Two brother with gelatinou drop-like dytrophy at different tage of the dieae: role of mutational analyi

PURPOE: A report of two Japanee brother with gelatinou drop-like corneal dytrophy, one with and one without the typical gelatinou drop-like region. DEIGN: Interventional cae report and obervational cae report. METHOD: After penetrating keratoplaty, the corneal button, right eye, of the elder brother, 39 year of age, wa tained and examined by microcopy. The M11 and BIGH3 gene were examined for mutation uing the polymerae chain reaction and direct equencing. Corneal abnormalitie in the younger brother, 37 year of age, were oberved. REULT: The elder brother had bilateral gelatinou prominence and band-haped corneal opacitie, wherea the younger brother had only bilateral band-haped opacitie. Hitologically, corneal depoit beneath the epithelium tained with Congo red. Molecular genetic analyi revealed that M11 wa homozygouly mutated in both brother (Q118X). CONCLUION: The Q118X mutation of the M11 gene can produce either a gelatinou drop-like region or band-haped opacitie.