RHO-associated autosomal dominant retinitis pigmentosa

Summary

Inherited retinal diseases (IRDs) refer to a heterogenous group of conditions where 300+ distinct single-gene defects act on rod or cone photoreceptors to cause vision loss. Worldwide prevalence of IRDs are thought to be 1 in 1000. One of the most common IRDs is autosomal dominant retinitis pigmentosa (adRP) caused by Rhodopsin (RHO) mutations. RHO is expressed in rod photoreceptors which provide us with night vision. Many aspects of the human RHO-associated adRP has been described by our group over the last 3 decades (5,14,26,30,64,67,93,115,167,203,213).

We have also investigated naturally occurring dogs (49,64,67,193,213), and genetically engineered pigs (22,30,35,64), rats (46,64), and mice (64,93,115) with RHO mutations.

Our earlier work concentrated on understanding of disease phenotype, progression, and interaction with light. More recently we have directed our attention to gene-based treatments (193) and outcome measures to be used in clinical trials (167,203,213).

16 Publications On RHO-Associated Autosomal Dominant Retinitis Pigmentosa

213. CIDECIYAN AV, Jacobson SG, Roman AJ, Sumaroka A, Wu V, Charng J, Lisi B, Swider M, Aguirre GD, Beltran WA. Rod function deficit in retained photoreceptors of patients with class B Rhodopsin mutations. Scientific Reports, 10:12552, 2020. [PubMed] [DOI] [PDF] [Ocular Biomarkers Collection]

203. Sumaroka A, CIDECIYAN AV, Charng J, Wu V, Powers CA, Iyer BS, Lisi B, Swider M, Jacobson SG. Autosomal dominant retinitis pigmentosa due to class B Rhodopsin mutations: An objective outcome for future treatment trials. International Journal of Molecular Sciences, 20:E5344, 2019. [PubMed] [Special Issue — Retinal Degeneration: From Pathophysiology to Therapeutic Approaches]

193. CIDECIYAN AV, Sudharsan R, Dufour VL, Massengill MT, Iwabe S, Swider M, Lisi B, Sumaroka A, Marinho LF, Appelbaum T, Rossmiller B, Hauswirth WW, Jacobson SG, Lewin AS, Aguirre GD, Beltran WA. Mutation-independent Rhodopsin gene therapy by knockdown and replacement with a single AAV vector. Proceedings of the National Academy of Sciences USA, 115:E8547-E8556, 2018. [PubMed] [PDF] [UPenn Press Release] [NEI Press Release] [Philadelphia Inquirer]

167. Jacobson SG, McGuigan DB, Sumaroka A, Roman AJ, Gruzensky ML, Sheplock R, Palma J, Schwartz SB, Aleman TS, CIDECIYAN AV. Complexity of the class B phenotype in autosomal dominant retinitis pigmentosa due to Rhodopsin mutations. Investigative Ophthalmology & Visual Science 57:4847-4858, 2016. [PubMed]

115. Sakami S, Maeda T, Bereta G, Okano K, Golczak M, Sumaroka A, Roman AJ, CIDECIYAN AV, Jacobson SG, Palczewski K. Probing mechanisms of photoreceptor degeneration in a new mouse model of the common form of autosomal dominant retinitis pigmentosa due to P23H opsin mutations. Journal of Biological Chemistry, 286:10551-10567, 2011. [PubMed]

93. Aleman TS, CIDECIYAN AV, Sumaroka A, Windsor EAM, Herrera W, White DA, Kaushal S, Naidu A, Roman AJ, Schwartz SB, Stone EM, Jacobson SG. Retinal laminar architecture in human retinitis pigmentosa caused by Rhodopsin gene mutations. Investigative Ophthalmology & Visual Science, 49:1580-1590, 2008. [PubMed]

67. CIDECIYAN AV, Jacobson SG, Aleman TS, Gu D, Pearce-Kelling SE, Sumaroka A, Acland GM, Aguirre GD. In vivo dynamics of retinal injury and repair in the Rhodopsin mutant dog model of human retinitis pigmentosa. Proceedings of the National Academy of Sciences USA 102:5233-5238, 2005. [PubMed] [PDF]

64. Wright AF, Jacobson SG, CIDECIYAN AV, Roman AJ, Shu X, Vlachantoni D, McInnes RR, Riemersma RA. Life span and mitochondrial control of neurodegeneration. Nature Genetics 36:1153-1158, 2004. [PubMed]

49. Kijas JW, CIDECIYAN AV, Aleman TS, Pianta MJ, Pearce-Kelling SE, Miller BJ, Jacobson SG, Aguirre GD, Acland GM. Naturally occurring Rhodopsin mutation in the dog causes retinal dysfunction and degeneration mimicking human dominant retinitis pigmentosa. Proceedings of the National Academy of Sciences USA 99:6328-6333, 2002. [PubMed] [PDF]

46. Aleman TS, LaVail MM, Montemayor R, Ying G-S., Maguire MM, Laties AM, Jacobson SG, CIDECIYAN AV. Augmented rod bipolar cell function in partial photoreceptor loss: an ERG study in P23H Rhodopsin transgenic and aging normal rats. Vision Research 41:2779-2797, 2001. [PubMed]

35. Huang Y, CIDECIYAN AV, Aleman TS, Banin E, Huang J, Syed NA, Petters RM, Wong F, Milam AH, Jacobson SG. Optical coherence tomography (OCT) abnormalities in Rhodopsin mutant transgenic swine with retinal degeneration. Experimental Eye Research 70:247-251, 2000. [PubMed]

30. Banin E, CIDECIYAN AV, Aleman TS, Petters RM, Wong F, Milam AH, Jacobson SG. Retinal rod photoreceptor-specific gene mutation perturbs cone pathway development. Neuron 23:549-557, 1999. [PubMed]

26. CIDECIYAN AV, Hood DC, Huang Y, Banin E, Li Z-Y, Stone EM, Milam AH, Jacobson SG. Disease sequence from mutant Rhodopsin allele to rod and cone photoreceptor degeneration in man. Proceedings of the National Academy of Sciences USA, 95:7103-7108, 1998. [PubMed] [PDF]

22. Petters RM, Alexander CA, Wells KD, Collins EB, Sommer JR, Blanton MR, Rojas G, Hao Y, Flowers WL, Banin E, CIDECIYAN AV, Jacobson SG, Wong F. Genetically engineered large animal model for studying cone photoreceptor survival and degeneration in retinitis pigmentosa. Nature Biotechnology, 15:965-970, 1997. [PubMed]

14. Milam AH, Li Z-Y, CIDECIYAN AV, Jacobson SG. Clinicopathologic effects of the Q64ter Rhodopsin mutation in retinitis pigmentosa. Investigative Ophthalmology & Visual Science, 37:753-765, 1996. [PubMed]

5. Jacobson SG, Kemp CM, CIDECIYAN AV, Macke JP, Sung C-H and Nathans J. Phenotypes of stop codon and splice site Rhodopsin mutations causing retinitis pigmentosa. Investigative Ophthalmology & Visual Science, 35:2521-2534, 1994. [PubMed]

Last updated July 30, 2020