title: The clinical spectrum of posterior polymorphous dystrophy.
abstract: We examined 61 affected members of eight families with an inherited corneal dystrophy. The corneal abnormalities varied greatly from one member of a family to another. Some patients had only a few isolated endothelial vesicles, while others in the same family had severe secondary stromal and epithelial edema. In some patients edema was present at birth or in early childhood; in others it developed later in life. The wide variation of corneal abnormalities suggests the possibility that several conditions previously described as separate disease entities, such as grouped vesicles, Schnyder's posterior herpes, posterior polymorphous dystrophy, and congenital hereditary endothelial dystrophy, are part of the clinical spectrum of expression of a single familial corneal dystrophy. Some affected family members also had ocular hypertension or open-angle glaucoma. Broad iridocorneal adhesions were present in some of the patients with glaucoma and in others with normal intraocular pressures. Other ocular abnormalities present in a few patients include pupillary ectropion, "glass membranes" on the anterior iris surface, and bands in Descemet's membrane. The transmission in most of the families was autosomal dominant. In two families it appeared to be autosomal recessive.
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D003315:Cornea / Q000473:pathology; D003317:Corneal Dystrophies, Hereditary / Q000150:complications / Q000235:genetics* / Q000473:pathology; D003886:Descemet Membrane / Q000473:pathology; D005260:Female; D005901:Glaucoma / Q000150:complications; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007429:Intraocular Pressure; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D014603:Uveal Diseases / Q000150:complications; D014792:Visual Acuity