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Prediction of causative genes in inherited retinal disorder from fundus photography and autofluorescence imaging using deep learning techniques.
Fujinami-Yokokawa Y, Ninomiya H, Liu X, Yang L, Pontikos N, Yoshitake K, Iwata T, Sato Y, Hashimoto T, Tsunoda K, Miyata H, Fujinami K; Japan Eye Genetics Study (JEGC) Group. Fujinami-Yokokawa Y, et al. Br J Ophthalmol. 2021 Sep;105(9):1272-1279. doi: 10.1136/bjophthalmol-2020-318544. Epub 2021 Apr 20. Br J Ophthalmol. 2021. PMID: 33879469 Free PMC article.
Three categories of genetic diagnosis were selected, based on the high prevalence of their causative genes: Stargardt disease (ABCA4), retinitis pigmentosa (EYS) and occult macular dystrophy (RP1L1). Fundus photographs and FAF images were cropped in a standar …
Three categories of genetic diagnosis were selected, based on the high prevalence of their causative genes: Stargardt disease (ABCA4), retin …
Occult macular dystrophy with bilateral chronic subfoveal serous retinal detachment associated with a novel RP1L1 mutation (p.S1199P).
Takahashi H, Hayashi T, Tsuneoka H, Nakano T, Yamada H, Katagiri S, Fujino Y, Noda Y, Yoshimoto M, Kawashima H. Takahashi H, et al. Doc Ophthalmol. 2014 Aug;129(1):49-56. doi: 10.1007/s10633-014-9443-0. Epub 2014 May 17. Doc Ophthalmol. 2014. PMID: 24838559
PURPOSE: The purpose of this study was to present an atypical case of occult macular dystrophy (OMD) with bilateral chronic subfoveal serous retinal detachment (SRD). ...
PURPOSE: The purpose of this study was to present an atypical case of occult macular dystrophy (OMD) with bilateral chr …