RESUMEN

A family was previously reported as suffering from severe granular dystrophy. The phenotypic picture suggested a mix of homozygous and heterozygous family members. Genetic analysis confirms the homozygousity in the patients most severely affected, but shows the disease state to be one of Avellino corneal dystrophy. The previous case reports are extended immunohistological staining using polyclonal antibodies raised against keratofepithelin. This genotype/phenotype correlation study is consistent with incomplete dominance.

Asunto(s)

Distrofias Hereditarias de la Córnea/genética , Proteínas de la Matriz Extracelular/genética , Proteínas del Ojo/genética , Factor de Crecimiento Transformador beta/genética , Adolescente , Niño , Distrofias Hereditarias de la Córnea/patología , Distrofias Hereditarias de la Córnea/cirugía , Trasplante de Córnea/métodos , Salud de la Familia , Femenino , Homocigoto , Humanos , Masculino , Persona de Mediana Edad , Mutación , Linaje , Fenotipo , Agudeza Visual/genética