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Choroidal neovascularization post macular surgery:a case series

International Journal of Ophthalmology(English edition) 2018年第8期11卷 1425-1429页

作者： Georgios Tsokolas Benjamin Clarke hussein almuhtaseb Bhaskar Gupta Eye Unit University Hospital Southampton

Dear Editor,My name is Georgios Tsokolas and I am currently working as Medical Retina Research Fellow at the Eye Unit of Southampton General Hospital in United Kingdom.

关键词： Choroidal neovascularization post macular surgery a case series

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Long term follow-up of a family with GUCY2D dominant cone dystrophy

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International Journal of Ophthalmology(English edition) 2018年第12期11卷 1945-1950页

作者： Georgios Tsokolas hussein almuhtaseb Helen Griffiths Fatima Shawkat Reuben J.Pengelly Sarah Ennis Andrew Lotery Clinical and Experimental Sciences University of Southampton Eye Unit University Hospital Southampton Human Genetics & Genomic Medicine Faculty of Medicine University of Southampton

AIM: To describe long term follow-up in a family with GUCY2D dominant cone dystrophy. METHODS: Optical coherence tomography scans and fundus autofluorescence images were obtained. Flash and pattern electroretinograms(ERGs) and occipital pattern reversal visual evoked potentials were recorded. RESULTS: Two members of the same family(father and son) were identified to have the heterozygous R838 C mutation in the GUCY2D gene. The father presented at the age of 45 with bilateral bull’s eye maculopathy and temporal disc pallor. Over 13 y of serial follow up visits, the bull’s eye maculopathy progressed gradually into macular atrophy. Electrophysiological tests were significantly degraded suggesting poor macular function. Spectraldomain optical coherence tomography(SD-OCT) scans showed progressive loss and disruption of the ellipsoid layer at the foveal level. His son presented at the age of 16 with bilateral granular retinal pigment epithelial changes in both maculae. Electrophysiological testing was initially borderline normal but has gradually deteriorated to show reduced cone ERGs and macula function. SD-OCT demonstrated gradual macular thinning and atrophy bilaterally. Unlike his father, there was no disruption of the ellipsoid ***: Both family members exhibited gradual changes in their fundi, electrophysiological testing and multimodal imaging. Changes were milder than those observed in other mutations of the same gene.

关键词： autofluorescence electroretinogram cone dystrophy cone-rod dystrophy GUCY2D spectral-domain optical coherence tomography visual evoked potential

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