Electrophysiology of type II mesangiocapillary glomerulonephritis with associated fundus abnormalities.

O'Brien, C; Duvall-Young, Josephine; Brown, M. M.; Short, Colin D.

doi:10.1136/bjo.77.12.778

Cited by 24 publications

(18 citation statements)

References 7 publications

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“…Their distribution is variable and as in AMD in the early stages, is not associated with ocular morbidity (Colville et al, 2003;Duvall-Young et al, 1989). With time retinal dysfunction may develop, detectable even when the patient is asymptomatic (Colville et al, 2003;D'Souza Y et al, 2009;O'Brien et al, 1993). Further progression can be associated with choroidal neovascularisation and serous macular detachment, although how frequently this occurs and whether it is complicated by the necessary pharmacotherapy is not known (Colville et al, 2003).…”

Section: Type II Membranoproliferative Glomerulonephritis Dense Depomentioning

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: Type II Membranoproliferative Glomerulonephritis Dense Depomentioning

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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“…These are indistinguishable in composition and appearance from those in AMD (23,(31)(32)(33). Furthermore, one patient diagnosed with MPGNII harbors a mutation in the factor H gene (HF1), a major inhibitor of the alternative complement pathway (P. Zipfel, personal communication).…”

mentioning

confidence: 99%

A common haplotype in the complement regulatory gene factor H ( HF1/CFH ) predisposes individuals to age-related macular degeneration

Hageman

Anderson

Johnson

et al. 2005

Proc. Natl. Acad. Sci. U.S.A.

1,804

1,477

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Age-related macular degeneration (AMD) is the most frequent cause of irreversible blindness in the elderly in developed countries. Our previous studies implicated activation of complement in the formation of drusen, the hallmark lesion of AMD. Here, we show that factor H (HF1), the major inhibitor of the alternative complement pathway, accumulates within drusen and is synthesized by the retinal pigmented epithelium. Because previous linkage analyses identified chromosome 1q25-32, which harbors the factor H gene (HF1͞CFH), as an AMD susceptibility locus, we analyzed HF1 for genetic variation in two independent cohorts comprised of Ϸ900 AMD cases and 400 matched controls. We found association of eight common HF1 SNPs with AMD; two common missense variants exhibit highly significant associations (I62V, 2 ‫؍‬ 26.1 and P ‫؍‬ 3.2 ؋ 10 ؊7 and Y402H, 2 ‫؍‬ 54.4 and P ‫؍‬ 1.6 ؋ 10 ؊13 ). Haplotype analysis reveals that multiple HF1 variants confer elevated or reduced risk of AMD. One common at-risk haplotype is present at a frequency of 50% in AMD cases and 29% in controls [odds ratio (OR) ‫؍‬ 2.46, 95% confidence interval (1.95-3.11)]. Homozygotes for this haplotype account for 24% of cases and 8% of controls [OR ‫؍‬ 3.51, 95% confidence interval (2.13-5.78)]. Several protective haplotypes are also identified (OR ‫؍‬ 0.44 -0.55), further implicating HF1 function in the pathogenetic mechanisms underlying AMD. We propose that genetic variation in a regulator of the alternative complement pathway, when combined with a triggering event, such as infection, underlie a major proportion of AMD in the human population.A ge-related macular degeneration (AMD) is the leading cause of irreversible vision loss (1, 2), affecting Ϸ50 million individuals worldwide. AMD is characterized by a progressive loss of central vision attributable to degenerative and neovascular changes that occur at the interface between the neural retina and the underlying choroid. At this location are the retinal photoreceptors, the retinal pigmented epithelium (RPE), a basement membrane complex known as Bruch's membrane (BM) and a network of choroidal capillaries.The prevailing view is that AMD is a complex disorder stemming from the interaction of multiple genetic and environmental risk factors (3,4). Familial aggregation studies indicate that a genetic contribution can be identified in up to 25% of the cases (5). Thus, AMD appears to be a product of the interaction between multiple susceptibility loci rather than a collection of single-gene disorders. The number of loci involved, the attributable risk conferred, and the interactions between various loci remain obscure.

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“…42.67). 291,292 Histopathologic studies of the Bruch's membrane deposits found in MPGN II demonstrate that they are morphologically 293 and compositionally 294 similar to the drusen found in AMD. Mild functional abnormalities roughly correlate with more advanced age but patients with the red fenestrations have 20/20 visual acuity.…”

Section: Fenestrated Sheen Macular Dystrophy (Fsmd)mentioning

confidence: 95%

Macular Dystrophies

Sohn¹,

Mullins²,

Stone³

2013

Retina

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Electrophysiology of type II mesangiocapillary glomerulonephritis with associated fundus abnormalities.

Cited by 24 publications

References 7 publications

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

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

A common haplotype in the complement regulatory gene factor H ( HF1/CFH ) predisposes individuals to age-related macular degeneration

Macular Dystrophies

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