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
BRIEF SUMMARY
PDE6B retinitis pigmentosa is a rare, inherited eye disease that causes vision loss. It's caused by mutations in the PDE6B gene, which encodes the beta subunit of rod cGMP phosphodiesterase, which regulates signal transduction. It is a progressive and irreversible disease. PDE6B retinitis pigmentosa is inherited in an autosomal recessive pattern. It is estimated that up to 5% of ar-RP cases are caused by mutations in PDE6B gene which encodes the beta subunit.
Symptoms include night blindness that appears early, visual field defects that worsen over time, and central vision loss. Vision loss becomes more noticeable as the disease worsens. Most patients never completely lose their vision
At this time, there is no effective treatment for PDE6B retinitis pigmentosa. Adeno-associated virus (AAV)-mediated gene therapy is a promising strategy.​
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This is for informational purposes only. For medical advice or diagnosis, consult a professional.
IN THE NEWS
ACADEMIC PAPERS | JOURNAL ARTICLES | PERSONAL STORIES
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)
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