A New, X-linked Endothelial Corneal Dytrophy Original Reearch Article

Purpoe To decribe the clinical pectrum, the hitopathologic finding obtained from one corneal button, and the genetic mapping of an X-linked endothelial corneal dytrophy (XECD). Deign Obervational cae erie and experimental tudy. Method We examined a total of 60 member of a family with thi dytrophy at the lit-lamp. Light and electron microcopic finding of the corneal button were recorded following one male patient’ penetrating keratoplaty. A panel of 25 microatellite marker covering the X chromoome wa typed in genomic DNA from 50 family member. The data were analyzed uing the ALLEGRO program to obtain two-point and multipoint likelihood of the odd (LOD) core and to generate haplotype. Reult A total of 35 trait carrier were identified in four generation of the family. Nine male patient demontrated evere corneal opacification: two congenital corneal clouding in form of ground gla, milky appearance and even ubepithelial band keratopathie combined with endothelial change reembling moon crater. Twenty-two female and four male patient dicloed only endothelial alteration reembling moon crater. No intance of male-to-male tranmiion of the dieae wa encountered in the family. Light and electron microcopy dicloed focal dicontinuitie and degeneration of the endothelial cell layer and marked thickening of Decemet’ membrane. Multipoint analyi howed linkage with a maximum LOD core of 10.90 between marker DX8057 and DX1047. Concluion To the bet of our knowledge, thi repreent the firt fully documented report of X-linked inheritance of an endothelial corneal dytrophy. Late ubepithelial band keratopathy i a landmark of XECD. A locu for thi corneal dytrophy map to Xq25.