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Progressive Retinal Atrophy (Mastiff)*

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Description:

This is an inherited eye disease affecting bullmastiffs and mastiffs. It occurs as a result of degeneration of photosesnitive cells in the retina, important for vision in dim light. Initial signs involve changes in reflectivity and appearance of a structure behind the retina that can be observed on a veterinary eye exam. Affected dogs initially present by 18 months of age with vision loss in dim light (night blindness) and loss of peripheral vision. The visual deficits gradually progress to complete vision loss. Dogs that inherit two RHO mutations have a more rapid disease progression than dogs that have only inherited one variarion. The disease follows a variable progression and severity depending on the individual, but complete degeneration of the retina can take years.

Category:

Ophthalmologic - Associated with the eyes and associated structures

Gene:

Rho

Variant Detected:

c.11C>G

Severity:

Low-Moderate. This disease can cause some discomfort and/or dysfunction in the affected animal. It does not generally affect life expectancy.

Mode of Inheritance:

Autosomal Dominant

Research Citation(s):

Proc Natl Acad Sci U S A. 2002 Apr 30; 99(9): 6328–6333.

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