TY - JOUR
T1 - Clinical and ultrastructural features of a novel hereditary anterior segment dysgenesis
AU - Karamursel Akpek, Esen
AU - Jun, Albert S.
AU - Goodman, Daniel F.
AU - Green, W. Richard
AU - Gottsch, John D.
N1 - Funding Information:
Supported by a grant from Research to Prevent Blindness, Inc. (JOG), New York, New York.
Copyright:
Copyright 2008 Elsevier B.V., All rights reserved.
PY - 2002
Y1 - 2002
N2 - 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.
AB - 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.
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U2 - 10.1016/S0161-6420(01)00975-7
DO - 10.1016/S0161-6420(01)00975-7
M3 - Article
C2 - 11874753
AN - SCOPUS:0036188164
VL - 109
SP - 513
EP - 519
JO - Ophthalmology
JF - Ophthalmology
SN - 0161-6420
IS - 3
ER -