Disease overview

Progressive Retinal Atrophy causes breakdown of the retina, which is a part of the eye essential for vision. Progressive Retinal Atrophy X-linked, Type 1 (XLPRA1) is a late-onset form of this disease. This is a progressive, non-painful disease that affects both types of photoreceptors: rods and cones. Rods are essential for night vision and movement, while cones are used for day vision and color.

Gene name

RPGR

Inheritance

X-linked recessive

Signs and symptoms

XLPRA1 is a slowly progressive disease that causes vision loss in both eyes. This provides more opportunities for helping an affected dog adapt to its changing visual environment. This disease has a late-onset of around 3-5 years of age. Signs typically start with night blindness, which progresses to daytime vision loss.

How is it diagnosed

Thorough examination of the eyes and clinical signs. A veterinary ophthalmologic exam can determine if there are changes in the eye that have or will lead to vision loss. Genetic testing is necessary to determine if there is an underlying genetic cause, which can assist veterinarians with diagnosis and help breeders identify affected and carrier dogs.

Breeds at higher risk

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Citations

Kropatsch R, Akkad DA, Frank M, Rosenhagen C, Altmüller J, Nürnberg P, Epplen JT, Dekomien G. A large deletion in RPGR causes XLPRA in Weimaraner dogs. Canine Genet Epidemiol. 2016 Jul 8;3:7. doi: 10.1186/s40575-016-0037-x. PMID: 27398221; PMCID: PMC4938961.

Zangerl B, Zhang Q, Acland GM, Aguirre GD. Characterization of three microsatellite loci linked to the canine RP3 interval. J Hered. 2002 Jan-Feb;93(1):70-3. doi: 10.1093/jhered/93.1.70. PMID: 12011183.

Zhang Q, Acland GM, Wu WX, Johnson JL, Pearce-Kelling S, Tulloch B, Vervoort R, Wright AF, Aguirre GD. Different RPGR exon ORF15 mutations in Canids provide insights into photoreceptor cell degeneration. Hum Mol Genet. 2002 May 1;11(9):993-1003. doi: 10.1093/hmg/11.9.993. PMID: 11978759.

Disclaimer

Disease diagnosis and treatment should always be performed by a veterinarian. The following information is for educational purposes only.