作者:Katsman Diana , Sanfilippo Christian , Sarraf David
来源:[J].Retinal cases & brief reports, 2017, Vol.11 Suppl 1, pp.S77-S80PubMed
摘要:To report a case of bilateral panretinal degeneration in a patient with long-term hydroxychloroquine exposure and positive for a heterozygous mutation in the USH2A gene.;;Retrospective case report. Multimodal imaging including spectral-domain optical coherence tomography, fundus ...
作者:Sanfilippo Christian , Morcos Marcelle M ...
来源:[J].Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie, 2018, Vol.256 (3), pp.583-588PubMed
摘要:The mitochondrial DNA point mutation A3243G leads to a spectrum of syndromes ranging from MIDD to MELAS. Ocular manifestations include pattern macular dystrophy and concentric perifoveal atrophy. Given the high metabolic demand of corneal endothelial cells, we performed spec...


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