What are the signs & symptoms that develop in affected dogs?

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.

How do vets diagnose this condition?

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.

How is this condition treated?

There is no specific treatment for Microphthalmia.

all health conditions

Microphthalmia

eye

A variant in the RBP4 gene causes multiple eye abnormalities due to a fetal serum vitamin A (retinol) deficiency. Vitamin A is needed to synthesize retinoic acid (RA), a potent molecule needed for the proper development of the eye and other tissues. The eye is the most sensitive among organs to reduced RA levels during the formation of the embryo.

Signs and symptoms

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.

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Diagnosis
Treatment
What to do if your dog is at risk

Actions
- Owners should help affected dogs navigate their environments by keeping furniture in the same location in the home, ensuring they are on a leash in an unfamiliar territory outside, and training them to understand verbal commands.
Genetic Information

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

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

Gene names:

RBP4 Exon 2 ‐ chr

Inheritance type:

recessive

Citations:

Kaukonen et al 2018
Breeds affected
This health condition affects the following breeds
- Soft Coated Wheaten Terrier

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What our DNA kits test for:

Microphthalmia

Signs and symptoms

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Embark for Breeders dog DNA test kits

Diagnosis

Treatment

What to do if your dog is at risk

Actions

Genetic Information

Gene names:

Inheritance type:

Citations:

Breeds affected

Soft Coated Wheaten Terrier

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Dog owners

Breeding programs

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