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Hereditary Vitreoretinopathies 

Hereditary Vitreoretinopathies
Chapter:
Hereditary Vitreoretinopathies
Author(s):

Daniel F. Rosberger

, Ravi D. Patel

, and Elias I. Traboulsi

DOI:
10.1093/med/9780195326147.003.0036
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date: 28 October 2020

The hereditary vitreoretinopathies are a group of genetically determined disorders characterized by degenerative changes in the vitreous and retina. This chapter discusses snowflake degeneration, familial exudative vitreoretinopathy Goldmann-Favre syndrome, autosomal dominant vitreoretinochoroidopathy, X-linked congenital retinoschisis, Wagner disease, Stickler syndrome (a syndrome of myelinated nerve fibers, vitreoretinopathy, and skeletal malformations), and the Knobloch syndrome. Some of these conditions are also covered elsewhere in this textbook, yet they are also discussed here.

Until recently, little was known about the molecular genetics of these disorders, and it was necessary to rely on clinical characteristics and electrophysiologic and psychophysical testing to establish a diagnosis. Given the variability of penetrance and expressivity, it was often difficult to make a diagnosis—especially in mild or atypical cases. As outlined in Table 36.1, significant advances have been made in the elucidation of the precise molecular biology of many of these disorders, availing genetic testing and improving our ability to provide more accurate diagnoses and work on specific therapies.

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