Retinitis pigmentosa

Screening for mutations in RPGR and RP2 genes in Jordanian families with X-linked retinitis pigmentosa

M. F. Haddad, Khabour, O. F., Abuzaideh, K. A. Y., Shihadeh, W., Haddad, M. F., Khabour, O. F., Abuzaideh, K. A. Y., and Shihadeh, W., Screening for mutations in RPGR and RP2 genes in Jordanian families with X-linked retinitis pigmentosa, vol. 15, p. -, 2016.

Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous disease causing progressive degeneration of retinal photoreceptor cells. X-linked RP (XLRP), in which photoreceptor degeneration begins in early childhood and complete blindness often occurs by the fourth decade of life, constitutes the most severe form of this disease. Two genes commonly associated with XLRP have previously been cloned: retinitis pigmentosa GTPase regulator (RPGR) and retinitis pigmentosa 2 (RP2).

Establishment and rapid detection of a heterozygous missense mutation in the CACNA1F gene by ARMS technique with double-base mismatched primers

W. C. Yang, Zhu, L., Zhou, B. X., Tania, S., Zhou, Q., Khan, M. A., Fu, X. L., Cheng, J. L., Lv, H. B., and Fu, J. J., Establishment and rapid detection of a heterozygous missense mutation in the CACNA1F gene by ARMS technique with double-base mismatched primers, vol. 14, pp. 11480-11487, 2015.

Retinitis pigmentosa (RP) is a retinal degenerative disorder that often causes complete blindness. Mutations of more than 50 genes have been identified as associated with RP, including the CACNA1F gene. In a recent study, by employing next-generation sequencing, we identified a novel mutation in the CACNA1F gene.

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.

Subscribe to Retinitis pigmentosa