BRIEF DESCRIPTION
PDE6A-associated RP is a rare inherited retinal degeneration that causes vision loss, including night blindness and visual field defects. It's caused by mutations in the PDE6A gene, which encodes the alpha subunit of the cyclic guanosine monophosphate phosphodiesterase. RP is one of the most common forms of inherited retinal degeneration, affecting about 1 in 4,000 people.
At this time, there's no cure for RP, but there are treatments that can help with symptoms. These include low vision aids,
rehabilitation programs , vitamins and supplements. Clinical trials are underway for gene therapy. The trial involves injecting a vector under the retina.
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
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