Clinical and ultrastructural features of a novel hereditary anterior segment dysgenesis

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