Clinical differentiation of recessive congenital hereditary endothelial dystrophy and dominant hereditary endothelial dystrophy.
Our review of previously published reports and familial cases revealed that corneal clouding in autosomal recessive congenital hereditary endothelial dystrophy was present at birth or within the neonatal period. Further, corneal changes with time were minimal, nystagmus was often present, and there were no other signs or symptoms. Patients with autosomal dominant endothelial dystrophy usually had clear corneas early in life; corneal opacification was slowly progressive, nystagmus was infrequent, and photophobia, as well as epiphora, may have been the first indications of the dystrophy. As there is usually little or no congenital evidence of the dominant type, "infantile" or "autosomal dominant" hereditary endothelial dystrophy would be more appropriate names for the dominant variant.
D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics*; D003318:Corneal Opacity / Q000151:congenital*; D004727:Endothelium; D005799:Genes, Dominant; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree