ArticleOphthalmic genetics2014
Next-generation sequencing revealed a novel mutation in the gene encoding the beta subunit of rod phosphodiesterase.
Article in Ophthalmic genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 17 citations in OpenAlex.
- Identification of a novel large multigene deletion and a frameshift indel inCold Spring Harbor molecular case studies · 2022Article
- Novel variants in PDE6A and PDE6B genes and its phenotypes in patients with retinitis pigmentosa in Chinese families.BMC ophthalmology · 2022Article
- Correlation between B-scan optical coherence tomography, en face thickness map ring and hyperautofluorescent ring in retinitis pigmentosa patients.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2019Article
- Reprogramming the metabolome rescues retinal degeneration.Cellular and molecular life sciences : CMLS · 2018Review
- Lutein and Zeaxanthin Isomers Reduce Photoreceptor Degeneration in theBioMed research international · 2018Article
- Genetic rescue models refute nonautonomous rod cell death in retinitis pigmentosa.Proceedings of the National Academy of Sciences of the United States of America · 2017Article
- MULTIMODAL IMAGING OF DISEASE-ASSOCIATED PIGMENTARY CHANGES IN RETINITIS PIGMENTOSA.Retina (Philadelphia, Pa.) · 2016Article
- Reprogramming metabolism by targeting sirtuin 6 attenuates retinal degeneration.The Journal of clinical investigation · 2016Article
- Novel mutations in PDE6B causing human retinitis pigmentosa.International journal of ophthalmology · 2016Article
- The Time Course of Deafness and Retinal Degeneration in a Kunming Mouse Model for Usher Syndrome.PloS one · 2016Article
- Halting progressive neurodegeneration in advanced retinitis pigmentosa.The Journal of clinical investigation · 2015Article
- Reduced rod electroretinograms in carrier parents of two Japanese siblings with autosomal recessive retinitis pigmentosa associated with PDE6B gene mutations.Documenta ophthalmologica. Advances in ophthalmology · 2015Article
- Retinal dystrophies, genomic applications in diagnosis and prospects for therapy.Translational pediatrics · 2015Review
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 2 countries.
Funding
Abstract
purposeTo report the phenotypes caused by a novel mutation in the PDE6B gene in a family with two affected siblings and one affected cousin with a 2-year follow-up.
designThree patients from a family with a history of retinitis pigmentosa underwent clinical evaluations. The affected patients' DNA was analyzed using next-generation sequencing and segregation analyses were performed for the family.
settingEdward S. Harkness Eye Institute, New York Presbyterian Hospital.
participantsTwo siblings, one cousin, and five unaffected family members.
main outcome measuresMacular appearance assessed by funduscopy, autofluorescence imaging, spectral-domain optical coherence tomography and visual function assessed by electroretinography.
resultsThe proband, brother, and cousin had rod-cone degeneration with cystoid macular edema. Fundus autofluorescence showed hyperautofluorescent ring constriction over time. Spectral-domain optical coherence tomography revealed retinal pigment epithelium atrophy, loss of external limiting membrane, retinal layer thinning, and reduction in ellipsoid zone length over time. Next-generation whole exome sequencing revealed a homozygous c.1923_1969ins6del47 nonsense PDE6B mutation, which has not been previously described, that segregated with the disease in the family.
conclusionsThe homozygous PDE6B mutation causes retinitis pigmentosa. Acetazolamide treatment improved visual acuity but rod degeneration continued. Despite having the same mutation and living in the same environment, the proband's brother progressed at a faster rate starting at a younger age, suggesting that gene modifiers may influence the expressivity of the phenotype. Next-generation sequencing, used to discover this mutation, is a practical new technology that can detect novel disease-causing alleles, where previous arrayed primer extension (APEX) technology could not.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.