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• W2095485093 abstract "Objective To describe the clinical, histopathologic, and hereditary features of a novel familial anterior segment dysgenesis. Design Prospective, observational case series and interventional case report. Participants Ten individuals from three generations of a single family with iris and corneal abnormalities associated with congenital cataracts. Main outcome measures An ophthalmic evaluation including slit-lamp examination, corneal topography, pachymetry, and specular biomicroscopy of all family members, and histopathologic and ultrastructural evaluation of one excised corneal button. Results The proband was an 81-year-old man with bilateral aphakia and diffuse corneal haze, and thinning associated with corneal guttae. His pupils were small, mildly eccentric, and difficult to dilate. Pachymeter readings were 335 μm (right eye) and 330 μm (left eye). Topography confirmed advanced steepening of both corneas. Light microscopic and transmission electron microscopic examinations of the corneal button revealed an attenuated endothelium with prominent intracellular random aggregates of small-diameter filaments staining positively for cytokeratin. Descemet’s membrane was thickened and had marked posterior nodularity. Various-sized polymorphic vacuoles containing layered electron-dense material were present within and between collagen lamellae and within keratocytes throughout the stroma and Bowman’s membrane. Secondary bullous changes of the epithelium with thickening of the basement membrane were also observed. The family pedigree demonstrated an autosomal dominant inheritance pattern. Conclusions This constellation of autosomal dominantly inherited corneal endothelial and stromal disorder, with congenital cataracts and iris abnormalities, represents a novel anterior segment disorder. Its etiology may involve an abnormal migration of the secondary mesenchyme." @default.
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• W2095485093 date "2002-03-01" @default.
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• W2095485093 title "Clinical and ultrastructural features of a novel hereditary anterior segment dysgenesis" @default.
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• W2095485093 doi "https://doi.org/10.1016/s0161-6420(01)00975-7" @default.
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