Corneal Dystrophy and Perceptive Deafness (SLC4A11)

Corneal dystrophy and perceptive deafness is a rare autosomal recessive disease which is caused by pathogenic variants in the gene SLC4A11. It has been reported across multiple ethnicities. Clinical features include corneal clouding that is present from birth or early infancy, and progressive hearing loss that develops between late childhood and early adulthood. Some patients will not develop hearing loss. At the moment, it is not known why some patients develop hearing loss and others do not. Life expectancy is not affected.

For information about carrier frequency and residual risk, please see the residual risk table.

This gene is included on the following panel(s):