Variable expression in flecked (speckled) dystrophy of the cornea.
Five members of a three-generation pedigree had flecked corneal dystrophy. The number of flecks varied from patient to patient, and one individual was affected in only one eye. Visual acuity was normal in all family members. Homocystinuria also occurred in this family, but appeared to be coincidental. Central cloudy dystrophy of the cornea appears to be genotypically identical to flecked dystrophy of the cornea but is phenotypically distinct.
D000328:Adult; D000368:Aged; D002675:Child, Preschool; D003315:Cornea / Q000473:pathology*; D003317:Corneal Dystrophies, Hereditary / Q000150:complications / Q000235:genetics* / Q000473:pathology; D003937:Diagnosis, Differential; D005128:Eye Diseases / Q000150:complications; D005260:Female; D006801:Humans; D007908:Lens, Crystalline; D008297:Male; D010375:Pedigree