Corneal Dystrophy, Endothelial X-Linked Clinical CharacteristicsOcular 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. GeneticsThis 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. Pedigree: X-linked dominant, father affectedX-linked dominant, mother affectedX-linked recessive, carrier motherX-linked recessive, father affectedTreatmentTreatment Options: The few reported cases and limited treatments used make generalizations difficult. But males have had penetrating keratoplasty with good results lasting for decades. ReferencesArticle 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: 16490493 Read more about Corneal Dystrophy, Endothelial X-Linked
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: 16490493
