Clinical findings of end-stage retinitis pigmentosa with a homozygous PDE6A variant (p.R653X)

PURPOSE: To report clinical and genetic features of a Japanese patient with end-stage retinitis pigmentosa (RP) caused by a homozygous PDE6A variant. METHODS: We performed comprehensive ophthalmic examinations. Whole exome sequencing analysis was used to investigate the RP patient with parental cons...

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Vydáno v:Am J Ophthalmol Case Rep
Hlavní autoři: Mizobuchi, Kei, Katagiri, Satoshi, Hayashi, Takaaki, Yoshitake, Kazutoshi, Fujinami, Kaoru, Kuniyoshi, Kazuki, Mishima, Reimi, Tsunoda, Kazushige, Iwata, Takeshi, Nakano, Tadashi
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier 2018
Témata:
Brief report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6307093/
https://ncbi.nlm.nih.gov/pubmed/30619975
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajoc.2018.12.019
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