Specific Changes in the Fundus Typical for the Sjögren‐larsson Syndrome

Jagell, Sten; Polland, Werner; Sandgren, Ola

doi:10.1111/j.1755-3768.1980.tb05730.x

Cited by 77 publications

(19 citation statements)

References 7 publications

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“…Consequently aldehyde modified lipids or fatty alcohols accumulate, which are likely to disrupt the function of membranes in the eye, brain and skin. The deposits are fine, often hard to photograph, hyperautofluorescent and not associated with electrophysiological abnormality (Jagell et al, 1980;Mirshahi and Piri, 2009). …”

Section: Sjogren-larsson Syndrome (Sls)mentioning

confidence: 99%

Differentiating drusen: Drusen and drusen-like appearances associated with ageing, age-related macular degeneration, inherited eye disease and other pathological processes

Khan

Mahroo

Khan

et al. 2016

Progress in Retinal and Eye Research

181

159

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Drusen are discussed frequently in the context of their association with age-related macular degeneration (AMD). Some types may, however, be regarded as a normal consequence of ageing; others may be observed in young age groups. They also occur in a number of inherited disorders and some systemic conditions. Whilst drusen are classically located external (sclerad) to the retinal pigment epithelium, accumulations of material internal (vitread to) this layer can display a drusen-like appearance, having been variously termed pseudodrusen or subretinal drusenoid deposits. This review first briefly presents an overview of drusen biogenesis and subclinical deposit. The (frequently overlapping) subtypes of clinically detectable deposit, seen usually in the context of ageing or AMD, are then described in more detail, together with appearance on imaging modalities: these include hard and soft drusen, cuticular drusen, reticular pseudodrusen and "ghost drusen". Eye disorders other than AMD which may exhibit drusen or drusen-like features are subsequently discussed: these include monogenic conditions as well as conditions with undefined inheritance, the latter including some types of early onset drusen such as large colloid drusen. A number of systemic conditions in which drusen-like deposits may be seen are also considered. Throughout this review, high resolution images are presented for most of the conditions discussed, particularly the rarer ones, providing a useful reference library for images of the range of conditions associated with drusen-like appearances. In the final section, some common themes are highlighted, as well as a brief discussion of some future avenues for research.

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Section: Sjogren-larsson Syndrome (Sls)mentioning

confidence: 99%

Differentiating drusen: Drusen and drusen-like appearances associated with ageing, age-related macular degeneration, inherited eye disease and other pathological processes

Khan

Mahroo

Khan

et al. 2016

Progress in Retinal and Eye Research

181

159

View full text Add to dashboard Cite

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“…As mentioned previously, SLS is a neurocutaneous disorder caused by deficiency of FALDH [1][2][3][4][5][6][7]. Genetic linkage of the syndrome has been mapped to short arm of chromosome 17 (17p11) [9].…”

Section: Discussionmentioning

confidence: 99%

“…Ocular manifestations include glistening dots in the macular area of the retina, the nature of which is unknown [3,4,6,7]. The presence of these foveal and parafoveal crystals is a pathognomonic sign of the syndrome [3,4].…”

Section: Introductionmentioning

confidence: 99%

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Fundus autofluorescence changes in two cases of Sjögren-Larsson syndrome

Mirshahi

Piri

2008

Int Ophthalmol

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Sjögren-Larsson syndrome (SLS) is a rare autosomal recessive neurocutaneous disorder characterized by the triad of intellectual disability, spastic diplegia or tetraplegia, and congenital ichthyosis with associated ocular features, which include macular glistening dots. Herein, two cases of SLS are presented and their fundus autofluorescence changes, which have not been reported so far, are described.

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“…Ophthalmologic and fundus photography show that the crystals are located in the innermost layers of the retina , Willemsen et al 2005. Additional ocular findings include corneal dystrophy, amblyopia, macular degeneration, keratitis, blepharitis and cataracts ( Jagell et al 1980, Willemsen et al 2000a). Photophobia causes squinting in bright sunlight.…”

Section: Eye Abnormalitiesmentioning

confidence: 96%