Purpose: To describe a case of severe corneal granular dystrophy with clinicopathologic and molecular genetic findings.
Methods: The DNAs of a 53-year-old male patient suffering from corneal granular dystrophy and nonaffected family members were analyzed by molecular genetic methods. Clinical features, and histopathologic and immunohistochemical findings from the penetrating keratoplasty specimen, are described.
Results: Histopathologic and molecular genetic findings confirmed the diagnosis. A new genetic polymorphism is described. Histopathologic evidence supports the assumption of the epithelial origin of the described dystrophy.
Conclusions: A severe course of corneal granular dystrophy can be present in the absence of evidence of a homozygous mutational status, or a novel mutation. Molecular genetic analysis revealed a new polymorphism in this patient. The histopathologic findings support the assumption of an epithelial origin of the granular corneal deposits. Phototherapeutic keratectomy and penetrating keratoplasty may improve vision, but cannot prevent recurrence of the disease.