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Arch Ophthalmol. 2004;122:913-915.

	Since this article does not have an abstract, we have provided the first 150 words of the full text and any section headings.

Kniest dysplasia is a variant of the spondyloepiphyseal dysplasias caused by an abnormal synthesis of collagen type II. In 1952, Kniest¹ reported the first specific description of a variety of chondrodystrophy that he termed an atypical chondrodystrophy, which came to be known as Kniest dysplasia. ¹

A patient with Kniest dysplasia usually is seen with characteristic round facies, midfacial flatness, and proptosis. Radiologic findings are pathognomic and differentiate this syndrome from other bone dysplasias and dwarfism.² Histologically the syndrome is characterized by abnormal cartilage with large chondrocytes embedded in loosely woven matrix that contains many empty spaces and gives rise to the name Swiss cheese cartilage syndrome. The chondrocytes have dilated cisternae of endoplasmic reticulum.³ Abnormal organization of type II collagen has been found to be due to a gene mutation.⁴

Kniest dysplasia is associated with multiple ocular abnormalities.⁵ Myopia, vitreous liquefaction and syneresis, vitreous condensation, traction at the vitreous . . . [Full Text of this Article]

Report of a Case


Comment
K. V. Chalam, MD, PhD
Jacksonville, Fla

R. C. Tripathi, MD, PhD; B. J. Tripathi, PhD
Columbia, SC

Vinay A. Shah, MD
Jacksonville

David Yee, MD; V. A. Pakalnis, MD
Columbia

Corresponding author and reprints: K. V. Chalam, MD, PhD, Department of Ophthalmology, University of Florida College of Medicine, 580 W Eighth St, Jacksonville, FL 32209 (e-mail: kvchalam@aol.com).