Microphthalmia

Affected dogs may have small or undeveloped eyes or other defects of the retina, iris, or optic nerve. Because their vision is impaired, this may cause dogs to often hesitate on stairs, bump into doorways or walls, have difficulty fetching toys, and be disoriented if the furniture is moved.

Microphthalmia may be observed at birth or as soon as the puppies open their eyes, and other changes may be noted on an ophthalmic exam at a few weeks of age, though they are present from birth.

Microphthalmia can be observed during a basic eye examination; however, a veterinary ophthalmologist may be needed for a comprehensive diagnosis of the more subtle changes.

There is no specific treatment for Microphthalmia.

Talk to your vet about your dog’s microphthalmia result so you can discuss whether any signs are present and plan care if needed.

Some dogs with this condition may have limited vision or be blind, while others can still see well enough to adapt easily.

Help your dog move safely by keeping furniture in consistent locations, using verbal cues, and keeping them on a leash in unfamiliar areas.

This variant was first identified in the Soft Coated Wheaten Terrier.

Penetrance: Microphthalmia is transmitted as an autosomal recessive trait with penetrance determined by the maternal genotype.

Gene

RBP4 Exon 2

Inheritance type

recessive

Clinical category

Ophthalmologic

Citations

1. Kaukonen et al 2018

• Soft Coated Wheaten Terrier