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Human Molecular Genetics, 2002, Vol. 11, No. 10 1219-1227
© 2002 Oxford University Press

Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns

Carlo Rivolta{dagger}, Dror Sharon{dagger}, Margaret M. DeAngelis and Thaddeus P. Dryja*

Ocular Molecular Genetics Institute, Harvard Medical School and Massachusetts Eye and Ear Infirmary, 243 Charles Street, Boston, MA 02114 USA

Received February 15, 2002; Accepted March 11, 2002

Retinitis pigmentosa (RP) and allied diseases are heterogeneous clinically and genetically. Here we summarize the retinal cell types involved in these diseases, the large number of genes that cause them, and the variety of inheritance patterns that the affected families display. Special consideration is given to unusual inheritance patterns. The aggregate carrier frequency for recessive RP alleles may be as high as 10%.

* To whom correspondence should be addressed. Tel: +1 617 573 3319; Fax: +1 617 573 3168; Email: Thaddeus_Dryja{at}meei.harvard.edu

{dagger} The authors wish it to be known that, in their opinion, the first two authors should be regarded as joint first Authors.


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