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PDE6B
Disease Category: autosomal recessive
Patient Population: unknown
Active Clinical Trials: None currently active
Treatment Options:
Strategies to Preserve Eye Health: Lutein
Institution(s) Conducting Research: Jules Stein Eye Institute | UPMC Scheie Eye Institute | Clinique Ophtalmologique | Quinze-Vingts (XV-XX) National Ophthalmology Hospital
FACES OF RP
Lemay-Pelletier kids
Quebec, Canada
IN THE NEWS
ACADEMIC PAPERS | JOURNAL ARTICLES | PERSONAL STORIES
Novel variants in PDE6A and PDE6B genes and its phenotypes in patients with retinitis pigmentosa in Chinese families
Yuyu Li, Ruyi Li, Hehua Dai, and Genlin Li | Novel variants in PDE6A and PDE6B genes and its phenotypes in patients with retinitis pigmentosa in Chinese families | BMC Ophthalmoly | 22, 27 | 2022 | doi.org/10.1186/s12886-021-02242-5
Retinitis pigmentosa (RP) is a genetically heterogeneous disease with 89 causative genes identified to date. However, only approximately 60% of RP cases genetically solved to date, predicating that many novel disease-causing variants are yet to be identified. The purpose of this study is to identify novel variants in PDE6A and PDE6B genes and present its phenotypes in patients with retinitis pigmentosa in Chinese families.
Mutations in the PDE6B gene in autosomal recessive retinitis pigmentosa
M. Danciger, J. Blaney, Y Q Gao, and D. Y. Zhao | Mutations in the PDE6B gene in autosomal recessive retinitis pigmentosa | osti.gov | 1 Nov 1995 | doi:10.1006/geno.1995.0001
We have studied 24 small families with presumed autosomal recessive inheritance of retinitis pigmentosa by a combination of haplotype analysis and exon screening. Initial analysis of the families was made with a dinucleotide repeat polymorphism adjacent to the gene for rod cGMP-phosphodiesterase (PDE6B).
Late-stage rescue of visually guided behavior in the context of a significantly remodeled retinitis pigmentosa mouse model
J. Kajtna, S.H. Tsang, S.F. Koch | Late-stage rescue of visually guided behavior in the context of a significantly remodeled retinitis pigmentosa mouse model | Cellular Molecular Life Sciences | 79|148|2022|doi.org/10.1007/s00018-022-04161-0
Therapeutic Margins in a Novel Preclinical Model of Retinitis Pigmentosa
Richard J. Davis, Chun-Wei Hsu, Yi-Ting Tsai, Katherine J. Wert, Javier Sancho-Pelluz, Chyuan-Sheng Lin and Stephen H. Tsang | Journal of Neuroscience| 14 Aug 2013 | 33 (33) | 13475-13483 | doi.org/10.1523/JNEUROSCI.0419-13.2013
The third-most common cause of autosomal recessive retinitis pigmentosa (RP) is due to defective cGMP phosphodiesterase-6 (PDE6). Previous work using viral gene therapy on PDE6-mutant mouse models demonstrated photoreceptors can be rescued if administered before degeneration. However, whether visual function can be rescued after degeneration onset has not been addressed. This is a clinically important question, as newly diagnosed patients exhibit considerable loss of rods and cones in their peripheral retinas. We have generated and characterized a tamoxifen inducible Cre-loxP rescue allele, PDE6B (click button to continue reading paper)
A Homozygous PDE6B Mutation in a Family with Autosomal Recessive Retinitis Pigmentosa
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Michael Danciger, Vickie Heilbron, Yong-Qing Gao, Dan-Yun Zhao, Samuel G. Jacobson, and Debora B. Farber | Mol. Vis. | Volume 2 (10) | 1996 | molvis.org/molvis/v2/a10/
Based on average estimates of the prevalence of non-syndromic retinitis pigmentosa (RP) at 1/4,000, there are approximately 1.5 million people in the world with this inherited, progressive, degenerative disease of the retinal photoreceptor cells which often leads to blindness. About 50% of these cases are inherited in an autosomal recessive manner (AR). With the approach of screening the exons of candidate genes in large numbers of unrelated ARRP probands, mutations associated with disease have been found in several candidate genes expressed in rod photoreceptors at very low frequency: RHO, encoding rhodopsin, 1/126 patients screened; PDE6B (click to continue reading)
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