Myopia 25, Autosomal Dominant, Nonsyndromic

Background and History: 

Visual images that are not focused on the retina of an otherwise healthy eye are blurry to the observer. These conditions may be due to refractive errors known as myopia (near sightedness), hyperopia (far sightedness) and astigmatism (irregular focus), occur when the eye is too large, or too small, or the cornea is irregular, among other things.  Refractive errors usually occur in the absence of other eye or body abnormalities (called nonsyndromic) but they also occur when there are other eye conditions or inherited disorders present. 

The condition described here is limited to the eye which is otherwise healthy.

Clinical Correlations: 

In this condition the only consistent abnormality is nearsightedness which occurs when the eye is too large with images focused in front of the retina.  Its onset is some time before the age of 10 years and can be progressive.  The blurred vision is corrected by wearing prescription glasses or contact lenses.

Extreme nearsightedness as in this disorder is often associated with secondary eye problems such as thinning of the retina and tears in the retina that increase the risk of retinal detachments.  Sharp vision may be lost when the macula of the eye degenerates as part of progressive disease of the retina.

Genetics: 

This disorder has a transmission pattern consistent with autosomal dominant inheritance.  Therefore, it can be passed directly from parent to child in a vertical pattern.  Mutations in a specific gene have been identified.

Diagnosis and Prognosis: 

Eye doctors are able to detect this condition by simple examination of the eye for refractive errors.  However, a complete eye examination is advised to look for secondary retinal disease.  It is also useful to have periodic evaluations since refractive errors such as myopia are subject change throughout life and, of course, to identify retinal changes.  Patients should be advised to be aware of the acute onset of 'floaters', flashing lights, and loss of vision so that prompt intervention can be made.

There are no abnormalities outside of the eye.

Additional Information
Inheritance/Pedigree: 
Autosomal dominant