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Progressive Retinal Atrophy, CNGA1

General

Disease Name
Progressive Retinal Atrophy, CNGA1
Disease Name 2
Progressive Retinal Atrophy, CNGA1-related
OMIA
1977
Gene Name
CNGA1
Mutation
c.1752_1755delAACT
Disease Code
CNGA1
Test Type
Genetic Disease/Disorder
Synonyms/Related Terms
Progressive Retinal Atrophy - Shetland Sheepdog
Details
PRA CNGA1 is one cause of early onset PRA, in Shelties that clinically appears the same as in other breeds. As in other forms of PRA, it starts as night-blindness, progressing to sight loss even in bright light, eventually leading to blindness. The average age of clinical diagnosis is reported to be 5 years, but there is some variation. It is known that there are other forms of PRA in Shelties, including ones that currently do not have tests.
Details 2
PRA CNGA1 is one cause of early onset PRA, in Shelties that clinically appears the same as in other breeds. As in other forms of PRA, it starts as night-blindness, progressing to sight loss even in bright light, eventually leading to blindness. The average age of clinical diagnosis is reported to be 5 years, but there is some variation. The breed suffers from at least one, and possibly more variants of PRA that are not yet identified, including unidentified mutations of Slow Progressing Retinopathy (SPR).
Published
Wiik, A.C., Ropstad, E.O., Ekesten, B., Karlstam, L., Wade, C.M., Lingaas, F. : Progressive retinal atrophy in Shetland sheepdog is associated with a mutation in the CNGA1 gene. Anim Genet 46:515-21, 2015. Pubmed reference: 26202106. DOI: 10.1111/age.12323.
Published 2
Karlstam et al., A slowly progressive retinopathy in the Shetland Sheepdog. Vet Ophthalmol. 2011 Jul; 14(4):227-38.
Body/System/Process
Eye
Inheritance
AR
Gene Name Text
cyclic nucleotide gated channel alpha 1
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