Abstract
An autosomal dominant anterior segment dysgenesis (ADASD) with variable expressivity affecting members of at least eight generations was identified. One branch of the family involving five generations with 21 of 35 (60%) members affected was studied. This included sixteen affected (9 males and 7 females) who were still living. Clinical findings ranged from anterior Schwalbe's line with mild cataract to severe corneal opacification with moderate cataract while visual acuity varied from 20/20 to hand motion only.
The propositus had a corneal transplant and cataract extraction on one eye at age 6 weeks. Light and electron microscopic analyses demonstrated that the cornea had the following abnormalities: basal epithelial cell protrusions into a thickened Bowman's layer (22-60μ), activated keratocytes throughout the entire stroma, no Descemet's layer or endothelial cells, an aggregation of keratocytes posteriorly. The lens showed focal aggregations of vesicles in cortical fibers with extensive epithelial atrophy.
Maximum likelihood analysis between ADASD and 14 biochemical and serological markers showed probable linkage between ADASD and the MNS blood group on the long arm of chromosome 4 (Z = 3.48).
Article PDF
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Hittner, H., Ferrell, R., Antoszyk, J. et al. 726 AUTOSOMAL DOMINANT ANTERIOR SEGMENT DYSGENESIS WITH VARIABLE EXPRESSIVITY: PROBABLE LINKAGE TO MNS BLOOD GROUP ON CHROMOSOME 4. Pediatr Res 15 (Suppl 4), 563 (1981). https://doi.org/10.1203/00006450-198104001-00749
Issue Date:
DOI: https://doi.org/10.1203/00006450-198104001-00749