Pathology
RHO germline mutations in rhodopsin-associated retinitis pigmentosa (MIM.180380)
- More than 100 mutations in the rhodopsin gene (RHO) have been identified in patients with retinitis pigmentosa (RP).
Videos
rhodopsin and vision
References
Mendes HF, van der Spuy J, Chapple JP, Cheetham ME. Mechanisms of cell death in rhodopsin retinitis pigmentosa: implications for therapy. Trends Mol Med. 2005 Apr;11(4):177-85. PMID: 15823756
References
O’Reilly M, Palfi A, Chadderton N, Millington-Ward S, Ader M, Cronin T, Tuohy T, Auricchio A, Hildinger M, Tivnan A, McNally N, Humphries MM, Kiang AS, Humphries P, Kenna PF, Farrar GJ. RNA interference-mediated suppression and replacement of human rhodopsin in vivo. Am J Hum Genet. 2007 Jul;81(1):127-35. PMID: 17564969