The hereditary corneal dystrophies are remarkable in that only rarely do sufficient opacifications exist at birth or appear during infancy to merit both the prefix "congenital", i.e. a disturbance present at birth, and "dystrophy", i.e. a disturbance developing on a hereditary basis in apparently normal tissue. The term as used has referred to a bilateral symmetrical diffuse opacification of th...

The hereditary corneal dystrophies are remarkable in that only rarely do sufficient opacifications exist at birth or appear during infancy to merit both the prefix "congenital", i.e. a disturbance present at birth, and "dystrophy", i.e. a disturbance developing on a hereditary basis in apparently normal tissue. The term as used has referred to a bilateral symmetrical diffuse opacification of th...

OBJECTIVE To investigate the potential role of apoptosis in the pathogenesis of Fuchs endothelial dystrophy of the cornea. METHODS Twenty-one corneal buttons from patients with Fuchs dystrophy and 15 control corneas were studied. Apoptosis was assessed by the in situ end-labeling of double-stranded DNA breaks, and by immunohistochemical characterization of cellular markers associated with apo...

PURPOSE To investigate whether apoptosis plays a notable role in degeneration of corneal endothelial cells in patients with Fuchs' dystrophy. METHODS Forty-seven corneal buttons from 41 patients with Fuchs' dystrophy were studied. Nucleus labeling, transmission electron microscopy (TEM), and TdT-dUTP terminal nick-end labeling (TUNEL) were used to detect apoptosis. TEM and TUNEL were performe...

OBJECTIVES To search for novel mutations that cause corneal stromal dystrophies and to confirm or revise the clinical diagnosis of patients with these mutations. PATIENTS Through review of the records of the Cogan Eye Pathology Laboratory at the Massachusetts Eye and Ear Infirmary, Boston, and of clinical records, we ascertained 14 unrelated patients with the clinical or histopathologic diagn...