Retinal Atrophy, progressive, Type I

(Photoreceptor dysplasia)

Genes: PPT1, also HIVEP3

Transmission: Autosomal recessive

For an autosomal recessive genetic disease, an animal must have two copies of the mutation in question to be at risk of developing the disease.  Both parents of an affected animal must be carriers of at least one copy of the mutation.  Animals that have only one copy of the mutation are not at risk of developing the disease but are carrier animals that can pass the mutation on to future generations.

Mutations:

PPT1 gene mutation: complex rearrangement in coding sequence, complex genetics

HICWP3 gene mutation: intronic variant, probably not causal, potentially useful marker

Medical system: Ocular

Breeds: Schnauzer - Miniature

References:

OMIA link: [1311-9615]

Genetics Committee of the American College of Veterinary Ophthalmologists. (2021) The Blue Book: Ocular disorders presumed to be inherited in purebred dogs. 13th Edition.  [https://ofa.org/wp-content/uploads/2022/10/ACVO-Blue-Book-2021.pdf]

Aguirre GD, Lohi H, Kaukonen M, Murgiano L. (2020) Formal commentary. PLoS Genet 16:e1009059.  [https://journals.plos.org/plosgenetics/article?id=10.1371/journal.pgen.1009059]

Kaukonen M, Quintero IB, Mukarram AK, et al. (2020) A putative silencer variant in a spontaneous canine model of retinitis pigmentosa. PLoS Genet 16:e1008659.  [pubmed/32150541]

Murgiano L, Becker D, Torjman D, et al. (2019) Complex structural PPT1 variant associated with non-syndromic canine retinal degeneration. G3 (Bethesda) 9:425-437.  [pubmed/30541930]

Parshall C, Wyman M, Nitroy S, et al. (1991) Photoreceptor dysplasia: an inherited progressive retinal atrophy of miniature schnauzer dogs. Prog. Vet. Comp. Ophth. 1:187-203. [https://core.ac.uk/download/pdf/214152609.pdf]