Disease overview

Progressive Retinal Atrophy (PRA) causes breakdown of the retina, which is a part of the eye essential for vision. PRA X-linked, Type 2 is an early-onset form of this disease. This is a progressive, non-painful disease that affects both types of photoreceptors: rods and cones. Rod cells are responsible for vision in low light conditions and for detecting and following movement, while cone cells detect color and adjust brightness, but do not work as well in low light. This is a severe form, and occurs during early retinal development.

Gene name

RPGR

Inheritance

X-linked recessive

Signs and symptoms

PRA X-linked, Type 2 has an early-onset of around 4 weeks 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

Citations

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.