Distrofia macular anular benigna concéntrica

Gómez-Faíña, P; I, Alarcón-Valero; Calvo, J.A. Buil; Calsina-Prat, M.; Martín-Moral, Daniel; Lillo-Sopena, Juan; Céspedes, Miguel Castilla

doi:10.4321/s0365-66912007000600011

Cited by 8 publications

(28 citation statements)

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“…enign concentric annular macular dystrophy (BCAMD) (OMIM 153870; Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/omim) is an uncommon disorder, initially characterized by paracentral ring scotoma with a central hyperpigmentation of the retinal pigment epithelium (RPE) and relatively good visual acuity (1)(2)(3) . The first report of BCAMD was published in 1974, in a family with an autosomal dominant trait (4) .…”

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confidence: 99%

“…A ringlike hyperfluorescence is typically found in fluorescein angiographic images. It is a result of a window defect in the atrophic macular pigment which provides the characteristic "bull's eye" maculopathy (1,4) . Electroretinogram (ERG) is usually normal or slightly abnormal (1,2) .…”

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confidence: 99%

“…It is a result of a window defect in the atrophic macular pigment which provides the characteristic "bull's eye" maculopathy (1,4) . Electroretinogram (ERG) is usually normal or slightly abnormal (1,2) . Studying the patients' color perception, some of them show predominant defects in the blue yellow axis, though this finding is not constant (1,5,6) .…”

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confidence: 99%

“…Electroretinogram (ERG) is usually normal or slightly abnormal (1,2) . Studying the patients' color perception, some of them show predominant defects in the blue yellow axis, though this finding is not constant (1,5,6) . The differential diagnosis of a "bull's eye" maculopathy includes chloroquine and hydroxychloroquine toxicity, Stargardt's disease, central areolar choroidal atrophy, chronic macular hole and cone dystrophy.…”

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confidence: 99%

“…The differential diagnosis of a "bull's eye" maculopathy includes chloroquine and hydroxychloroquine toxicity, Stargardt's disease, central areolar choroidal atrophy, chronic macular hole and cone dystrophy. Patients with BCAMD do not have a prior history of regular chloroquine intake or symptoms related to photoreceptors dystrophy, such as photophobia and severely defective color vision (1) . The present study reports a case of a patient with typical clinical findings of BCAMD.…”

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confidence: 99%

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Benign concentric annular macular dystrophy

Mendonça¹,

Lavigne²,

Chaves³

et al. 2015

Revista Brasileira De Oftalmologia

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confidence: 99%

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confidence: 99%

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Benign concentric annular macular dystrophy

Mendonça¹,

Lavigne²,

Chaves³

et al. 2015

Revista Brasileira De Oftalmologia

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Mutations in IMPG1 Cause Vitelliform Macular Dystrophies

Manes

Meunier

Ávila-Fernández

et al. 2013

The American Journal of Human Genetics

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Vitelliform macular dystrophies (VMD) are inherited retinal dystrophies characterized by yellow, round deposits visible upon fundus examination and encountered in individuals with juvenile Best macular dystrophy (BMD) or adult-onset vitelliform macular dystrophy (AVMD). Although many BMD and some AVMD cases harbor mutations in BEST1 or PRPH2, the underlying genetic cause remains unknown for many affected individuals. In a large family with autosomal-dominant VMD, gene mapping and whole-exome sequencing led to the identification of a c.713T>G (p.Leu238Arg) IMPG1 mutation, which was subsequently found in two other families with autosomal-dominant VMD and the same phenotype. IMPG1 encodes the SPACR protein, a component of the rod and cone photoreceptor extracellular matrix domains. Structural modeling indicates that the p.Leu238Arg substitution destabilizes the conserved SEA1 domain of SPACR. Screening of 144 probands who had various forms of macular dystrophy revealed three other IMPG1 mutations. Two individuals from one family affected by autosomal-recessive VMD were homozygous for the splice-site mutation c.807+1G>T, and two from another family were compound heterozygous for the mutations c.461T>C (p.Leu154Pro) and c.1519C>T (p.Arg507(∗)). Most cases had a normal or moderately decreased electrooculogram Arden ratio. We conclude that IMPG1 mutations cause both autosomal-dominant and -recessive forms of VMD, thus indicating that impairment of the interphotoreceptor matrix might be a general cause of VMD.

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