BACKGROUND: We report on three cases of a progressive anterior corneal degeneration with clinical characteristics of limbal insufficiency occurring in three persons in three consecutive generations of one family. The disease has not yet been described in literature. PATIENTS: A woman aged 68, her 51 years old son and his 19 years old son are affected by the disease, which suggests autosomal dominant inheritance. None of the affected family members suffers from any form of collagenosis, endocrine insufficiency, chronic dermatosis, alteration of fat metabolism or other relevant systemic diseases. There is no accompanying disease of lids and conjunctiva except of a keratoconjunctivitis sicca with alteration of the mucin phase. The youngest affected member has a binocular anterior polar cataract. In the eldest affected member we performed penetrating keratoplasty. HISTOPATHOLOGY: Revealed thinning of corneal epithelium, moderate intra- and subepithelial granulocytary infiltration, a marked hyaline thickening of Bowman's membrane. The adjacent stroma showed accumulation of granulocytes and an increased number of capillaries and fibroblasts. Posterior stroma, Descemet's membrane and endothelium were normal. There were no goblet cells in the central epithelium. CONCLUSIONS: The appearance of the disease in three consecutive generations (strongly suggesting autosomal dominant inheritance) and the progressivity are characteristics of a dystrophical process. Development of a circular pannus and infiltration of epithelium and stroma with granulocytes however classify the disease as a degeneration, clinically and pathologically similar to Salzmann's nodular degeneration and to autosomal dominantly inherited keratitis.
BACKGROUND: We report on three cases of a progressive anterior corneal degeneration with clinical characteristics of limbal insufficiency occurring in three persons in three consecutive generations of one family. The disease has not yet been described in literature. PATIENTS: A woman aged 68, her 51 years old son and his 19 years old son are affected by the disease, which suggests autosomal dominant inheritance. None of the affected family members suffers from any form of collagenosis, endocrine insufficiency, chronic dermatosis, alteration of fat metabolism or other relevant systemic diseases. There is no accompanying disease of lids and conjunctiva except of a keratoconjunctivitis sicca with alteration of the mucin phase. The youngest affected member has a binocular anterior polar cataract. In the eldest affected member we performed penetrating keratoplasty. HISTOPATHOLOGY: Revealed thinning of corneal epithelium, moderate intra- and subepithelial granulocytary infiltration, a marked hyaline thickening of Bowman's membrane. The adjacent stroma showed accumulation of granulocytes and an increased number of capillaries and fibroblasts. Posterior stroma, Descemet's membrane and endothelium were normal. There were no goblet cells in the central epithelium. CONCLUSIONS: The appearance of the disease in three consecutive generations (strongly suggesting autosomal dominant inheritance) and the progressivity are characteristics of a dystrophical process. Development of a circular pannus and infiltration of epithelium and stroma with granulocytes however classify the disease as a degeneration, clinically and pathologically similar to Salzmann's nodular degeneration and to autosomal dominantly inherited keratitis.