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Genetic variants within chromosome 4q28.3 are not reproducibly associated with Age-related Macular Degeneration (AMD)
Journal article   Open access   Peer reviewed

Genetic variants within chromosome 4q28.3 are not reproducibly associated with Age-related Macular Degeneration (AMD)

Jane Gibson, Andrew Collins, Sarah Ennis, Helen Griffiths, Andrew J Lotery, John R.W Yates, James C Folk and Jade S East
Acta Ophthalmologica, Vol.89(7), pp.e603-e604
2011
DOI: 10.1111/j.1755-3768.2010.01986.x
PMID: 20738259
url
https://doi.org/10.1111/j.1755-3768.2010.01986.xView
Published (Version of record) Open Access

Abstract

nique that allows observing retinal pathology directly at a cellular level and provides a measure of photoreceptor loss in retinal diseases. In our patient with type 2 IMT, AO showed an overall rarefaction and disruption of the continuity of the photoreceptor mosaic within 5 to the fixation point. Similar findings have been recently reported (Povazay et al. 2009) using AO OCT. In our case, AO displayed also disappearance of macular cones in correspondence to an area showing on SD OCT presence of intraretinal cysts and disruption of IS ⁄OS junction. However, we cannot exclude that the apparent disappearance of macular cones could be attributed to alterations in the mosaic, which change the ability of the cones to wave-guide light. In conclusion, AO ophthalmoscopy and SD-OCT in tandem create a more powerful imaging approach than either alone which may help establishing an early diagnosis of type 2 IMT and may improve therapeutic approach to the disease.

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