Retinose pigmentar

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David Tayah
Rodrigo I. Angelucci
Paulo Sampaio
José Ricardo Carvalho de Lima Rehder

Resumo

Retinose pigmentar (RP) é o termo usado para um grupo de desordens genéticas que são caracterizadas por disfunção progressiva, perda celular e eventual atrofia do tecido retiniano. O acometimento inicial dos fotorreceptores leva à destruição das camadas internas retinianas. A prevalência da RP é 0,02% em americanos economicamente ativos. Destes, 20% dos casos são autossômicos dominantes; 70% são autossômicos recessivos e 10% são ligados ao cromossomo X. A retinose pigmentar pode apresentar-se isoladamente ou dentro de uma síndrome.

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Referências

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