The two most common autosomal dominant dystrophies of the corneal stroma are lattice corneal dystrophy type I and granular dystrophy. A third autosomal dominant stromal dystrophy (Avellino) has also been recognized. Chromosome linkage analysis of four families with Avellino dystrophy mapped the disease-causing gene to chromosome 5q. Subsequent linkage analysis of two families with typical lattice dystrophy and two with typical granular dystrophy also revealed significant linkage with the same markers. Thus, each of three clinically and histopathologically distinct phenotypes is independently linked to 5q. The maximum combined lod score using all 114 affected patients was 28.6 with marker D5S393. None of the 14 known human amyloid-associated genes map to chromosome 5.
Summary:A new method for observing normal and pathologic states of the human tear film using tandem scanning confocal microscopy is presented. The confocal microscope is configured with a horizontal light path, a 10 × dry objective, and an image-intensified camera for collecting images at a magnification of approximately 150×. The advantages of confocal microscopy can be used to collect reflected images of the human tear film with improved detail and resolution.
This case report describes the dental and physical anomalies observed in a young female patient who had a chromosome abnormality involving deletion of the q 33‐q 35 region of chromosome 2. The dental dysplasia observed in this patient is proposed to be of genetic origin but the complication of anoxia at birth makes it difficult to assign the intellectual and physical impairments solely to the genetic deletion.
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