congenital corneal endothelial dystrophy

The combination of congenital endothelial dystrophy and progressive neural deafness is known as Harboyan syndrome.  This disorder must be distinguished from another autosomal recessive disorder, congenital endothelial dystrophy 2 or CHED2 (217700), in which deafness does not occur.  While the corneal disease in Harboyan is present at birth, the deafness often does not become obvious until the second and third decades of life although audiometry can detect some hearing loss in the first decade.  The cornea is thickened and edematous resulting in various degrees of visual impairment, even to the level of counting fingers.  Electrophysiologic studies have been normal.