Macular Degeneration in a Patient with Aceruloplasminemia, a Disease Associated with Retinal Iron Overload

Dunaief, Joshua L.; Richa, Chimene; Franks, Edward P.; Schultze, R.; Alemán, Tomás S.; Schenck, John F.; Zimmerman, Earl A.; Brooks, David G.

doi:10.1016/j.ophtha.2004.12.029

Cited by 112 publications

(91 citation statements)

References 13 publications

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“…The literature review identified 32 published cases [6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32]. Direct contact with the authors ascertained a further unpublished case.…”

Section: Resultsmentioning

confidence: 99%

The Neurological Presentation of Ceruloplasmin Gene Mutations

et al. 2008

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Aceruloplasminemia is an autosomal recessive disorder of iron metabolism resulting from mutations of the ceruloplasmin gene. To better define the neurological phenotype of aceruloplasminemia we reviewed reports of published cases and sought details of unpublished ones. We identified 32 published reports and 1 unpublished case. The age at diagnosis ranged from 16 to 71 years with a mean of 51. For the 28 homozygous cases the most common presentation was with cognitive impairment (12/28, 42%) accompanied by craniofacial dyskinesia (8/28, 28%), cerebellar ataxia (13/28, 46%) and retinal degeneration (21/28, 75%). Four heterozygotes presented with cerebellar signs or tremor, whilst 1 had chorea-athetosis. There were no genotype-phenotype associations, but homozygotes tended to have severer disease.

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Section: Resultsmentioning

confidence: 99%

The Neurological Presentation of Ceruloplasmin Gene Mutations

et al. 2008

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“…Other diseases with iron overload can mimic the symptoms of AMD and were studied in animal models (Hahn et al, 2004;Hadziahmetovic et al, 2008Hadziahmetovic et al, , 2011 and human donors (Wysokinski et al;Dunaief et al, 2005;Wong et al, 2007;Wolkow et al, 2011;Synowiec et al, 2012) to further understand pathological changes with AMD. For example, human aceruloplasminemia leads to retinal iron overload and produces early onset macular drusen-like opacities, e.g.…”

Section: The Role Of Iron and Heavy Metals In Amdmentioning

confidence: 99%

Iron accumulation in Bruch's membrane and melanosomes of donor eyes with age-related macular degeneration

Biesemeier

Yoeruek²,

Eibl

et al. 2015

Experimental Eye Research

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“…The increase of CEP protein adducts in AMD retinas indicates that increased oxidation of DHA and adrenic acid that likely occurs in AMD eyes may lead to a reduction in DHA and adrenic acid, which is consistent with our study results. Dunaief et al ( 55,56 ) reported that retinas and RPE/choroid from AMD donor eyes exhibit marked accumulation of iron stores compared with age-matched normal donor tissue, which may lead to increased Haber-Weiss reactions signifi cant. The ratios of n-6/n-3 VLC-PUFAs and the sum of all VLC-PUFAs in old age group retinas (0.83 ± 0.09 and 3203 ± 535) were signifi cantly decreased compared with the ratio and sum in age-matched AMD retinas (1.24 ± 0.10 and 1355 ± 268) ( P < 0.05).…”

Section: Separation Of Vlc-pufas From Retina and Rpe/choroidmentioning

confidence: 99%