The similarities and differences of these characteristics among these breeds are discussed.
At least four different types of PRA have been identified in these cats: rdAc (late-onset, recessively inherited rod-cone degeneration caused by a mutation in the CEP290 gene), rdy (early-onset, dominantly inherited rod-cone dystrophy, caused by a mutation in the CRX gene), an early-onset recessively inherited rod-cone degeneration caused by one of two different genetic mutations (either an AIPL1 gene mutation or an IQCB1 gene mutation) and an early-onset recessively inherited rod-cone degeneration with unknown genetic mutation.
The Abyssinian is afflicted with both rdAc and rdy. The Siamese is afflicted with one of the same mutations as the Abyssinian, rdAc. The Persian and the African black-footed cat seem to share a clinically identical early-onset recessively inherited rod-cone degeneration; however, they are caused by different genetic mutations. The Persian cat has a mutation in the AIPL1 gene and the African black-footed cat has a mutation in the IQCB1 gene. The early-onset recessively inherited rod-cone degeneration of the Bengal appears to be distinct from rdAc, rdy and the Persian (AIPL1 gene mutation). It is still unknown if the Bengal has the same mutation as the African black-footed cat.
The clinical signs and histopathology of PRA among these breeds are very similar. Hyperreflectivity and retinal vessel attenuation are seen clinically in all affected cats, whilst thinning of the outer nuclear layer and outer plexiform layer and degeneration of the photoreceptor layer are usually seen histologically in those affected.
These genetic mutations appear to be the same mutations observed in Leber’s congenital amaurosis (LCA) in humans. This opens up the possibility of using PRA affected cats as animal models of LCA in humans.
Accurately diagnosing PRA in these breeds is important to prevent the disease via selective breeding and to enhance the quality of life for those afflicted. |
| format | M2 |
| id | RepoSLU14454 |
| institution | Swedish University of Agricultural Sciences |
| language | Inglés swe |
| publishDate | 2019 |
| publishDateSort | 2019 |
| publisher | SLU/Dept. of Animal Breeding and Genetics (until 231231) |
| publisherStr | SLU/Dept. of Animal Breeding and Genetics (until 231231) |
| record_format | eprints |
| spelling | RepoSLU144542019-05-11T01:01:43Z Progressive retinal atrophy in cats Progressiv retinal atrofi hos katter Wolf, Aida Progressive retinal atrophy retinal degeneration cat feline Progressive Retinal Atrophy (PRA) is an umbrella term used to describe a variety of inherited retinopathies observed in multiple species. This literature study focuses on PRA observed in five different cat breeds: Abyssinian, Siamese, Persian, Bengal and African black-footed cat. Various reports have described the mode of inheritance, age of onset, clinical and histological findings and specific genetic mutations seen in these breeds. The similarities and differences of these characteristics among these breeds are discussed. At least four different types of PRA have been identified in these cats: rdAc (late-onset, recessively inherited rod-cone degeneration caused by a mutation in the CEP290 gene), rdy (early-onset, dominantly inherited rod-cone dystrophy, caused by a mutation in the CRX gene), an early-onset recessively inherited rod-cone degeneration caused by one of two different genetic mutations (either an AIPL1 gene mutation or an IQCB1 gene mutation) and an early-onset recessively inherited rod-cone degeneration with unknown genetic mutation. The Abyssinian is afflicted with both rdAc and rdy. The Siamese is afflicted with one of the same mutations as the Abyssinian, rdAc. The Persian and the African black-footed cat seem to share a clinically identical early-onset recessively inherited rod-cone degeneration; however, they are caused by different genetic mutations. The Persian cat has a mutation in the AIPL1 gene and the African black-footed cat has a mutation in the IQCB1 gene. The early-onset recessively inherited rod-cone degeneration of the Bengal appears to be distinct from rdAc, rdy and the Persian (AIPL1 gene mutation). It is still unknown if the Bengal has the same mutation as the African black-footed cat. The clinical signs and histopathology of PRA among these breeds are very similar. Hyperreflectivity and retinal vessel attenuation are seen clinically in all affected cats, whilst thinning of the outer nuclear layer and outer plexiform layer and degeneration of the photoreceptor layer are usually seen histologically in those affected. These genetic mutations appear to be the same mutations observed in Leber’s congenital amaurosis (LCA) in humans. This opens up the possibility of using PRA affected cats as animal models of LCA in humans. Accurately diagnosing PRA in these breeds is important to prevent the disease via selective breeding and to enhance the quality of life for those afflicted. Progressiv retinal atrofi (PRA), även kallad fortskridande näthinneförtvining, är ett samlingsbegrepp för att beskriva olika ärftliga ögonsjukdomar som påverkar näthinnan hos vissa arter och kan eventuellt leda till blindhet. Den här litteraturstudien fokuserar på PRA hos fem olika kattraser: abessinier, siames, perser, bengal och afrikansk svartfotad katt. Olika studier har beskrivit syndromets nedärvningsmönster, ålder vid sjukdomsdebut, kliniska och histologiska iakttagelser samt specifika genmutationer observerade hos raserna drabbade av PRA. Likheter och skillnader mellan dessa raser diskuteras i det här arbetet. Det finns minst fyra olika typer av PRA som har identifierats hos de sex drabbade raserna. Den första är rdAc. Debuteringsåldern hos rdAc är senare jämfört med övriga typer av PRA. rdAc nedärvs via ett recessivt anlag, orsakar stav-tappdegeneration och är orsakad av en mutation i CEP290-genen. Den andra är rdy vilket har tidig debuteringsålder, nedärvs via ett dominant anlag, orsakar stav-tappdystrofi och är föranledd av en mutation i CRX-genen. Den tredje PRA har tidig debuteringsålder, nedärvs via ett recessivt anlag och orsakar stav-tappdegeneration. Den kan orsakas av två olika genetiska mutationer: antingen en mutation i AIPL1-genen eller en mutation i IQCB1-genen. Den fjärde PRA har tidig debuteringsålder, nedärvs via ett recessivt anlag, orsakar stav-tappdegeneration och har en okänd genetisk mutation. Abessinier drabbas av både rdAc och rdy. Siames drabbas av samma genmutation som abessinier med rdAc. Perser och afrikansk svartfotad katt verkar ha kliniskt identiska typer av PRA där båda har tidig debuteringsålder, nedärvs via ett recessivt anlag och orsakar stav-tappdegeneration, men de orsakas av olika genmutationer. Perser har en mutation i AIPL1-genen medan afrikansk svartfotad katt har en mutation i IQCB1-genen. PRA hos bengal debuterar tidigt. Den nedärvs via recessivt anlag som orsakar stav-tappdegeneration, men skiljer sig från rdAc, rdy och mutationen som observerats i persers PRA. Det är fortfarande okänt vad bengal har för genmutation och huruvida det handlar om samma genmutation som drabbar afrikanska svartfotade katter. Symtombild och histologiska undersökningar av PRA hos de här raserna är väldigt lika. Alla drabbade katter visar hyperreflektivitet och förtunning av blodkärlen i näthinnan. Histologiskt ses ett förtunnat yttre nukleärlager (outer nuclear layer) och yttre plexiformskikt (outer plexiform layer) samt degeneration av fotoreceptorlagret hos alla drabbade kattraser. De genetiska mutationerna observerade vid PRA hos de här kattraserna verkar vara samma mutationer som finns hos människor med Lebers kongenitala amauros (LCA). Det här betyder att katter drabbade av PRA möjligtvis kan användas som djurmodeller för LCA hos människor. Det är viktigt att raserna med PRA diagnostiseras rätt för att kunna kontrollera sjukdomen genom avelsprogram och för att ge drabbade katter ett liv med hög kvalitet. SLU/Dept. of Animal Breeding and Genetics (until 231231) 2019 M2 eng swe https://stud.epsilon.slu.se/14454/ |
| spellingShingle | Progressive retinal atrophy retinal degeneration cat feline Wolf, Aida Progressive retinal atrophy in cats |
| title | Progressive retinal atrophy in cats |
| title_full | Progressive retinal atrophy in cats |
| title_fullStr | Progressive retinal atrophy in cats |
| title_full_unstemmed | Progressive retinal atrophy in cats |
| title_short | Progressive retinal atrophy in cats |
| title_sort | progressive retinal atrophy in cats |
| topic | Progressive retinal atrophy retinal degeneration cat feline |