Homozygous Granular Corneal Dystrophy Type II (Avellino Corneal Dystrophy): Natural History and Progression After Treatment

Abstract

PURPOSE: To describe the clinical features of homozygous granular corneal dystrophy type II (GCDII) with age and with several kinds of treatment in 18 homozygous patients in several different conditions. METHODS: Eighteen homozygous GCDII patients, confirmed with DNA analysis, of 13 families were enrolled. Their clinical features that include age at detection by parents, visual acuity, and disease progression were evaluated. We also studied the recurrence patterns for the 13 patients who underwent phototherapeutic keratectomy, penetrating keratoplasty, lamellar keratoplasty, or deep lamellar keratoplasty. RESULTS: The age at detection by the parents ranged from 3 to 5 years; visual loss begins in childhood with progression into the 20s. All of the patients who had undergone surgeries acquired better vision immediately after surgery. Corneal deposits reappeared soon after treatments. Recurrences became progressively more rapid and severe with treatments. CONCLUSIONS: The clinical features of homozygous GCDII are characterized by a severe granular type of corneal dystrophy with an early onset and rapid progression. After surgical treatment, recurrence is rapid and severe.