Cone-Rod Dystrophy With Decreased Male Fertility

Background and History: 

This is an inherited disorder with the curious combination of a progressive retinal disease and sperm abnormalities that result in male infertility.

Clinical Correlations: 

There is considerable variation in the clinical features of this condition.  Severe loss of vision may occur in children but the majority of individuals see well until their 5th decade of life.  They may notice problems with color vision but the disease is relentlessly progressive and there is continued loss of visual function throughout life.  Most of the loss is in central vision, especially early, but eventually peripheral vision is also affected.

The only systemic abnormality is in the formation of sperm, which are reduced in number and in motility.  This, of course, impacts males only with a specific subset of gene mutations that lead to a shortened protein product.  Only a few individuals with this combination have been reported, however.


This is an autosomal recessive disorder that requires a gene change (mutation) in both members of a specific pair.  Parents with one copy are not affected but if they each contribute their copy to a child (which can happen 25% of the time) that offspring will have this condition.

Diagnosis and Prognosis: 

An ophthalmologist would diagnose the eye disorder while a urologist might analyze the sperm.  Since there are many hereditary retinal disorders due to cone-rod DNA abnormalities, and the fertility problem may not come to light until adulthood, the true diagnosis is unlikely to be made until the third decade or later.  There is nothing unique about the eye disease in this condition compared to many other hereditary forms of retinal eye diseases.

Additional Information
Autosomal recessive