Hereditary cataract mouse with lens rupture: disputed priority

Spontaneous rupture of lens capsule with dislocation of nucleus in hypermature cataract.

We report a case of spontaneous rupture of the lens capsule in a woman with hypermature cataract, who presented to us with nucleus dislocation in the posterior chamber of her left eye. The capsule had ruptured inferiorly and the nucleus had slided out of it. The anterior chamber was quiet; and no sign of uveitis was noted. She underwent nucleus extraction and IOL implantation in the sulcus. Spo...

Mutation of Dock5, a member of the guanine exchange factor Dock180 superfamily, in the rupture of lens cataract mouse.

Rupture of lens cataract (RLC) in the mouse is a spontaneous mutation inherited by a single autosomal recessive gene mapped on chromosome 14. Fine mapping of the mutant locus revealed a nucleotide deletion of 27-bp at the end of 15th exon of Dock5 (Dedicator of cytokinesis-5), a member of the Dock gene superfamily. Since the deletion occurred in-frame, the RLC-DOCK5 protein had a deletion of 9 ...

LENS AND CATARACT Dr

Hereditary hyperferritinemia-cataract syndrome: prevalence, lens morphology, spectrum of mutations, and clinical presentations.

OBJECTIVES To provide a comprehensive description of the clinical presentations, cataract morphology, and molecular basis of hereditary hyperferritinemia-cataract syndrome (HHCS) in 4 Australian pedigrees and to estimate its prevalence. METHODS All known cases of HHCS in southeastern Australia were ascertained. Family members provided a medical history and underwent physical examination, lens...

The lens in hereditary hyperferritinaemia cataract syndrome contains crystalline deposits of L-ferritin.

BACKGROUND/AIM Hereditary hyperferritinaemia cataract syndrome (HHCS) is an autosomal dominant disorder characterised by elevated serum L-ferritin and bilateral cataracts. The ocular manifestations of this disorder are poorly studied. This study therefore sought to determine the origin of cataracts in HHCS. METHODS L-ferritin ELISA, immunohistochemical and ultrastructural analysis of a lens n...