Corneal Dystrophy, Endothelial X-Linked

Clinical Characteristics
Ocular Features: 

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 7th 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.

Systemic Features: 

No systemic disease associations have been reported.


This is the only endothelial dystrophy that is X-linked (Xq25).  A single family has been reported and the molecular mutation is unknown. Females may be affected but less severely than males and are usually asymptomatic.  In a large pedigree in which 60 individuals were studied, no male-to-male transmission was found.

X-linked dominant, father affected
X-linked dominant, mother affected
X-linked recessive, carrier mother
X-linked recessive, father affected
Treatment Options: 

The few reported cases and limited treatments used make generalizations difficult.  But males have had penetrating keratoplasty with good results lasting for decades.

Article Title: 

A new, X-linked endothelial corneal dystrophy

Schmid E, Lisch W, Philipp W, Lechner S, Gottinger W, Schlotzer-Schrehardt U, Muller T, Utermann G, Janecke AR. A new, X-linked endothelial corneal dystrophy. Am J Ophthalmol. 2006 Mar;141(3):478-487.

PubMed ID: 
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