Cataract in Kniest dysplasia: clinicopathologic correlation.

نویسندگان

  • K V Chalam
  • R C Tripathi
  • B J Tripathi
  • Vinay A Shah
  • David Yee
  • V A Pakalnis
چکیده

Kniest dysplasia is a variant of the spondyloepiphyseal dysplasias caused by an abnormal synthesis of collagen type II. In 1952, Kniest reported the first specific description of a variety of chondrodystrophy that he termed an atypical chondrodystrophy, which came to be known as Kniest dysplasia. A patient with Kniest dysplasia usually is seen with characteristic round facies, midfacial flatness, and proptosis. Radiologic findings are pathognomic and differentiate this syndrome fromotherbonedysplasias and dwarfism. Histologically the syndrome is characterized by abnormal cartilage with large chondrocytes embedded in loosely woven matrix that containsmanyemptyspacesandgives rise to the name Swiss cheese cartilage syndrome.Thechondrocyteshave dilated cisternae of endoplasmic reticulum. Abnormal organization of type II collagen has been found to be due to a gene mutation. Kniest dysplasia is associated with multiple ocular abnormalities. Myopia, vitreous liquefactionandsyneresis, vitreous condensation, traction at the vitreous base, areas of white without pressure at the retinal periphery, and extensive perivascular lattice degeneration are common findings. Cataracts tend to develop at an early age and are firm in consistency. We report the ultrastructural features of the lens capsule in a patient with Kniest dysplasia.

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Kniest dysplasia: patient's growth progress and development--evolution of abnormalities, 30 year follow up.

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عنوان ژورنال:
  • Archives of ophthalmology

دوره 122 6  شماره 

صفحات  -

تاریخ انتشار 2004