Chromosomal translocation 3q-5q

Association between a new 3q;5q chromosomal translocation and dystrophy of human retinal pigment epithelium

S. R. F. Pereira, Silva, A. S., Bormann, E. P., and Kuppinger, O., Association between a new 3q;5q chromosomal translocation and dystrophy of human retinal pigment epithelium, vol. 6. pp. 1085-1090, 2007.

Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal degeneration. This group of disorders essentially leads to blindness due to mutations in different genes. The genetic basis affected by sporadic and inherited autosomal dominant, autosomal recessive or X-linked mutations is complex. In humans, RP is in most cases associated with missense mutations in the rhodopsin gene (RHO). RHO plays an important role in phototransduction pathways. So far, few studies have described associations between chromosomal alterations and RP.

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