Corneal Dystrophy, Endothelial X-Linked

Corneal opacification is severe in males and has been described as resembling ground glass, or having a milky white appearance throughout the entire cornea.  Corneal clouding may be seen in infants but progresses with age in most cases.  In a 7 generation Austrian family, nine males had severe corneal opacification, seven with band keratopathy and 2 with the typical ground glass appearance.  Vision may be 20/20 even in adults but the majority have acuities in the range of 20/30 to 20/60 even into the 7^th decade.  A few have vision of 20/100 to 20/400 even as young adults and one 19 year old was reported with nystagmus.  The corneas of twenty-two females and four males were said to have only a 'moon crater-like' appearance resulting from focal discontinuities in the endothelial layer.  Tissue studies of a keratoplasty button from a 60 year old male revealed endothelial degeneration and thickening of the Descemet membrane.  There may also be irregular thinning of the epithelial and Bowman layers.