Macular Dystrophies

Sohn, Elliott H.; Mullins, Robert F.; Stone, Edwin M.

doi:10.1016/b978-1-4557-0737-9.00042-4

Cited by 17 publications

(33 citation statements)

References 268 publications

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“…These included attempts to extend discoveries of genes associated with rare, early onset Mendelian forms of macular degeneration such as Stargardt disease (Allikmets et al, 1997; Guymer et al, 2001), Sorsby fundus dystrophy (Weber et al, 1994; Tymms, 1999), auto-somal dominant radial drusen (Heon et al, 1996) and Best disease (Seddon et al, 2001a; Lotery et al, 2000), reviewed in (Sohn et al, 2013). Whether variants in Mendelian maculopathy genes cause a detectable fraction of AMD has been somewhat controversial in the field.…”

Section: Genetics Of Amdmentioning

confidence: 99%

Complement activation and choriocapillaris loss in early AMD: Implications for pathophysiology and therapy

Whitmore

Sohn

Chirco

et al. 2015

Progress in Retinal and Eye Research

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Age-related macular degeneration (AMD) is a common and devastating disease that can result in severe visual dysfunction. Over the last decade, great progress has been made in identifying genetic variants that contribute to AMD, many of which lie in genes involved in the complement cascade. In this review we discuss the significance of complement activation in AMD, particularly with respect to the formation of the membrane attack complex in the aging choriocapillaris. We review the clinical, histological and biochemical data that indicate that vascular loss in the choroid occurs very early in the pathogenesis of AMD, and discuss the potential impact of vascular dropout on the retinal pigment epithelium, Bruch's membrane and the photoreceptor cells. Finally, we present a hypothesis for the pathogenesis of early AMD and consider the implications of this model on the development of new therapies.

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Section: Genetics Of Amdmentioning

confidence: 99%

Complement activation and choriocapillaris loss in early AMD: Implications for pathophysiology and therapy

Whitmore

Sohn

Chirco

et al. 2015

Progress in Retinal and Eye Research

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192

160

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“…Affected individuals often manifest drusen, macular atrophy and/or CNV at a younger age than patients with AMD. 2 …”

Section: Discussionmentioning

confidence: 99%

“…They are a hallmark of early age-related macular degeneration (AMD), 1 the most common blinding disease of elderly individuals in the western world. Despite their prevalence in AMD and some early-onset macular dystrophies such as autosomal dominant radial drusen (ADRD) and Sorsby fundus dystrophy, 2 relatively little is known about their origin. Pathologic investigation of human donor eyes with AMD have suggested that drusen represent foci of local inflammation 3 akin to those seen in atherosclerosis, elastosis, and amyloidosis.…”

Section: Introductionmentioning

confidence: 99%

“…11 Central vision loss often occurs in relatively young patients due to macular drusen, atrophy, and choroidal neovascularization that simulate an early form of AMD. 2,12,13 Due to the rarity of the condition, there is limited histopathologic data on ADRD-affected eyes. Marmorstein et al evaluated a human donor eye with ADRD and found that while most drusen in ADRD were not robustly labeled with an anti-fibulin-3 antibody, the RPE-drusen interface was labeled in both ADRD and AMD.…”

Section: Introductionmentioning

confidence: 99%

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Comparison of Drusen and Modifying Genes in Autosomal Dominant Radial Drusen and Age-Related Macular Degeneration

Sohn

Wang

Thompson

et al. 2015

Retina

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Background and Purpose Autosomal dominant radial drusen (ADRD), aka Malattia Leventinese and Doyne Honeycomb Retinal Dystrophy, causes early-onset vision loss due to mutation in EFEMP1. We compared drusen in an exceedingly rare ADRD human donor eye to eyes affected with age-related macular degeneration (AMD). We also elucidated whether variations in high-risk AMD genotypes modify phenotypic severity of ADRD. Methods Morphological and histochemical analyses of drusen in one ADRD donor and 7 AMD donors. Evaluation of complement factor H (CFH) and ARMS2/HTRA1 alleles in a cohort of 25 subjects with ADRD. Results ADRD drusen had unique onion skin-like lamination but otherwise shared many compositional features with hard, nodular drusen and/or diffuse soft drusen with basal deposits. ADRD drusen also possessed collagen type IV, an extracellular matrix protein that is absent in age-related drusen. Antibodies directed against the membrane attack complex showed robust labeling of ADRD drusen. Vitronectin and amyloid P were present in drusen of both types. High-risk alleles in the CFH and ARMS2/HTRA1 genes were not associated with increasing ADRD severity. Conclusions Drusen from ADRD and AMD exhibit overlap of some major constituents, but ADRD drusen exhibit distinct alterations in the extracellular matrix that are absent in AMD.

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“…The majority of these patients usually retain driving vision in at least one eye, until their seventh decade of life [1]. In rare cases, these patients can develop choroidal neovascularization (CNV) and/or geographic atrophy (GA) and for this reason quite often these cases are misdiagnosed as age-related macular degeneration (AMD) [2]. …”

Section: Introductionmentioning

confidence: 99%

Spontaneous Regression of Choroidal Neovascularization in a Patient with Pattern Dystrophy

Anastasakis

Goleni

Livir-Rallatos

et al. 2016

Case Reports in Ophthalmological Medicine

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Purpose. To present a case of a patient with pattern dystrophy (PD) associated choroidal neovascularization (CNV) that resolved spontaneously without treatment. Methods. A 69-year-old male patient was referred to our unit, for evaluation of a recent visual loss (metamorphopsias) in his left eye. Fundus examination, fundus autofluorescence imaging, and fluorescein angiography showed a choroidal neovascular membrane in his left eye. Since visual acuity was satisfactory the patient elected observation. Clinical examination and OCT testing were repeated at 6 and 12 months after presentation. Results. Visual acuity remained stable at the level of 0.9 (baseline BCVA) during the follow-up period (12 months). Repeat OCT testing showed complete spontaneous regression of the choroidal neovascular membrane without evidence of intra- or subretinal fluid in both follow-up visits. Conclusions. Spontaneous regression of choroidal neovascularization can occur in patients with retinal dystrophies and associated choroidal neovascular membranes. The decision to treat or observe these patients relies strongly on the presenting visual acuity, since, in isolated instances, spontaneous resolution of choroidal neovascularization may occur.

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Macular Dystrophies

Cited by 17 publications

References 268 publications

Complement activation and choriocapillaris loss in early AMD: Implications for pathophysiology and therapy

Complement activation and choriocapillaris loss in early AMD: Implications for pathophysiology and therapy

Comparison of Drusen and Modifying Genes in Autosomal Dominant Radial Drusen and Age-Related Macular Degeneration

Spontaneous Regression of Choroidal Neovascularization in a Patient with Pattern Dystrophy

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