Affected Asymptomatic Relatives in Congenital Hereditary Endothelial Dystrophy

Genetics of the corneal endothelial dystrophies: an evidence-based review

“…These findings, as well as the microvilli observed on the posterior cell surface, are now recognized, characteristic features of PPCD, which were likely not recognized as such by the authors as they were first published later that year (38). Family 5 In addition to the aforementioned family, Levenson and colleagues reported a second family with CHED affecting individuals in consecutive generations in their 1973 publication (37). Affected members of this family demonstrated endothelial findings that are now recognized as classic for PPCD, including: endothelial vesicles that the authors described as 'grayish-white, Fig.…”

“…In addition to the aforementioned family, Levenson and colleagues reported a second family with CHED affecting individuals in consecutive generations in their 1973 publication . Affected members of this family demonstrated endothelial findings that are now recognized as classic for PPCD, including: endothelial vesicles that the authors described as ‘grayish‐white, circular lesions…some with clearer centers…along with circular or oval clear vacuole‐like lesions.…”

“…A denser whitish haze often surrounded these vacuole‐like lesions, which on occasion were strung out several in a row’; and endothelial bands described as ‘double‐contoured, nearly straight lesions that traversed the greater extent of both central corneas (Fig. ) ’. The authors acknowledged that the endothelial changes were consistent with those associated with PPCD, but differentiated between CHED and PPCD in this pedigree due to the absence of involvement of the posterior stroma in asymptomatic affected individuals and the diagnosis of congenital corneal edema in one affected individual.…”

IC3D Classification of Corneal Dystrophies—Edition 2

“…Further review of the clinical and pathological descriptions of the 5 families previously reported with CHED1 suggests that many and possibly all of these families have PPCD. [31][32][33] Consequently, AD CHED (CHED1) has been eliminated. Autosomal recessive CHED, previously called CHED2, is now called simply CHED.…”

Dystrophie congénitale héréditaire de la cornée associée à des anomalies extraoculaires diverses

“…Récemment Levenson et al [1973] ont observé chez des parents apparemment sains de sujets atteints de DCC, des anomalies caractéristiques de la membrane de Descemet, c'est pourquoi ils pensent que la maladie est à hérédité autosomique dominante avec expressivité et pénétrance variables.…”