2016
DOI: 10.1136/bcr-2016-214558
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Unilateral giant peripapillary drusen and retinal drusenoid deposits in a case of X-linked retinoschisis

Abstract: A 25-year-old man with X-linked retinoschisis presented with multiple giant optic nerve head drusen and multiple retinal drusenoid deposits in one eye. There was an area of coarse pigmentation in the lower half of the retina, with convex upper borders extending on either side of the optic disc, suggestive of a spontaneously resolved retinal detachment. The possible aetiopathogenesis of such occurrence is discussed.

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Cited by 4 publications
(2 citation statements)
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“…Abnormalities of axonal metabolism, or abnormalities of axonal transport, have been suggested as precursors of ONHD, but without hypotheses to explain why axoplasmic flow is impaired. 2,19,23,24,46,148,149 It is worth noting that metabolic optic neuropathies such as mitochondrial diseases, toxic or nutritional optic neuropathies, all affect the optic nerve in a different way to ONHD with bilateral loss of acuity, central scotoma, and loss of colour vision. That is, the temporal disc and papillomacular bundle are first affected in metabolic disorders and spared in ONHD, glaucoma, and papilloedema.…”
Section: Abnormal Axonal Metabolismmentioning
confidence: 99%
“…Abnormalities of axonal metabolism, or abnormalities of axonal transport, have been suggested as precursors of ONHD, but without hypotheses to explain why axoplasmic flow is impaired. 2,19,23,24,46,148,149 It is worth noting that metabolic optic neuropathies such as mitochondrial diseases, toxic or nutritional optic neuropathies, all affect the optic nerve in a different way to ONHD with bilateral loss of acuity, central scotoma, and loss of colour vision. That is, the temporal disc and papillomacular bundle are first affected in metabolic disorders and spared in ONHD, glaucoma, and papilloedema.…”
Section: Abnormal Axonal Metabolismmentioning
confidence: 99%
“… Bilateral hyporeflective spaces in macular optical coherence tomography in a young male may also be noted in juvenile retinoschisis or X-linked retinoschisis (XLRS),[ 2 ] and peripheral retinoschisis may be absent in 50% of such cases. The fovea in magnified pictures of Fig.…”
mentioning
confidence: 99%